SNP information rs1799950

Research and publications:

  9063749   Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population.

  10196379   Germline BRCA1 alterations in a population-based series of ovarian cancer cases.

  11400546   BRCA1/2 mutations in Swiss patients with familial or early-onset breast and ovarian cancer.

  14555511   Polymorphisms in BRCA1 and BRCA2 and risk of epithelial ovarian cancer.

  15235020   Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

  15743496   Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.

  16014699   Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

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

  17428325   Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.

  17585057   Common variation in the BRCA1 gene and prostate cancer risk.

  18701471   Chromosome 17q12 variants contribute to risk of early-onset prostate cancer.

  19661094   Missense polymorphisms in BRCA1 and BRCA2 and risk of breast and ovarian cancer.

  20039378   Estimation of genotype relative risks from pedigree data by retrospective likelihoods.

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

  20807450   Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age.

  21161372   Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.

  21232165   The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

  21514219   Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence

  21702907   A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

  21708019   Association of Rad51 polymorphism with DNA repair in BRCA1 mutation carriers and sporadic breast cancer risk.

  21766209   Genetic predictors of taxane-induced neurotoxicity in a SWOG phase III intergroup adjuvant breast cancer treatment trial (S0221).

  21890493   Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

  21959049   Association between single nucleotide polymorphisms on chromosome 17q and the risk of prostate cancer in a Chinese population.

  21965345   Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.

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

  22136207   Association of BRCA1 functional single nucleotide polymorphisms with risk of differentiated thyroid carcinoma.

  22144497   Assessing the clinical role of genetic markers of early-onset prostate cancer among high-risk men enrolled in prostate cancer early detection.

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

  23192404   Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer.

  23249957   Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.

  23469205   Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

  23961350   BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.

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

  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.

  26012346   Effect of genetic ancestry on leukocyte global DNA methylation in cancer patients.

  26926928   Common variation in BRCA1 may have a role in progression to lethal prostate cancer after radiation treatment.

  27478808   Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.

  29298688   Enhanced response rate to pegylated liposomal doxorubicin in high grade serous ovarian carcinomas harbouring BRCA1 and BRCA2 aberrations.

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

  29492227   The association between BRCA1 gene polymorphism and cancer risk: a meta-analysis.

  30712190   Polymorphism of DNA Repair Genes via Homologous Recombination (HR) in Ovarian 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.

  32100578   Next generation sequencing of BRCA genes in glioblastoma multiform Egyptian patients: a pilot study.

  33126731   Genomic Diversity in Sporadic Breast Cancer in a Latin American Population.