SNP information rs4987047

Research and publications:

  9771877   Total energy expenditure and physical activity in prepubertal children: recent advances based on the application of the doubly labeled water method.

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

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

  15533909   BRCA1 and BRCA2 mutations in a study of African American breast cancer patients.

  15635067   Prevalence of BRCA2 mutations in a hospital based series of unselected breast cancer cases.

  15744044   Complete allelic analysis of BRCA1 and BRCA2 variants in young Nigerian breast cancer patients.

  16683254   A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

  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.

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

  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.

  22678057   Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

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

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

  22995991   An informatics approach to analyzing the incidentalome.

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

  23320992   Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics.

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

  23633455   Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.

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

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

  24884479   Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

  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.

  29879995   Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.