SNP information rs11571707

Research and publications:

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

  14559878   Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

  15317758   Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort.

  15689453   Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.

  16030099   Prevalence of BRCA mutations and founder effect in high-risk Hispanic families.

  16949048   Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC.

  17100994   Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.

  17724471   Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma.

  17899372   Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

  18286383   Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba.

  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.

  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.

  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.

  21719596   A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

  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.

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

  24323938   Functional assays for analysis of variants of uncertain significance in BRCA2.

  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.

  33499154   Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon.