Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

PALB2 is an established breast cancer risk gene but the pathogenicity of many variants remains uncharacterised. Here, the authors present a cDNA-based system for the functional analysis of PALB2 variants of unknown significance.

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Detalles Bibliográficos
Autores principales: Rick A. C. M. Boonen, Amélie Rodrigue, Chantal Stoepker, Wouter W. Wiegant, Bas Vroling, Milan Sharma, Magdalena B. Rother, Nandi Celosse, Maaike P. G. Vreeswijk, Fergus Couch, Jacques Simard, Peter Devilee, Jean-Yves Masson, Haico van Attikum
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
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Acceso en línea:https://doaj.org/article/1494cb25245145e3baee045ab9de1c81
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Sumario:PALB2 is an established breast cancer risk gene but the pathogenicity of many variants remains uncharacterised. Here, the authors present a cDNA-based system for the functional analysis of PALB2 variants of unknown significance.