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Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer predisposing gene PALB2

PURPOSE: Breast cancer predisposing mutations PALB2 c.1027C>T (p.Gln343*) and PALB2 c.2167_2168delAT have each been observed multiple times in breast cancer families of Italian ancestry. More recently, the c2167_2168delAT mutation was identified in unrelated breast cancer cases of various ancestr...

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Detalhes bibliográficos
Publicado no:Breast Cancer Res Treat
Main Authors: Catucci, Irene, Casadei, Silvia, Ding, Yuan Chun, Volorio, Sara, Ficarazzi, Filomena, Falanga, Anna, Marchetti, Marina, Tondini, Carlo, Franchi, Michela, Adamson, Aaron, Mandel, Jessica, Walsh, Tom, Olopade, Olufunmilayo I, Manoukian, Siranoush, Radice, Paolo, Ricker, Charite, Weitzel, Jeffrey, King, Mary-Claire, Peterlongo, Paolo, Neuhausen, Susan L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5551669/
https://ncbi.nlm.nih.gov/pubmed/27624329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10549-016-3981-y
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