Condition: Colorectal cancer, hereditary nonpolyposis, type 1


rs63750342 in FBXO11;MSH6 gene and Colorectal cancer, hereditary nonpolyposis, type 1 PMID 10348829 1999 New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

PMID 14974087 2004 Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

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.

rs63750971 in MLH1 gene and Colorectal cancer, hereditary nonpolyposis, type 1 PMID 14517962 2003 Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families.

rs146421227 in MSH2 gene and Colorectal cancer, hereditary nonpolyposis, type 1 PMID 15896463 2005 A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy.

PMID 9419403 1997 Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.

PMID 10829038 2000 Population-based molecular detection of hereditary nonpolyposis colorectal cancer.

PMID 9889267 1999 Functional analysis of human MutSalpha and MutSbeta complexes in yeast.

PMID 9621522 1998 Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers.

PMID 18822302 2008 Functional analysis of HNPCC-related missense mutations in MSH2.

PMID 10612836 2000 Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families.

PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

PMID 15046096 2004 Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer.

PMID 18561205 2008 A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

PMID 10573010 2000 Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.

PMID 21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

PMID 12658575 2003 Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

PMID 7874129 1994 Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.

PMID 9718327 1998 Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.

PMID 15870828 2005 Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.

PMID 12124176 2002 HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.

PMID 18781619 2008 MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.

PMID 16451135 2006 Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

PMID 10375096 1999 Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.

PMID 22167527 2012 Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.

PMID 24310308 2014 ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).

PMID 25645574 2015 ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

PMID 25003300 2014 Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer.

PMID 25070057 2014 Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 11598466 2001 Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation.

PMID 23408351 2013 Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.

PMID 25452455 2015 Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 23535968 2013 Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 25711197 2015 Lynch Syndrome: A Primer for Urologists and Panel Recommendations.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 23329266 2013 Splice site mutations in mismatch repair genes and risk of cancer in the general population.

PMID 22949379 2013 A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

PMID 19459153 2009 High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.

PMID 19267393 2009 Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.

PMID 19760518 2009 A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations.

PMID 12352241 2002 Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation.

PMID 16395668 2006 Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 26951660 2016 Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

PMID 21239990 2011 Integrated analysis of unclassified variants in mismatch repair genes.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 18383312 2008 Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

PMID 24278394 2013 Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

PMID 25117503 2014 High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.

PMID 21681552 2011 Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

PMID 24344984 2013 Mutation spectrum in South American Lynch syndrome families.

PMID 10874318 2000 Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC).

PMID 23990280 2014 Lynch Syndrome in high risk Ashkenazi Jews in Israel.

PMID 17312306 2007 Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.

PMID 15235034 2004 Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma.

PMID 7585065 1995 Genetic instability occurs in the majority of young patients with colorectal cancer.

PMID 15680406 2005 Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer.

PMID 20587412 2010 Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

PMID 14574162 2003 The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours.

PMID 19731080 2010 Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.

PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

PMID 8592341 1995 Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes.

PMID 14594944 2003 The novel germline mutation of hMSH2 gene in a case of a hereditary non-polyposis colorectal cancer (HNPCC) patient who meets the revised Amsterdam criteria.

PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

PMID 18566915 2009 Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

PMID 27601186 2016 Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

PMID 15955785 2005 Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.

PMID 15655560 2005 hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients.

PMID 11920650 2002 Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.

PMID 12626904 2003 Early-age-at-onset colorectal cancer and microsatellite instability as markers of hereditary nonpolyposis colorectal cancer.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 22883484 2013 Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.

PMID 20591884 2010 Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

PMID 26517685 2015 Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.

PMID 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

PMID 26053027 2015 Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 12537652 2002 Patient vs. physician as the target of educational outreach about screening for an inherited susceptibility to colorectal cancer.

PMID 17101317 2006 Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.

PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

PMID 15991314 2005 Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.

PMID 27606285 2016 MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

PMID 28422960 2017 Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.

PMID 23248292 2013 Proteasome inhibition rescues clinically significant unstable variants of the mismatch repair protein Msh2.

PMID 12624141 2003 Cancer risk in 348 French MSH2 or MLH1 gene carriers.

PMID 17720936 2007 Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

PMID 15849733 2005 Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

PMID 16175654 2005 Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified.

PMID 19669161 2010 Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.

PMID 23604856 2013 Cancer risk in Lynch Syndrome.

PMID 18559331 2008 Concise handbook of familial cancer susceptibility syndromes - second edition.

PMID 19659756 2009 Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications.

PMID 21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

PMID 18951462 2008 Mechanisms of pathogenicity in human MSH2 missense mutants.

PMID 15235030 2004 A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.

PMID 15713769 2005 Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

rs587783056 in MSH6;FBXO11 gene and Colorectal cancer, hereditary nonpolyposis, type 1 PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

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 18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

PMID 1548301 1992 In vivo measurement of the volume of distribution of water in cerebral grey matter: effects on the calculation of regional cerebral blood flow.

PMID 10508506 1999 Familial endometrial cancer in female carriers of MSH6 germline mutations.

rs63750250 in PMS2 gene and Colorectal cancer, hereditary nonpolyposis, type 1 PMID 20205264 2010 Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 15887099 2005 Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

rs587779333 in PMS2;AIMP2 gene and Colorectal cancer, hereditary nonpolyposis, type 1 PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.