SNP information rs1800709

Research and publications:

  8776600   Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

  8968716   BRCA1 R841W: a strong candidate for a common mutation with moderate phenotype.

  9333265   BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.

  9585599   Missense mutations in disease genes: a Bayesian approach to evaluate causality.

  12070551   BRCA1 and BRCA2 mutations in breast cancer patients from Saudi Arabia.

  12531920   Understanding missense mutations in the BRCA1 gene: an evolutionary approach.

  12900794   A full-likelihood method for the evaluation of causality of sequence variants from family data.

  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.

  15290653   Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

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

  15800311   Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation.

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

  16267036   Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

  16489001   Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

  16518693   Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans.

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

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

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

  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.

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

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

  22753008   A guide for functional analysis of BRCA1 variants of uncertain significance.

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

  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.

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

  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.

  27495310   Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.