Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

ABSTRACT: Unclassified sequence variants (UVs) arising from clinical mutation screening of cancer susceptibility genes present a frustrating issue to clinical genetics services and the patients that they serve. We created an open-access database holding missense substitutions from the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2. The main inclusion criterion is that each variant should have been assessed in a published work that used the Bayesian integrated evaluation of unclassified BRCA gene variants. Transfer of data on these substitutions from the original publications to our database afforded an opportunity to analyze the missense substitutions under a single model and to remove inconsistencies that arose during the evolution of the integrated evaluation over the last decade.

SUBMITTER: Vallee MP 

PROVIDER: S-EPMC3478957 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature