BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

The functional consequences of missense variants in disease genes are difficult to predict. We assessed if gene expression profiles could distinguish between BRCA1 or BRCA2 pathogenic truncating and missense mutation carriers and familial breast cancer cases whose disease was not attributable to BRC...

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Autores principales:	Nic Waddell, Anette Ten Haaf, Anna Marsh, Julie Johnson, Logan C Walker, kConfab Investigators, Milena Gongora, Melissa Brown, Piyush Grover, Mark Girolami, Sean Grimmond, Georgia Chenevix-Trench, Amanda B Spurdle
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Public Library of Science (PLoS) 2008-05-01
Colección:	PLoS Genetics
Acceso en línea:	http://europepmc.org/articles/PMC2375115?pdf=render
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