Article
Classification of BRCA1 missense variants of unknown clinical significance.
Journal of medical genetics - 1 Feb 2005
Phelan C M, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt R B, van Nesselrooij B P M, Chenevix-Trench G, kConFab, Caldes T, de la Hoya M, Lindquist S, Tavtigian S V, Goldgar D, Borg A, Narod S A, Monteiro A N A
Abstract excerpt
BACKGROUND: BRCA1 is a tumour suppressor with pleiotropic actions. Germline mutations in BRCA1 are responsible for a large proportion of breast-ovarian cancer families. Several missense variants have been identified throughout the gene but because of lack of information about their impact on the function of BRCA1, predictive testing is not always informative. Classification of missense variants into...
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