Multigene testing of moderate-risk genes: be mindful of the missense

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...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2016
Assuntos:
Cancer Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4893078/
https://ncbi.nlm.nih.gov/pubmed/26787654
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103398
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