SNP information rs16941

Research and publications:

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

  12188064   Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients.

  12872265   BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy.

  12955716   Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

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

  18830263   Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma

  18974781   Cataloging coding sequence variations in human genome databases.

  19644020   Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.

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

  20352487   Mutations and polymorphic BRCA variants transmission in breast cancer familial members.

  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.

  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.

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

  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.

  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.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  24599715   Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma.

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

  24986639   First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer.

  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.

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

  27698805   Genetic landscape of a case of extraovarian peritoneal serous papillary carcinoma.

  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.

  31203256   Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.

  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.