Condition: Colorectal Carcinoma
rs4849303 in
ACOXL gene and
Colorectal Carcinoma
PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
rs11692435 in
ACTR1B gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs35446936 in
ACTRT3 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs1801155 in
APC gene and
Colorectal Carcinoma
PMID 23896379 2013 The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.
PMID 9731533 1998 The I1307K allele was found in 6.1% of unselected Ashkenazi Jews and higher proportions of Ashkenazim with family or personal histories of CRC (ref.2).
PMID 9724771 1998 The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
PMID 11159880 2001 To further address the pathogenic significance of I1307K, we offered both a genetic test and a screening program to individuals considered to be at increased risk for colorectal cancer.
PMID 9288102 1997 Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs11169552 in
ATF1 gene and
Colorectal Carcinoma
PMID 20972440 2010 We identified associations at four new CRC risk loci: 1q41 (rs6691170, odds ratio (OR) = 1.06, P = 9.55 × 10⁻¹⁰ and rs6687758, OR = 1.09, P = 2.27 × 10⁻⁹, 3q26.2 (rs10936599, OR = 0.93, P = 3.39 × 10⁻⁸), 12q13.13 (rs11169552, OR = 0.92, P = 1.89 × 10⁻¹⁰ and rs7136702, OR = 1.06, P = 4.02 × 10⁻⁸) and 20q13.33 (rs4925386, OR = 0.93, P = 1.89 × 10⁻¹⁰).
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs597808 in
ATXN2 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs1800469 in
B9D2;TGFB1 gene and
Colorectal Carcinoma
PMID 27145994 2016 Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
rs2241714 in
B9D2;TMEM91 gene and
Colorectal Carcinoma
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
rs12548629 in
BAALC;BAALC-AS1 gene and
Colorectal Carcinoma
PMID 29698419 2018 Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies.
rs4808075 in
BABAM1;USHBP1 gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs4948317 in
BICC1 gene and
Colorectal Carcinoma
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
rs35107139 in
BMP4 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs62404966 in
BMP5 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs72942485 in
BOC gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs113488022 in
BRAF gene and
Colorectal Carcinoma
PMID 25373533 2015 Updated guidelines for biomarker testing in colorectal carcinoma: a national consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.
PMID 23852704 2014 Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.
PMID 23012255 2012 ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making.
PMID 24996433 2014 RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group.
PMID 23429431 2013 Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?
PMID 25006736 2014 Multitarget stool DNA testing for colorectal-cancer screening.
PMID 17060676 2006 ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer.
PMID 22138009 2011 NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology.
PMID 19042984 2008 National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers.
PMID 22855150 2012 Guidelines for biomarker testing in colorectal carcinoma (CRC): a national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM).
PMID 21917714 2011 Protein arginine methyltransferase 5 regulates ERK1/2 signal transduction amplitude and cell fate through CRAF.
PMID 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
PMID 24455489 2014 Evidence That GRIN2A Mutations in Melanoma Correlate with Decreased Survival.
PMID 12198537 2002 Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status.
rs11571818 in
BRCA2 gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
PMID 27165003 2016 The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
rs1057519365 in
BRIP1 gene and
Colorectal Carcinoma
PMID 27165003 2016 The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
rs7742915 in
BTBD9 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs11213809 in
C11orf53 gene and
Colorectal Carcinoma
PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs16823149 in
C1orf21 gene and
Colorectal Carcinoma
PMID 20610541 2010 Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility.
rs254563 in
C5orf66 gene and
Colorectal Carcinoma
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
PMID 23263487 2013 Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
rs4976270 in
C5orf66;LOC105379188 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs2427308 in
CABLES2 gene and
Colorectal Carcinoma
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 24737748 2014 Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
rs10505477 in
CASC8;PCAT1;POU5F1B gene and
Colorectal Carcinoma
PMID 28960316 2018 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
PMID 24737748 2014 Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 17618284 2007 A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
PMID 17618283 2007 Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.
PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
rs7014346 in
CASC8;POU5F1B;PCAT1 gene and
Colorectal Carcinoma
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
PMID 18372901 2008 Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
rs694339 in
CBLN2 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs3217810 in
CCND2 gene and
Colorectal Carcinoma
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs10774214 in
CCND2-AS1 gene and
Colorectal Carcinoma
PMID 23263487 2013 Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs9929218 in
CDH1 gene and
Colorectal Carcinoma
PMID 19011631 2008 We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)).
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs9924886 in
CDH3 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs1011970 in
CDKN2B-AS1 gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs16845107 in
CFAP44;CFAP44-AS1 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs145364999 in
CHD1 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs4944940 in
CHRDL2 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs11150038 in
CLEC3A gene and
Colorectal Carcinoma
PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
rs7993934 in
COL4A2 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs3802842 in
COLCA2;COLCA1 gene and
Colorectal Carcinoma
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
PMID 21761138 2012 Meta-analysis of new genome-wide association studies of colorectal cancer risk.
PMID 18372901 2008 Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
PMID 28960316 2018 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
rs281865417 in
COX2;COX1 gene and
Colorectal Carcinoma
PMID 19218458 2009 A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.
PMID 16407113 2006 Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.
rs267606884 in
COX3;ATP8;COX1;ATP6;COX2 gene and
Colorectal Carcinoma
PMID 19218458 2009 A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.
PMID 16407113 2006 Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.
rs7495132 in
CRTC3;CRTC3-AS1 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs121913400 in
CTNNB1 gene and
Colorectal Carcinoma
PMID 25006736 2014 Multitarget stool DNA testing for colorectal-cancer screening.
PMID 23012255 2012 ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making.
PMID 24996433 2014 RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group.
PMID 22855150 2012 Guidelines for biomarker testing in colorectal carcinoma (CRC): a national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM).
PMID 23852704 2014 Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.
PMID 17060676 2006 ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer.
PMID 25373533 2015 Updated guidelines for biomarker testing in colorectal carcinoma: a national consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.
PMID 23429431 2013 Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?
PMID 19042984 2008 National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers.
PMID 22138009 2011 NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology.
rs10904849 in
CUBN gene and
Colorectal Carcinoma
PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
rs4919687 in
CYP17A1 gene and
Colorectal Carcinoma
PMID 26965516 2016 We identified 4 loci associated with CRC risk; P values for the most significant variant in each locus ranged from 3.92 × 10(-8) to 1.24 × 10(-12): 6p21.1 (rs4711689), 8q23.3 (rs2450115, rs6469656), 10q24.3 (rs4919687), and 12p13.3 (rs11064437).
rs4946260 in
DCBLD1 gene and
Colorectal Carcinoma
PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
rs77969132 in
DENND5B gene and
Colorectal Carcinoma
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
rs4768903 in
DIP2B gene and
Colorectal Carcinoma
PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
rs17659990 in
DOCK3 gene and
Colorectal Carcinoma
PMID 29228715 2017 A genome-wide significant association of rs17659990 (P=5.43×10<sup>-9</sup>, <i>DOCK3</i>, chromosome 3p21.2) with colorectal cancer risk was observed.
rs10457678 in
ECT2L gene and
Colorectal Carcinoma
PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
rs2070699 in
EDN1 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs201395236 in
EFCAB2 gene and
Colorectal Carcinoma
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
rs5753618 in
EIF4ENIF1;DRG1 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs209489 in
ELOVL5 gene and
Colorectal Carcinoma
PMID 26586795 2016 Among individuals with distant-metastatic CRC, several SNPs at 6p12.1, nearest the ELOVL5 gene, were statistically significantly associated with poorer survival, with the strongest associations noted for rs209489 [hazard ratio (HR) = 1.8, P = 7.6×10(-10) and HR = 1.8, P = 3.7×10(-9) for CRC-specific and overall survival, respectively).
rs1569118537 in
EP300 gene and
Colorectal Carcinoma
PMID 26486927 2016 From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
rs7692430 in
EPHA5 gene and
Colorectal Carcinoma
PMID 30557370 2018 Genome wide association study to identify predictors for severe skin toxicity in colorectal cancer patients treated with cetuximab.
rs202110856 in
ERAP1 gene and
Colorectal Carcinoma
PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
rs2238126 in
ETV6 gene and
Colorectal Carcinoma
PMID 27145994 2016 The G allele of rs2238126 confers earlier age at onset of colorectal cancer (P=1.98 × 10(-6)) and reduces the binding affinity of transcriptional enhancer MAX.
rs174550 in
FADS1;FADS2 gene and
Colorectal Carcinoma
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
rs1535 in
FADS2 gene and
Colorectal Carcinoma
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs4246215 in
FADS2;FEN1 gene and
Colorectal Carcinoma
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs6051080 in
FAM182A gene and
Colorectal Carcinoma
PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
rs13129679 in
FAM193A;RNF4 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs1057519366 in
FANCC gene and
Colorectal Carcinoma
PMID 27165003 2016 The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
rs763151358 in
FANCE gene and
Colorectal Carcinoma
PMID 27165003 2016 The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
rs267608140 in
FBXO11;MSH6 gene and
Colorectal Carcinoma
PMID 14961575 2004 Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.
PMID 11807791 2002 Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.
PMID 15483016 2004 Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.
PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
PMID 14520694 2003 MSH6 germline mutations are rare in colorectal cancer families.
PMID 12522549 2003 Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?
PMID 11153917 2000 Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?
PMID 10537275 1999 Germ-line msh6 mutations in colorectal cancer families.
PMID 10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.
PMID 11709755 2002 Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.
PMID 10699937 2000 Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.
PMID 11470537 2001 Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype.
rs11200014 in
FGFR2 gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs17816465 in
FMN1 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs16959063 in
FMN1;LOC107984089 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs56084662 in
FRY gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs4143094 in
GATA3 gene and
Colorectal Carcinoma
PMID 24743840 2014 The risk of colorectal cancer associated with processed meat was increased among individuals with the rs4143094-TG and -TT genotypes (OR = 1.20 and OR = 1.39, respectively) and null among those with the GG genotype (OR = 1.03).
rs1057941 in
GBAP1 gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs13831 in
GNAS gene and
Colorectal Carcinoma
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
rs3753366 in
GNG12 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs7252505 in
GPATCH1 gene and
Colorectal Carcinoma
PMID 28295283 2017 The association between rs7252505 and CRC was of borderline significance (p = 0.05) in a Hispanic population GWAS with 1,611 CRC cases and 4,330 controls.
rs5934683 in
GPR143 gene and
Colorectal Carcinoma
PMID 22634755 2012 We identified three new CRC risk loci at 6p21 (rs1321311, near CDKN1A; P = 1.14 × 10(-10)), 11q13.4 (rs3824999, intronic to POLD3; P = 3.65 × 10(-10)) and Xp22.2 (rs5934683, near SHROOM2; P = 7.30 × 10(-10)) This brings the number of independent loci associated with CRC risk to 20 and provides further insight into the genetic architecture of inherited susceptibility to CRC.
rs10318 in
GREM1 gene and
Colorectal Carcinoma
PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
rs2293581 in
GREM1;LOC100131315 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs3131043 in
HCG20 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs12916300 in
HERC2 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs11727676 in
HHIP gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs115392158 in
HLA-B gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs1362126 in
HLA-F gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs12601991 in
HNF1B gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs1665650 in
HSPA12A gene and
Colorectal Carcinoma
PMID 23263487 2013 Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
rs11119608 in
KCNH1 gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs16869961 in
KCNIP4 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs28541881 in
KIAA0355 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs45597035 in
KLF5 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs73110464 in
KRT8 gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs7542665 in
L1TD1 gene and
Colorectal Carcinoma
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
rs1741640 in
LAMA5 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 20972440 2010 We identified associations at four new CRC risk loci: 1q41 (rs6691170, odds ratio (OR) = 1.06, P = 9.55 × 10⁻¹⁰ and rs6687758, OR = 1.09, P = 2.27 × 10⁻⁹, 3q26.2 (rs10936599, OR = 0.93, P = 3.39 × 10⁻⁸), 12q13.13 (rs11169552, OR = 0.92, P = 1.89 × 10⁻¹⁰ and rs7136702, OR = 1.06, P = 4.02 × 10⁻⁸) and 20q13.33 (rs4925386, OR = 0.93, P = 1.89 × 10⁻¹⁰).
rs10911251 in
LAMC1 gene and
Colorectal Carcinoma
PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs34245511 in
LIMA1 gene and
Colorectal Carcinoma
PMID 24737748 2014 Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
rs1330889 in
LINC00446;OBI1-AS1 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs983318 in
LINC00511;LINC00673 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs6720296 in
LINC01121 gene and
Colorectal Carcinoma
PMID 25866641 2015 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.
rs7606512 in
LINC01173 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs12412391 in
LINC01475 gene and
Colorectal Carcinoma
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
rs1432096 in
LINC01500 gene and
Colorectal Carcinoma
PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs6702619 in
LINC01708 gene and
Colorectal Carcinoma
PMID 22532847 2012 Pooled sample-based GWAS: a cost-effective alternative for identifying colorectal and prostate cancer risk variants in the Polish population.
rs17011141 in
LINC02257 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs3987 in
LINC02264;LOC102723914 gene and
Colorectal Carcinoma
PMID 24978480 2014 A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis.
rs2293582 in
LOC100131315;GREM1 gene and
Colorectal Carcinoma
PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
PMID 24737748 2014 Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
rs73975586 in
LOC101927727;NXN gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs11085466 in
LOC101929007 gene and
Colorectal Carcinoma
PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
rs1459528 in
LOC102723914 gene and
Colorectal Carcinoma
PMID 24978480 2014 A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis.
rs16973225 in
LOC102724001 gene and
Colorectal Carcinoma
PMID 25781442 2015 Regular use was associated with a lower risk of colorectal cancer among individuals with rs16973225-AA genotype (prevalence, 28% vs 38%; OR, 0.66 [95% CI, 0.62-0.71]; P = 1.9 × 10(-30)) but was not associated with risk of colorectal cancer among those with less common (9%) AC or CC genotypes (prevalence, 36% vs 39%; OR, 0.97 [95% CI, 0.78-1.20]; P = .76).
rs10749971 in
LOC105369491 gene and
Colorectal Carcinoma
PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
rs10849433 in
LOC105369624 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs10849432 in
LOC105369625 gene and
Colorectal Carcinoma
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
rs7300312 in
LOC105370003 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs1570405 in
LOC105370507 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs143046984 in
LOC105370557;PCNX1 gene and
Colorectal Carcinoma
PMID 27207650 2016 We discovered 17 variants across 4 independent regions that merit further investigation due to suggestive CRC associations (P < 1×10(-6)) at 1p34.3 (rs7528276; Odds Ratio (OR) = 1.86 [95% confidence interval (CI): 1.47-2.36); P = 2.5×10(-7)], 2q23.3 (rs1367374; OR = 1.37 (95% CI: 1.21-1.55); P = 4.0×10(-7)), 14q24.2 (rs143046984; OR = 1.65 (95% CI: 1.36-2.01); P = 4.1×10(-7)) and 16q12.2 [rs142319636; OR = 1.69 (95% CI: 1.37-2.08); P=7.8×10(-7)].
rs4811050 in
LOC105372657 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs2184857 in
LOC105373224 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs11884596 in
LOC105373831 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs13020391 in
LOC105373881;PNKD gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs4147045 in
LOC105374510 gene and
Colorectal Carcinoma
PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
rs2450115 in
LOC105375712 gene and
Colorectal Carcinoma
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
PMID 26965516 2016 We identified 4 loci associated with CRC risk; P values for the most significant variant in each locus ranged from 3.92 × 10(-8) to 1.24 × 10(-12): 6p21.1 (rs4711689), 8q23.3 (rs2450115, rs6469656), 10q24.3 (rs4919687), and 12p13.3 (rs11064437).
rs10795668 in
LOC105376400 gene and
Colorectal Carcinoma
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 18372905 2008 In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P = 2.5 x 10(-13) overall; P = 6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P = 3.3 x 10(-18) overall; P = 9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
rs35470271 in
LOC105377043 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs75316749 in
LOC107986051 gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs9409565 in
LOC107987100 gene and
Colorectal Carcinoma
PMID 27723779 2016 Compared to non-/occasional drinking light to moderate alcohol consumption was associated with a lower risk of colorectal cancer among individuals with rs9409565 CT genotype (OR, 0.82 [95% CI, 0.74-0.91]; P = 2.1×10-4) and TT genotypes (OR,0.62 [95% CI, 0.51-0.75]; P = 1.3×10-6) but not associated among those with the CC genotype (p = 0.059).
rs75954926 in
LOC107987251 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs16878812 in
LOC112267956;FKBP5 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs117079142 in
LOC112268030;UTP23 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs16944613 in
LOC112268163;CRTC3 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs742223 in
LOC340184 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs10980628 in
LPAR1 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs812481 in
LRIG1 gene and
Colorectal Carcinoma
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
rs4759277 in
LRP1 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs7398375 in
LRP1-AS;LRP1 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs4378954 in
LSAMP gene and
Colorectal Carcinoma
PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
rs658191 in
MACF1 gene and
Colorectal Carcinoma
PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.
PMID 27207650 2016 We discovered 17 variants across 4 independent regions that merit further investigation due to suggestive CRC associations (P < 1×10(-6)) at 1p34.3 (rs7528276; Odds Ratio (OR) = 1.86 [95% confidence interval (CI): 1.47-2.36); P = 2.5×10(-7)], 2q23.3 (rs1367374; OR = 1.37 (95% CI: 1.21-1.55); P = 4.0×10(-7)), 14q24.2 (rs143046984; OR = 1.65 (95% CI: 1.36-2.01); P = 4.1×10(-7)) and 16q12.2 [rs142319636; OR = 1.69 (95% CI: 1.37-2.08); P=7.8×10(-7)].
rs12979278 in
MAMSTR gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs1057519367 in
MFSD4B;REV3L gene and
Colorectal Carcinoma
PMID 27165003 2016 The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
rs2516420 in
MICB-DT gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs267607894 in
MLH1 gene and
Colorectal Carcinoma
PMID 10882759 2000 Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.
PMID 14504054 2003 Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
PMID 8872463 1996 Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
PMID 9032648 1997 Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.
PMID 15184898 2004 The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer.
PMID 9611074 1998 DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer.
PMID 12132870 2001 hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.
PMID 12655564 2003 Genetic analysis of familial colorectal cancer in Israeli Arabs.
PMID 18033691 2008 Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
PMID 9087566 1997 MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
PMID 10598809 1999 Missense mutations in hMLH1 associated with colorectal cancer.
PMID 15184898 2004 Association studies identified a new MLH1 variant (415G-->C, resulting in the amino acid substitution D132H) in approximately 1.3% of Israeli individuals with CRC self-described as Jewish, Christian and Muslim.
PMID 18205192 2008 The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.
PMID 22753075 2012 Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
PMID 20020535 2010 A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
rs142319636 in
MMP2 gene and
Colorectal Carcinoma
PMID 27207650 2016 We discovered 17 variants across 4 independent regions that merit further investigation due to suggestive CRC associations (P < 1×10(-6)) at 1p34.3 (rs7528276; Odds Ratio (OR) = 1.86 [95% confidence interval (CI): 1.47-2.36); P = 2.5×10(-7)], 2q23.3 (rs1367374; OR = 1.37 (95% CI: 1.21-1.55); P = 4.0×10(-7)), 14q24.2 (rs143046984; OR = 1.65 (95% CI: 1.36-2.01); P = 4.1×10(-7)) and 16q12.2 [rs142319636; OR = 1.69 (95% CI: 1.37-2.08); P=7.8×10(-7)].
rs587779973 in
MSH2 gene and
Colorectal Carcinoma
PMID 15996210 2005 Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.
PMID 12792735 2004 Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene.
PMID 9559627 1998 Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.
PMID 14504054 2003 Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
rs63750664 in
MSH6 gene and
Colorectal Carcinoma
PMID 11709755 2002 Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.
PMID 10537275 1999 Germ-line msh6 mutations in colorectal cancer families.
PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
PMID 14520694 2003 MSH6 germline mutations are rare in colorectal cancer families.
PMID 14961575 2004 Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.
PMID 11470537 2001 Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype.
PMID 15483016 2004 Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.
PMID 11807791 2002 Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.
PMID 10699937 2000 Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.
PMID 12522549 2003 Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?
PMID 10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.
PMID 11153917 2000 Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?
rs2020912 in
MSH6;FBXO11 gene and
Colorectal Carcinoma
PMID 14520694 2003 MSH6 germline mutations are rare in colorectal cancer families.
PMID 14961575 2004 Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.
PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
PMID 15483016 2004 Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.
PMID 12522549 2003 Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?
PMID 11807791 2002 Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.
PMID 11470537 2001 Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype.
PMID 11709755 2002 Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.
PMID 10537275 1999 Germ-line msh6 mutations in colorectal cancer families.
PMID 10699937 2000 Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.
PMID 10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.
PMID 11153917 2000 Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?
rs2974935 in
MTX1 gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs34612342 in
MUTYH gene and
Colorectal Carcinoma
PMID 19732775 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
PMID 20725929 2010 Leiden Open Variation Database of the MUTYH gene.
PMID 23605219 2014 MUTYH-associated colorectal cancer and adenomatous polyposis.
PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
PMID 11818965 2002 Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.
PMID 19836313 2009 Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.
PMID 19032956 2009 The mean ages of CRC diagnosis in patients were 58 years (homozygous G396D) and 52 years (compound heterozygous G396D/Y179C) versus 46 years (homozygous Y179C; P = .001, linear regression).
PMID 19394335 2009 Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
PMID 20848659 2010 Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
PMID 16140997 2005 Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).
PMID 16557584 2006 MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
PMID 17368238 2007 Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study.
PMID 21443744 2011 Frequent mutation in North African patients with MUTYH-associated polyposis.
PMID 22744763 2012 High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.
PMID 17122612 2006 Implication of MYH in colorectal polyposis.
PMID 15366000 2004 Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.
PMID 18534194 2008 Characterization of mutant MUTYH proteins associated with familial colorectal cancer.
PMID 19032956 2009 Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
PMID 15931596 2005 Germline susceptibility to colorectal cancer due to base-excision repair gene defects.
PMID 15635083 2005 The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients.
PMID 15236166 2004 MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps.
PMID 19531215 2009 Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
PMID 19245865 2009 Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study.
rs10936599 in
MYNN gene and
Colorectal Carcinoma
PMID 20972440 2010 We identified associations at four new CRC risk loci: 1q41 (rs6691170, odds ratio (OR) = 1.06, P = 9.55 × 10⁻¹⁰ and rs6687758, OR = 1.09, P = 2.27 × 10⁻⁹, 3q26.2 (rs10936599, OR = 0.93, P = 3.39 × 10⁻⁸), 12q13.13 (rs11169552, OR = 0.92, P = 1.89 × 10⁻¹⁰ and rs7136702, OR = 1.06, P = 4.02 × 10⁻⁸) and 20q13.33 (rs4925386, OR = 0.93, P = 1.89 × 10⁻¹⁰).
rs9583269 in
MYO16 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs174533 in
MYRF;TMEM258 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs73068325 in
MZF1-AS1;MZF1 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs481519 in
NEK10 gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs73208120 in
NOS1 gene and
Colorectal Carcinoma
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
rs3830041 in
NOTCH4 gene and
Colorectal Carcinoma
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
rs12603526 in
NXN gene and
Colorectal Carcinoma
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs4836891 in
OR1J2 gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs6983267 in
PCAT1;CCAT2;CASC8;POU5F1B gene and
Colorectal Carcinoma
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 21242260 2011 Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 in SMAD7) and one environmental factor (alcohol drinking) which appear to increase CRC risk approximately twofold.
PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 18372905 2008 A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
PMID 17618284 2007 To validate this finding, we genotyped rs6983267 in three additional CRC case-control series (4,361 affected individuals and 3,752 controls; 1,901 affected individuals and 1,079 controls; 1,072 affected individuals and 415 controls) and replicated the association, providing P = 1.27 x 10(-14) (allelic test) overall, with odds ratios (ORs) of 1.27 (95% confidence interval (c.i.): 1.16-1.39) and 1.47 (95% c.i.
PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
PMID 28960316 2018 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
rs10808555 in
PCAT1;POU5F1B;CASC8 gene and
Colorectal Carcinoma
PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
rs2286313 in
PCNX1 gene and
Colorectal Carcinoma
PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.
rs137853148 in
PDGFRL gene and
Colorectal Carcinoma
PMID 24996433 2014 RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group.
PMID 25373533 2015 Updated guidelines for biomarker testing in colorectal carcinoma: a national consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.
PMID 23429431 2013 Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?
PMID 23852704 2014 Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.
PMID 17060676 2006 ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer.
PMID 7898930 1995 Isolation of a candidate tumor suppressor gene on chromosome 8p21.3-p22 that is homologous to an extracellular domain of the PDGF receptor beta gene.
PMID 22138009 2011 NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology.
PMID 25006736 2014 Multitarget stool DNA testing for colorectal-cancer screening.
PMID 23012255 2012 ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making.
PMID 19042984 2008 National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers.
PMID 22855150 2012 Guidelines for biomarker testing in colorectal carcinoma (CRC): a national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM).
rs6058093 in
PIGU gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs104886003 in
PIK3CA gene and
Colorectal Carcinoma
PMID 15930273 2005 Functional analysis of PIK3CA gene mutations in human colorectal cancer.
PMID 15994075 2005 The prevalence of PIK3CA mutations in gastric and colon cancer.
rs114436839 in
PLCH1 gene and
Colorectal Carcinoma
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs2250430 in
PLEKHG6 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs3731861 in
PNKD;CATIP-AS2 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs3824999 in
POLD3 gene and
Colorectal Carcinoma
PMID 22634755 2012 We identified three new CRC risk loci at 6p21 (rs1321311, near CDKN1A; P = 1.14 × 10(-10)), 11q13.4 (rs3824999, intronic to POLD3; P = 3.65 × 10(-10)) and Xp22.2 (rs5934683, near SHROOM2; P = 7.30 × 10(-10)) This brings the number of independent loci associated with CRC risk to 20 and provides further insight into the genetic architecture of inherited susceptibility to CRC.
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs7013278 in
POU5F1B;CCAT2;CASC8;PCAT1 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs12682374 in
POU5F1B;PCAT1;CCAT2;CASC8 gene and
Colorectal Carcinoma
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs7606562 in
PPP1R21 gene and
Colorectal Carcinoma
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
rs6066825 in
PREX1 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
rs11844632 in
RAD51B gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs2300206 in
RALY gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs9901225 in
RETREG3 gene and
Colorectal Carcinoma
PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
rs10411210 in
RHPN2 gene and
Colorectal Carcinoma
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
PMID 19011631 2008 We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)).
PMID 24737748 2014 Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs6091189 in
RIPOR3 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs17503919 in
RNGTT gene and
Colorectal Carcinoma
PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
rs3787089 in
RTEL1-TNFRSF6B;RTEL1 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs2738783 in
RTEL1;RTEL1-TNFRSF6B gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs7923556 in
RTKN2 gene and
Colorectal Carcinoma
PMID 24448986 2014 Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.
rs4450168 in
SBF2 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs7740797 in
SCAF8 gene and
Colorectal Carcinoma
PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
rs4360494 in
SF3A3 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs3184504 in
SH2B3;ATXN2 gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
PMID 26621817 2015 A combined analysis revealed one genome-wide significant polymorphism, rs3184504, on chromosome 12q24 (OR = 1.10, P = 7.23 × 10(-9)) with shared effects on CRC and EC risk.
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
rs2732875 in
SHROOM2 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs9481067 in
SLC22A16 gene and
Colorectal Carcinoma
PMID 29942513 2018 Associations of single nucleotide polymorphisms with mucinous colorectal cancer: genome-wide common variant and gene-based rare variant analyses.
rs7758229 in
SLC22A3 gene and
Colorectal Carcinoma
PMID 21242260 2011 Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 in SMAD7) and one environmental factor (alcohol drinking) which appear to increase CRC risk approximately twofold.
rs6781752 in
SLC25A26 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs77776598 in
SLC6A18 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs10049390 in
SLCO2A1 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs56324967 in
SMAD3 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs12594720 in
SMAD6 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs11874392 in
SMAD7 gene and
Colorectal Carcinoma
PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
PMID 17934461 2007 A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
PMID 18372901 2008 Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 17934461 2007 Across the four sample sets, the association between rs4939827 and CRC was highly statistically significant (P(trend) = 1.0 x 10(-12)).
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
PMID 21761138 2012 Meta-analysis of new genome-wide association studies of colorectal cancer risk.
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
PMID 24448986 2014 SNPs rs7229639 and rs4939827 explained approximately 1% of the familial relative risk of CRC in East Asians.
rs12427600 in
SMAD9 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs912956 in
SPIN3 gene and
Colorectal Carcinoma
PMID 22532847 2012 Pooled sample-based GWAS: a cost-effective alternative for identifying colorectal and prostate cancer risk variants in the Polish population.
rs11064437 in
SPSB2 gene and
Colorectal Carcinoma
PMID 26965516 2016 We identified 4 loci associated with CRC risk; P values for the most significant variant in each locus ranged from 3.92 × 10(-8) to 1.24 × 10(-12): 6p21.1 (rs4711689), 8q23.3 (rs2450115, rs6469656), 10q24.3 (rs4919687), and 12p13.3 (rs11064437).
rs377429877 in
STARD13 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs12689028 in
STS gene and
Colorectal Carcinoma
PMID 22532847 2012 Pooled sample-based GWAS: a cost-effective alternative for identifying colorectal and prostate cancer risk variants in the Polish population.
rs56848936 in
SYMPK gene and
Colorectal Carcinoma
PMID 28295283 2017 Novel colon cancer susceptibility variants identified from a genome-wide association study in African Americans.
rs448513 in
TANC1 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs551510 in
TBX3 gene and
Colorectal Carcinoma
PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
rs515746 in
TBX3;LOC105370000 gene and
Colorectal Carcinoma
PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
rs11196170 in
TCF7L2 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
rs3181245 in
TDP2 gene and
Colorectal Carcinoma
PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
rs1028166 in
TENM3;TENM3-AS1 gene and
Colorectal Carcinoma
PMID 25192705 2014 No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.
rs2735940 in
TERT gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs1391441 in
TET2-AS1;TET2 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs4711689 in
TFEB gene and
Colorectal Carcinoma
PMID 26965516 2016 We identified 4 loci associated with CRC risk; P values for the most significant variant in each locus ranged from 3.92 × 10(-8) to 1.24 × 10(-12): 6p21.1 (rs4711689), 8q23.3 (rs2450115, rs6469656), 10q24.3 (rs4919687), and 12p13.3 (rs11064437).
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs2241716 in
TGFB1 gene and
Colorectal Carcinoma
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
rs992157 in
TMBIM1;PNKD gene and
Colorectal Carcinoma
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 28960316 2018 The previously reported association between the single-nucleotide polymorphism (SNP) rs992157 (2q35) and CRC was independently replicated (p = 2.08 × 10<sup>-4</sup> ; OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p = 1.50 × 10<sup>-9</sup> ; OR, 1.12; 95% CI, 1.08-1.16).
rs1078643 in
TMEM220-AS1;TMEM238L gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
rs174537 in
TMEM258;MYRF gene and
Colorectal Carcinoma
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
rs9797885 in
TMEM91 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs1963413 in
TMEM91;B9D2 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs2052678 in
TMTC1 gene and
Colorectal Carcinoma
PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
rs1427667 in
TNS1 gene and
Colorectal Carcinoma
PMID 21242260 2011 Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population.
rs3801081 in
TNS3 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs2179593 in
TOX2 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs2186607 in
TRPC6 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs12143541 in
TTC22 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs11168936 in
TUBA1C gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs76316943 in
UTP23 gene and
Colorectal Carcinoma
PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
rs10506868 in
VTI1A gene and
Colorectal Carcinoma
PMID 26965516 2016 We also identified 2 risk variants at loci previously associated with CRC: 10q25.2 (rs10506868) and 20q13.3 (rs6061231).
PMID 25105248 2014 This study reveals a new pan-ethnic CRC risk locus at 10q25 (rs12241008, intronic to VTI1A; P=1.4 × 10(-9)), providing additional insight into the aetiology of CRC and highlighting the value of association mapping in diverse populations.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs1912804 in
WWOX gene and
Colorectal Carcinoma
PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.
rs10511330 in
ZBTB20 gene and
Colorectal Carcinoma
PMID 29942513 2018 Associations of single nucleotide polymorphisms with mucinous colorectal cancer: genome-wide common variant and gene-based rare variant analyses.
rs1250567 in
ZMIZ1 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs704017 in
ZMIZ1-AS1 gene and
Colorectal Carcinoma
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
rs12646351 in
ZNF827 gene and
Colorectal Carcinoma
PMID 30557370 2018 Genome wide association study to identify predictors for severe skin toxicity in colorectal cancer patients treated with cetuximab.