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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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Vydáno v:Breast Cancer Res Treat
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
Témata:
On-line přístup: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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