Article
Multigene testing of moderate-risk genes: be mindful of the missense.
Journal of medical genetics - 1 Jun 2016
Young E L, Feng B J, Stark A W, Damiola F, Durand G, Forey N, Francy T C, Gammon A, Kohlmann W K, Kaphingst K A, McKay-Chopin S, Nguyen-Dumont T, Oliver J, Paquette A M, Pertesi M, Robinot N, Rosenthal J S, Vallee M, Voegele C, Hopper J L, Southey M C, Andrulis I L, John E M, Hashibe M, Gertz J, Le Calvez-Kelm F, Lesueur F, Goldgar D E, Tavtigian S V
Abstract excerpt
BACKGROUND: Moderate-risk genes have not been extensively studied, and missense substitutions in them are generally returned to patients as variants of uncertain significance lacking clearly defined risk estimates. The fraction of early-onset breast cancer cases carrying moderate-risk genotypes and quantitative methods for flagging variants for further analysis have not been established. METHODS: We evaluated...
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