SNP information rs1799967

Research and publications:

  10408690   BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer.

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

  12215251   Characterization of common BRCA1 and BRCA2 variants.

  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.

  14534301   Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.

  15235020   Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

  16014699   Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

  17018160   Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.

  17308087   Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

  18662409   Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals.

  20516115   Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

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

  21990134   A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

  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.

  22703870   A biomechanical comparison of repair techniques for complete gluteus medius tears.

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

  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.

  29458332   Identification of genetic variants for clinical management of familial colorectal tumors.

  29504908   Exome analysis of carotid body tumor.

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

  32039725   Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.