%0 Journal Article
%T Variants in the Signaling Protein TSAd are Associated with Susceptibility to Ovarian Cancer in BRCA1/2 Negative High Risk Families
%A Ludmila Kaplun
%A Aviva Levine Fridman
%A Wei Chen
%A Nancy K. Levin
%A Sidra Ahsan
%A Nancie Petrucelli
%A Jennifer L. Barrick
%A Robin Gold
%A Susan Land
%A Michael S. Simon
%A Robert T. Morris
%A Adnan R. Munkarah and Michael A. Tainsky
%J Biomarker Insights
%D 2012
%I 
%R 10.4137/BMI.S10815
%X A substantial fraction of familial ovarian cancer cases cannot be attributed to specific genetic factors. The discovery of additional susceptibility genes will permit a more accurate assessment of hereditary cancer risk and allow for monitoring of predisposed women in order to intervene at the earliest possible stage. We focused on a population with elevated familial breast and ovarian cancer risk. In this study, we identified a SNP rs926103 whose minor allele is associated with predisposition to ovarian but not breast cancer in a Caucasian high-risk population without BRCA1/BRCA2 mutations. We have found that the allelic variation of rs926103, which alters amino acid 52 of the encoded protein SH2D2A/TSAd, results in differences in the activity of this protein involved in multiple signal transduction pathways, including regulation of immune response, tumor vascularization, cell growth, and differentiation. Our observation provides a novel candidate genetic biomarker of elevated ovarian cancer risk in members of high-risk families without BRCA1/2 mutations, as well as a potential therapeutic target, TSAd.
%U http://www.la-press.com/variants-in-the-signaling-protein-tsad-are-associated-with-susceptibil-article-a3454