Variants in the Signaling Protein TSAd are Associated with Susceptibility to Ovarian Cancer in BRCA1/2 Negative High Risk Families
| Autor: | Nancie Petrucelli, Nancy Levin, Adnan R. Munkarah, Michael S. Simon, Ludmila Kaplun, Jennifer L. Barrick, Susan Land, Robert T. Morris, Michael A. Tainsky, Sidra Ahsan, Robin Gold, Wei Chen, Aviva Levine Fridman |
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| Rok vydání: | 2012 |
| Předmět: |
signaling pathway
Pharmacology lcsh:R5-920 education.field_of_study Biochemistry (medical) Population cancer genetics Cancer Single-nucleotide polymorphism Biology Bioinformatics medicine.disease Minor allele frequency ovarian cancer Breast cancer single nucleotide polymorphism familial cancer predisposition medicine Molecular Medicine SNP Allele lcsh:Medicine (General) education Ovarian cancer Original Research |
| Zdroj: | Biomarker Insights, Vol 7 (2012) Biomarker Insights Biomarker Insights, Vol 2012, Iss 7, Pp 151-157 (2012) |
| ISSN: | 1177-2719 |
| DOI: | 10.4137/bmi.s10815 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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