Condition: Malignant neoplasm of breast


rs11540855 in ABHD8 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs12982058 in ABHD8;MRPL34 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs6828523 in ADAM29 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs12906542 in ADAMTS7P3 gene and Malignant neoplasm of breast PMID 23354978 2013 Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.

rs10425939 in ANKLE1 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

PMID 20852631 2010 Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR) = 0.83, 95% CI 0.75-0.92, P(trend) = 0.0003) and an association with estrogen receptor-positive disease in the opposite direction (OR = 1.07, 95% CI 1.01-1.14, P(trend) = 0.016).

rs10419397 in ANKLE1;BABAM1;USHBP1 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs73509996 in ANKLE1;USHBP1 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs11666308 in ANO8 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs11552449 in AP4B1;DCLRE1B gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs527616 in AQP4-AS1 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs1436904 in AQP4-AS1;CHST9 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs720475 in ARHGEF5 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs10420922 in BABAM1;USHBP1 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

PMID 20852631 2010 Five SNPs on 19p13 were associated with breast cancer risk (P(trend) = 2.3 × 10⁻⁹ to P(trend) = 3.9 × 10⁻⁷), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89).

rs1057517589 in BARD1 gene and Malignant neoplasm of breast PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 17848578 2007 Structural requirements for the BARD1 tumor suppressor in chromosomal stability and homology-directed DNA repair.

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

PMID 26738429 2016 New concepts on BARD1: Regulator of BRCA pathways and beyond.

PMID 17550235 2007 Crystal structure of the BARD1 BRCT domains.

PMID 20077502 2010 Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.

PMID 21344236 2012 Cancer predisposing BARD1 mutations in breast-ovarian cancer families.

PMID 11943588 2002 BRCA1-dependent and independent functions of BARD1.

PMID 26546047 2016 Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.

PMID 26556299 2016 Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 25428789 2015 Inherited predisposition to breast cancer among African American women.

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 26534844 2016 Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

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

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

rs1450793674 in BRCA1 gene and Malignant neoplasm of breast PMID 12427738 2003 Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.

PMID 10323242 1999 Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.

PMID 9760198 1998 A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.

PMID 8776600 1996 Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

PMID 12442275 2002 BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

PMID 18285836 2008 Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

PMID 28364669 2017 Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.

PMID 9482581 1998 Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.

PMID 8723683 1996 Mutations in the BRCA1 gene in Japanese breast cancer patients.

PMID 11114888 2000 Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.

PMID 7894491 1994 Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.

PMID 11301010 2001 BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.

PMID 21473589 2011 Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.

PMID 23867111 2013 A high-throughput functional complementation assay for classification of BRCA1 missense variants.

PMID 7894493 1994 Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

PMID 7939630 1994 BRCA1 mutations in primary breast and ovarian carcinomas.

PMID 14722926 2004 Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

PMID 12938098 2003 Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

PMID 7545954 1994 A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

PMID 15133502 2004 Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.

PMID 24366402 2014 Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

PMID 17508274 2007 Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

PMID 24366376 2014 Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.

PMID 18163131 2008 The emerging landscape of breast cancer susceptibility.

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

rs786203152 in BRCA1;NBR2 gene and Malignant neoplasm of breast PMID 7939630 1994 BRCA1 mutations in primary breast and ovarian carcinomas.

PMID 8776600 1996 Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

PMID 9760198 1998 A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.

PMID 8723683 1996 Mutations in the BRCA1 gene in Japanese breast cancer patients.

PMID 7894491 1994 Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.

PMID 7894493 1994 Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

PMID 7545954 1994 A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

PMID 10323242 1999 Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.

PMID 9482581 1998 Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.

PMID 15133502 2004 Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.

PMID 11114888 2000 Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.

PMID 12938098 2003 Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

PMID 11301010 2001 BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.

PMID 28364669 2017 Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.

PMID 12442275 2002 BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

PMID 14722926 2004 Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

PMID 21473589 2011 Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.

PMID 18285836 2008 Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

PMID 23867111 2013 A high-throughput functional complementation assay for classification of BRCA1 missense variants.

PMID 12427738 2003 Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.

rs11571833 in BRCA2 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 16793542 2006 Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.

PMID 9150152 1997 A low proportion of BRCA2 mutations in Finnish breast cancer families.

PMID 9971877 1999 Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.

PMID 10978364 2000 BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease.

PMID 9654203 1998 High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families.

PMID 15172753 2004 Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.

PMID 9609997 1998 High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.

PMID 12938098 2003 Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

PMID 11948477 2002 Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer.

PMID 15026808 2004 BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

PMID 12569143 2003 BRCA2 germline mutations in familial pancreatic carcinoma.

PMID 12145750 2002 BRCA2 T2722R is a deleterious allele that causes exon skipping.

PMID 15365993 2004 BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

PMID 12373604 2002 BRCA2 gene mutations in families with aggregations of breast and stomach cancers.

PMID 14722926 2004 Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

PMID 11241844 2001 An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD).

PMID 11139248 2001 BRCA2 germline mutations in male breast cancer patients in the Polish population.

PMID 11149425 2001 Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.

PMID 10399947 1999 Germline brca2 sequence variants in patients with ocular melanoma.

PMID 12442274 2002 BRCA1 and BRCA2 sequence variants in Chinese breast cancer families.

PMID 17508274 2007 Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

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

PMID 18163131 2008 The emerging landscape of breast cancer susceptibility.

PMID 24366402 2014 Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

PMID 24366376 2014 Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.

rs1057519365 in BRIP1 gene and Malignant neoplasm of breast PMID 25058500 2015 Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

PMID 21964575 2011 Mutations in BRIP1 confer high risk of ovarian cancer.

PMID 21127055 2011 Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control.

PMID 20159562 2010 BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 18628483 2008 A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

PMID 21345144 2011 Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.

PMID 11301010 2001 BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.

PMID 24366402 2014 Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

PMID 17508274 2007 Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

PMID 14983014 2004 The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations.

PMID 24366376 2014 Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.

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

PMID 18163131 2008 The emerging landscape of breast cancer susceptibility.

PMID 17033622 2006 Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

PMID 16116423 2005 The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 28709830 2017 Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.

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

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 26921362 2016 No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

PMID 20616022 2010 Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.

PMID 16280053 2005 Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

rs6486219 in CALCB gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs143494790 in CAPN5 gene and Malignant neoplasm of breast PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

rs12922061 in CASC16 gene and Malignant neoplasm of breast PMID 24143190 2013 Genome-wide association study of breast cancer in the Japanese population.

PMID 21263130 2011 Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.

PMID 19330030 2009 A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).

PMID 20872241 2011 A combined analysis of genome-wide association studies in breast cancer.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 17529967 2007 Genome-wide association study identifies novel breast cancer susceptibility loci.

PMID 17529974 2007 At present, no genes have been identified in the linkage disequilibrium block containing rs13387042. rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone.

PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

PMID 20585626 2010 SNP rs4784227 is located at 16q12.1, a region identified previously for breast cancer risk among Europeans.

rs13281615 in CASC8;POU5F1B;PCAT1;CASC21 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 17529967 2007 Genome-wide association study identifies novel breast cancer susceptibility loci.

rs6472903 in CASC9 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs3757318 in CCDC170 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

rs3734805 in CCDC170;LOC107986528 gene and Malignant neoplasm of breast PMID 21263130 2011 We also identified two variants (rs3734805 and rs9383938) mapping to 6q25.1 estrogen receptor 1 (ESR1), which were associated with breast cancer in subjects of northern European ancestry (rs3734805: OR = 1.19, 95% CI = 1.11 to 1.27, P = 1.35 × 10(-7); rs9383938: OR = 1.18, 95% CI = 1.11 to 1.26, P = 1.41 × 10(-7)).

rs941764 in CCDC88C gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs1011970 in CDKN2B-AS1 gene and Malignant neoplasm of breast PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs13329835 in CDYL2 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs7308077 in CFAP54 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs1060502684 in CHEK2 gene and Malignant neoplasm of breast PMID 19768534 2010 A novel germline CHEK2 deletion truncating the kinase domain identified in a French family with high-risk of breast/ovarian cancer.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 21244692 2011 Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

PMID 21876083 2011 Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.

PMID 24713400 2014 A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland.

PMID 12855706 2003 Autophosphorylation of checkpoint kinase 2 at serine 516 is required for radiation-induced apoptosis.

PMID 12909615 2003 Karyopherin-alpha2 protein interacts with Chk2 and contributes to its nuclear import.

PMID 18004398 2007 CHK2 kinase: cancer susceptibility and cancer therapy - two sides of the same coin?

PMID 24879340 2014 Identification of two poorly prognosed ovarian carcinoma subtypes associated with CHEK2 germ-line mutation and non-CHEK2 somatic mutation gene signatures.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 26506619 2015 Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma.

PMID 17085682 2006 A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer.

PMID 12533788 2003 Mutations in CHEK2 associated with prostate cancer risk.

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

PMID 15095295 2004 Limited relevance of the CHEK2 gene in hereditary breast cancer.

PMID 18058223 2008 Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations.

PMID 15810020 2005 Association of two mutations in the CHEK2 gene with breast cancer.

PMID 27616075 2017 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

PMID 15492928 2004 CHEK2 is a multiorgan cancer susceptibility gene.

PMID 25583358 2015 CHEK2 mutations and the risk of papillary thyroid cancer.

PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

PMID 11053450 2001 Characterization of tumor-associated Chk2 mutations.

PMID 15535844 2004 We report here on the frequency of three CHEK2 variants that alter protein function--1100delC, R145W, and I175T--in 506 cases and 459 controls from a population based, case-control study of breast cancer conducted in young women from western Washington.

PMID 12049740 2002 Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2.

PMID 27067391 2016 A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

PMID 11390408 2001 The hCds1 (Chk2)-FHA domain is essential for a chain of phosphorylation events on hCds1 that is induced by ionizing radiation.

PMID 11571648 2001 Functional impact of concomitant versus alternative defects in the Chk2-p53 tumour suppressor pathway.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 11298456 2001 The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.

PMID 11719428 2001 Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

PMID 15239132 2004 CHEK2 variant I157T may be associated with increased breast cancer risk.

PMID 23334666 2013 The genetic landscape of high-risk neuroblastoma.

PMID 22419737 2012 Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

PMID 16982735 2006 Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation.

PMID 22114986 2011 CHEK2 contribution to hereditary breast cancer in non-BRCA families.

PMID 18085035 2007 Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer.

PMID 18571837 2008 Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer.

PMID 15649950 2005 Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 24880342 2014 Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.

PMID 19876921 2010 CHEK2 mutations and HNPCC-related colorectal cancer.

PMID 18725978 2008 CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

PMID 23713947 2013 In total, 26,336 cases and 44,219 controls from 18 case-control studies were used in this meta-analysis, and significant associations of the CHEK2 I157T variant with cancer susceptibility were found (OR, 1.39; 95% CI, 1.19-1.63; p<0.0001), breast cancer (OR=1.58, 95% CI=1.42-1.75, p<0.00001) and colorectal cancer (OR=1.67, 95% CI=1.24-2.26, p=0.0008).

PMID 23296741 2013 The risk of gastric cancer in carriers of CHEK2 mutations.

PMID 15239132 2004 The I157T variant may be associated with breast cancer risk, but the risk is lower than for 1100delC.

PMID 16835864 2006 Characterization of CHEK2 mutations in prostate cancer.

PMID 16574953 2006 Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia.

PMID 21876083 2011 Seven thousand four hundred ninety-four BRCA1 mutation-negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G>A, 1100delC, and I157T).

PMID 22811390 2013 BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

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

PMID 25318351 2015 Use of panel tests in place of single gene tests in the cancer genetics clinic.

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 27751358 2016 Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.

PMID 25619829 2015 In patients without family history, Y390C carriers tend to develop breast cancer early, before 35 years of age.

PMID 27553368 2016 Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 17508274 2007 Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

PMID 12094328 2002 A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.

PMID 24366402 2014 Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

PMID 24366376 2014 Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.

PMID 18163131 2008 The emerging landscape of breast cancer susceptibility.

PMID 21618645 2011 A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women.

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

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 28125075 2017 Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.

PMID 12454775 2002 CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours.

PMID 12610780 2003 To evaluate the possible association of R117G and two germline variants reported elsewhere, R145W and I157T with breast cancer, we screened 737 BRCA1/2-negative familial breast cancer cases from 605 families, 459 BRCA1/2-positive cases from 335 families, and 723 controls from the United Kingdom, the Netherlands, and North America.

PMID 27595995 2016 PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

PMID 29945567 2018 Pancreatic cancer as a sentinel for hereditary cancer predisposition.

PMID 27798748 2017 Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.

PMID 30256826 2018 Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.

PMID 30128536 2019 Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

PMID 28503720 2017 Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 27510020 2016 The majority of the patients (>95%) were affected with invasive ductal carcinoma (IDC), 52.1% were diagnosed with grade III tumors and 56.2% and 27.5% with advanced stages III and IV.Two novel nonsense variants i.e. c.58C>T (P.Q20X) and c.256G>T (p.E85X) at exon 1 and 2 in two breast cancer patients were identified, both novel and not reported elsewhere.

PMID 22058428 2011 CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.

PMID 18172190 2008 CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls.

PMID 19338683 2009 The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.

PMID 15122511 2004 CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.

PMID 21807500 2011 Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility.

PMID 22994785 2012 CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

PMID 24506336 2014 Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.

PMID 27708748 2016 Prevalence of the CHEK2 R95* germline mutation.

PMID 27028851 2016 Comparative genomic analysis of primary tumors and metastases in breast cancer.

PMID 17721994 2007 Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.

PMID 27696107 2017 Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

PMID 28386063 2017 Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.

PMID 28608266 2018 Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

PMID 26556299 2016 Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 15361853 2004 Alternative splicing and mutation status of CHEK2 in stage III breast cancer.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 22527104 2012 Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

rs2075555 in COL1A1 gene and Malignant neoplasm of breast PMID 17903305 2007 The top SNP associations in GEE models for each trait were as follows: breast cancer, rs2075555, p = 8.0 x 10(-8) in COL1A1; and prostate cancer, rs9311171, p = 1.75 x 10(-6) in CTDSPL.

rs515726118 in DCTN5;PALB2 gene and Malignant neoplasm of breast PMID 24136930 2013 The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer.

PMID 17200668 2007 PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

PMID 25099575 2014 Breast-cancer risk in families with mutations in PALB2.

rs10423120 in DDA1 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs16857609 in DIRC3 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs2016394 in DLX2-DT gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs1432679 in EBF1 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs4808801 in ELL gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs11249433 in EMBP1 gene and Malignant neoplasm of breast PMID 19330030 2009 A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs13393577 in ERBB4 gene and Malignant neoplasm of breast PMID 22452962 2012 Furthermore, this study provides strong evidence implicating rs13393577 at 2q34 as a new risk variant for breast cancer.

rs796065354 in ESR1 gene and Malignant neoplasm of breast PMID 17545528 2007 Here, we have optimized the detection of a somatic mutation, an A908G transition of ERalpha, and examined its association with clinical and biological features of invasive breast cancer.

PMID 23236557 2013 A population-based case-control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for presence of the ER-α A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA sequencing.

PMID 17553133 2007 There was also the suggestion that longer duration of oral contraceptive (OC) use (OR = 3.73, 95% CI = 1.16 to 12.03; Ptrend = 0.02 for use of more than 10 years) and recent use of OCs (OR = 3.63, 95% CI = 0.80 to 16.45; Ptrend = 0.10 for use within 10 years) were associated with ESR1 A908G mutation-positive breast cancer; however, ORs for comparison of the two case subgroups were not statistically significant.

PMID 10945602 2000 A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions.

PMID 16280033 2005 This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors.

PMID 22976474 2012 A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

rs62020347 in FANCI gene and Malignant neoplasm of breast PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

rs10736303 in FGFR2 gene and Malignant neoplasm of breast PMID 17529967 2007 Genome-wide association study identifies novel breast cancer susceptibility loci.

PMID 21263130 2011 Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.

PMID 20872241 2011 A combined analysis of genome-wide association studies in breast cancer.

PMID 17529973 2007 A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer.

PMID 24143190 2013 Genome-wide association study of breast cancer in the Japanese population.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 19330030 2009 A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).

PMID 22951594 2012 In addition, rs3750817 in intron 2 of the fibroblast growth factor receptor 2 gene, which was reported to be associated with breast cancer susceptibility, was significantly replicated with P(combined) of 8.47 × 10(-8) with OR=1.22.

rs343908 in FMN1 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs11075995 in FTO gene and Malignant neoplasm of breast PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs11201944 in GRID1 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs17262792 in GRID2 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs2943559 in HNF4G gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs142149919 in HSPG2 gene and Malignant neoplasm of breast PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

rs6762644 in ITPR1 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs3760982 in KCNN4 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs145889899 in LDLRAD1 gene and Malignant neoplasm of breast PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

rs6678914 in LGR6 gene and Malignant neoplasm of breast PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

rs6469633 in LINC00536 gene and Malignant neoplasm of breast PMID 17529967 2007 Genome-wide association study identifies novel breast cancer susceptibility loci.

rs12710696 in LINC01376 gene and Malignant neoplasm of breast PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

PMID 17529967 2007 Genome-wide association study identifies novel breast cancer susceptibility loci.

rs1978503 in LINC01416;LOC107985164 gene and Malignant neoplasm of breast PMID 17903305 2007 A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.

rs537626 in LINC01488 gene and Malignant neoplasm of breast PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

rs1999885 in LINC01527 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs1292011 in LOC105370003 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs1953290 in LOC105370283 gene and Malignant neoplasm of breast PMID 22452962 2012 A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study.

rs2236007 in LOC105370455;PAX9 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs132390 in LOC105372985;EMID1 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs13387042 in LOC105373874;LOC101928278 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 21263130 2011 Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.

PMID 19330030 2009 A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).

PMID 17529974 2007 At present, no genes have been identified in the linkage disequilibrium block containing rs13387042. rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone.

rs865686 in LOC105376214 gene and Malignant neoplasm of breast PMID 21263130 2011 We identified a novel risk locus for breast cancer at 9q31.2 (rs865686: OR = 0.89, 95% CI = 0.85 to 0.92, P = 1.75 × 10(-10)).

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs705464 in LOC105376360 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs6556756 in LOC105377703;LINC02143 gene and Malignant neoplasm of breast PMID 17903305 2007 A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.

rs17530068 in LOC105377871 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 22976474 2012 Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10(-9)), and with both ER-positive (OR = 1.09; P = 1.5 × 10(-5)) and ER-negative (OR = 1.16, P = 2.5 × 10(-7)) disease.

rs6608061 in LOC112268302 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs3817198 in LSP1 gene and Malignant neoplasm of breast PMID 17529967 2007 Genome-wide association study identifies novel breast cancer susceptibility loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs4245739 in MDM4 gene and Malignant neoplasm of breast PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

rs7072776 in MLLT10;LOC107984214 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs10424198 in MRPL34;ABHD8 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs6001930 in MRTFA gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs8112726 in MYO9B gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs773119929 in NBN gene and Malignant neoplasm of breast PMID 14684699 2003 Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.

rs80357438 in NBR2;BRCA1 gene and Malignant neoplasm of breast PMID 14722926 2004 Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

PMID 8776600 1996 Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

PMID 8723683 1996 Mutations in the BRCA1 gene in Japanese breast cancer patients.

PMID 7939630 1994 BRCA1 mutations in primary breast and ovarian carcinomas.

PMID 9760198 1998 A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.

PMID 7894493 1994 Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

PMID 9482581 1998 Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.

PMID 28364669 2017 Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.

PMID 7545954 1994 A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

PMID 23867111 2013 A high-throughput functional complementation assay for classification of BRCA1 missense variants.

PMID 7894491 1994 Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.

PMID 15133502 2004 Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.

PMID 12427738 2003 Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.

PMID 21473589 2011 Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.

PMID 12938098 2003 Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

PMID 18285836 2008 Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

PMID 11114888 2000 Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.

PMID 10323242 1999 Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.

PMID 11301010 2001 BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.

PMID 12442275 2002 BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

rs1357245 in NEK10 gene and Malignant neoplasm of breast PMID 19330027 2009 Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

rs10419742 in NR2F6 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs6737629 in OLA1 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs1057517602 in PALB2 gene and Malignant neoplasm of breast PMID 27106063 2016 Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic.

PMID 24448499 2014 Integrated analysis of germline and somatic variants in ovarian cancer.

PMID 20927582 2011 Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States.

PMID 19584259 2009 PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2.

PMID 19609323 2009 Structural basis for recruitment of BRCA2 by PALB2.

PMID 17200668 2007 PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

PMID 25099575 2014 Breast-cancer risk in families with mutations in PALB2.

PMID 17200671 2007 Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.

PMID 26296701 2015 Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

PMID 26283626 2015 Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

PMID 26641009 2016 Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

PMID 21365267 2011 PALB2 mutations in familial breast and pancreatic cancer.

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

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 24949998 2014 Assessment of PALB2 as a candidate melanoma susceptibility gene.

PMID 24415441 2014 Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.

PMID 21618343 2011 Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

PMID 22241545 2012 Rare germline mutations in PALB2 and breast cancer risk: a population-based study.

PMID 17287723 2007 A recurrent mutation in PALB2 in Finnish cancer families.

PMID 28319063 2017 Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression.

PMID 27648926 2017 Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.

PMID 25575445 2015 Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 19423707 2009 PALB2 regulates recombinational repair through chromatin association and oligomerization.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 16793542 2006 Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.

PMID 21409391 2011 BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.

PMID 24206657 2013 Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.

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

PMID 21285249 2011 Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.

PMID 23448497 2013 Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

PMID 18446436 2009 The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 18302019 2009 Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 20412113 2010 PALB2 mutations in European familial pancreatic cancer families.

PMID 18628482 2008 Penetrance analysis of the PALB2 c.1592delT founder mutation.

PMID 21165770 2011 PALB2 mutations in German and Russian patients with bilateral breast cancer.

PMID 18053174 2007 Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.

PMID 19863560 2009 The contribution of founder mutations to early-onset breast cancer in French-Canadian women.

PMID 21947752 2012 One c.9004G>A carrier also harbored the PALB2 c.2323C>T (Q775X) mutation found to recur in French Canadian breast cancer cases.

PMID 23302520 2013 We also identified a PALB2 p.Q775X carrier who had papillary serous ovarian cystadenocarcinoma at age 58 among the 238 serous subtype ovarian cancer cases investigated, who also had breast cancer at age 52.

PMID 23341105 2013 Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.

PMID 26898890 2016 Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

PMID 19264984 2009 Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.

PMID 26534844 2016 Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

PMID 21182766 2010 Further screening for PALB2 c.3113G > A (W1038X) was conducted for 779 families with multiple cases of breast cancer ascertained through family cancer clinics in Australia and New Zealand and 764 population-based controls.

PMID 23471749 2013 Available data suggests that PALB2 c.3113G>A is a rare mutation with estimated breast cancer risks similar in magnitude to that associated with BRCA2 mutations.

PMID 23934222 2013 Fanconi anemia signaling network regulates the spindle assembly checkpoint.

PMID 20153123 2010 DNA repair alterations in children with pediatric malignancies: novel opportunities to identify patients at risk for high-grade toxicities.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 21184274 2011 PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer.

PMID 24136930 2013 The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 23977390 2013 Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore.

PMID 20852946 2010 PALB2: a novel inactivating mutation in a Italian breast cancer family.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 21932393 2012 Novel germline PALB2 truncating mutations in African American breast cancer patients.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 25428789 2015 Inherited predisposition to breast cancer among African American women.

PMID 25897114 2015 Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes.

PMID 20122277 2010 A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.

PMID 23110154 2012 Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 23824750 2014 Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer.

PMID 28194609 2017 A high frequency of PALB2 mutations in Jamaican patients with breast cancer.

PMID 28779002 2017 Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

PMID 24556926 2014 PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.

PMID 24998779 2014 PALB2: the hub of a network of tumor suppressors involved in DNA damage responses.

PMID 25225577 2014 Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

PMID 25356972 2015 BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 26689913 2015 Patterns and functional implications of rare germline variants across 12 cancer types.

PMID 27631815 2017 Frequency of germline PALB2 mutations among women with epithelial ovarian cancer.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 26757417 2016 Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.

PMID 25794774 2015 Prevalence of PALB2 mutations in the Creighton University Breast Cancer Family Registry.

PMID 29263802 2016 Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.

PMID 25337758 2014 Breast-cancer risk in families with mutations in PALB2.

PMID 26911350 2016 Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.

PMID 28678401 2017 Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.

rs1562430 in PCAT1;CASC8;CASC21;POU5F1B gene and Malignant neoplasm of breast PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 21263130 2011 Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.

rs1353747 in PDE4D gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs616488 in PEX14 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

rs17356907 in PGAM1P5 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs104886003 in PIK3CA gene and Malignant neoplasm of breast PMID 16353168 2006 PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.

rs73016427 in PLVAP gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs11780156 in PVT1 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs121917739 in RAD51 gene and Malignant neoplasm of breast PMID 17508274 2007 Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

PMID 25539919 2015 Tumor-associated mutations in a conserved structural motif alter physical and biochemical properties of human RAD51 recombinase.

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

PMID 24366376 2014 Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.

PMID 24366402 2014 Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

PMID 10807537 2000 Identification of Rad51 alteration in patients with bilateral breast cancer.

PMID 18163131 2008 The emerging landscape of breast cancer susceptibility.

rs2588809 in RAD51B gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 19330030 2009 A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).

rs2284378 in RALY gene and Malignant neoplasm of breast PMID 22976474 2012 SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10(-8)) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10(-6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls.

rs2180341 in RNF146 gene and Malignant neoplasm of breast PMID 18326623 2008 Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.

rs17281496 in SHROOM4 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs6788895 in SIAH2 gene and Malignant neoplasm of breast PMID 22951594 2012 A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese.

rs142899279 in SLC19A1 gene and Malignant neoplasm of breast PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

rs4973768 in SLC4A7 gene and Malignant neoplasm of breast PMID 19330027 2009 Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 21263130 2011 Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.

rs1553628351 in SNHG31;BARD1 gene and Malignant neoplasm of breast PMID 20077502 2010 Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.

PMID 21344236 2012 Cancer predisposing BARD1 mutations in breast-ovarian cancer families.

rs6504950 in STXBP4 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 19330027 2009 Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

rs17313993 in SYNPR gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs9485372 in TAB2 gene and Malignant neoplasm of breast PMID 22383897 2012 This study provides strong evidence for a novel breast cancer susceptibility locus represented by rs9485372, near the TAB2 gene (6q25.1), and identifies two possible susceptibility loci located in the ESR1 gene and 11q24.3, respectively.

rs7904519 in TCF7L2 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs10069690 in TERT gene and Malignant neoplasm of breast PMID 22037553 2011 We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 × 10(-10)).

PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs9790517 in TET2 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs12493607 in TGFBR2 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs17435444 in TNIP3 gene and Malignant neoplasm of breast PMID 23468962 2013 A genome-wide scan for breast cancer risk haplotypes among African American women.

rs909116 in TNNT3 gene and Malignant neoplasm of breast PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

rs12443621 in TOX3 gene and Malignant neoplasm of breast PMID 17529967 2007 Genome-wide association study identifies novel breast cancer susceptibility loci.

rs10415471 in USHBP1 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs8100241 in USHBP1;ANKLE1 gene and Malignant neoplasm of breast PMID 22976474 2012 A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs10402468 in USHBP1;BABAM1 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs4609972 in USHBP1;BABAM1;ANKLE1 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

rs704010 in ZMIZ1 gene and Malignant neoplasm of breast PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs10822013 in ZNF365 gene and Malignant neoplasm of breast PMID 21908515 2011 Our results strongly implicate rs10822013 at 10q21.2 as a genetic risk variant for breast cancer among East-Asian women.

PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.