SNP information rs4987117

Research and publications:

  10453741   Two novel mutations in a cystic fibrosis patient of Chinese origin.

  10699917   Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure.

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

  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.

  17289875   Germline mutations in the BRCA2 gene and susceptibility to hereditary prostate cancer.

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

  17591940   A comparative study of five technologically diverse CFTR testing platforms.

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

  19030985   Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk.

  20010525   Association between polymorphisms of the BRCA2 gene and clinical parameters in breast cancer.

  21203900   Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.

  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.

  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.

  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.

  30611917   Targeted sequencing to discover germline variants in the BRCA1 and BRCA2 genes in a Russian population and their association with breast cancer risk.

  33126731   Genomic Diversity in Sporadic Breast Cancer in a Latin American Population.