SNP information rs56012641

Research and publications:

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

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

  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.

  15829246   Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1.

  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.

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

  17221156   BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses.

  17279547   Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information.

  18375895   Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.

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

  18415037   Incorporating the amino acid properties to predict the significance of missense mutations.

  18680205   A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

  20737206   A recombination-based method to characterize human BRCA1 missense variants.

  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).

  22713736   Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

  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.

  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.

  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.