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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893078/
https://www.ncbi.nlm.nih.gov/pubmed/26787654
http://dx.doi.org/10.1136/jmedgenet-2015-103398