SNP information rs11571746

Research and publications:

  10717622   Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases.

  10923033   The breast cancer information core: database design, structure, and scope.

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

  12491487   Breast cancer genetics in African Americans.

  16284991   BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.

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

  18284688   Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

  18414213   ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

  19043619   Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

  19619314   A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.

  19799798   Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

  21120943   EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

  22034289   High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.

  22425665   BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.

  22505045   Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

  22684231   BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

  23683081   Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).

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

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

  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.