SNP information rs28897708

Research and publications:

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

  11929857   Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations.

  12474142   Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene.

  15955690   A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients.

  15983021   Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women.

  16760289   BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models.

  16826315   BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.

  16847550   Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.

  18559594   BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.

  19471317   Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

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

  20127978   Genetic diagnosis of familial breast cancer using clonal sequencing.

  20694749   Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer.

  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.

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

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

  21952622   BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.

  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.

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

  23231788   Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling.

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

  24055113   Actionable, pathogenic incidental findings in the exomes of 1000 participants.

  24082139   Personalized genomic disease risk of volunteers.

  24489791   Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

  24916970   The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

  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.