Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

A. Carvalho, Marcelo; M. Marsillac, Sylvia; Karchin, Rachel; Manoukian, Siranoush; Grist, Scott; F. Swaby, Ramona; P. Ürményi, Turán; Rondinelli, Edson; Silva, Rosane; Gayol, Luis; Baumbach, Lisa; Sutphen, Rebecca; L. Pickard-Brzosowicz, Jennifer; L. Nathanson, Katherine; Šali, Andrej; E. Goldgar, David; J. Couch, Fergus; Radice, Paolo; N.A. Monteiro, Álvaro

doi:10.1158/0008-5472.can-06-3297

Public

Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

Published in Cancer Research • Feb 15, 2007

Authors:

Marcelo A. Carvalho

Sylvia M. Marsillac

Rachel Karchin

Abstract

Germ line inactivating mutations in BRCA1 confer susceptibility for breast and ovarian cancer. However, the relevance of the many missense changes in the gene for which the effect on protein function is unknown remains unclear. Determination of which variants are causally associated with cancer is i...

Subject

Missense mutation

Transactivation

Genetics

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