SNP information rs11571833

Research and publications:

  8896551   A polymorphic stop codon in BRCA2.

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

  11389159   BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

  12065746   Biallelic inactivation of BRCA2 in Fanconi anemia.

  12097290   Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%.

  12759930   Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

  14559878   Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

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

  15689453   Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.

  15695382   Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.

  15806175   Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer.

  16741161   Variants in the GH-IGF axis confer susceptibility to lung cancer.

  17341484   Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility.

  18451181   Functional assays for classification of BRCA2 variants of uncertain significance.

  18607349   Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

  18974781   Cataloging coding sequence variations in human genome databases.

  20104584   Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

  21279724   Mutations in Fanconi anemia genes and the risk of esophageal cancer.

  21356067   Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

  21520273   Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.

  21990134   A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

  22703879   Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

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

  23535825   Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls.

  23593120   Evaluating genome-wide association study-identified breast cancer risk variants in African-American women.

  24123850   Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

  24348212   BRCA2: one small step for DNA repair, one giant protein purified.

  24359602   Common breast cancer risk variants in the post-COGS era: a comprehensive review.

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

  24771903   Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis.

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

  24941967   Breast cancer risk assessment using genetic variants and risk factors in a Singapore Chinese population.

  25637381   Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  25838448   A rare truncating BRCA2 variant and genetic susceptibility to upper aerodigestive tract cancer.

  26264438   Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis.

  26455428   Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context.

  26510858   Patients with a High Polygenic Risk of Breast Cancer do not have An Increased Risk of Radiotherapy Toxicity.

  26586665   BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.

  27074266   The role of germline alterations in the DNA damage response genes BRIP1 and BRCA2 in melanoma susceptibility.

  27392074   The Relationship between Common Genetic Markers of Breast Cancer Risk and Chemotherapy-Induced Toxicity: A Case-Control Study.

  27424552   Genomics era and complex disorders: Implications of GWAS with special reference to coronary artery disease, type 2 diabetes mellitus, and cancers.

  27432226   Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.

  27632928   Rare variants in BRCA2 and CHEK2 are associated with the risk of urinary tract cancers.

  28152060   Expression Quantitative Trait loci (QTL) in tumor adjacent normal breast tissue and breast tumor tissue.

  28502252   Differential analysis of mutations in the Jewish population and their implications for diseases.

  28591191   Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.

  29346284   Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.

  29382703   Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.

  29458332   Identification of genetic variants for clinical management of familial colorectal tumors.

  29688369   The SNPcurator: literature mining of enriched SNP-disease associations.

  29767749   Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.

  30425093   Rare, Pathogenic Germline Variants in Fanconi Anemia Genes Increase Risk for Squamous Lung Cancer.

  30672594   Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma.

  31428572   Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.

  32039725   Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

  32104210   Inherited lung cancer: a review.

  35101137   Gene-gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer.

  35717579   Rare germline deleterious variants increase susceptibility for lung cancer.