Modeling Impact of BRCA1 and BRCA2 Mutations in Mammary Epithelial Cells
Annual summary 1 Sep 2011-31 Aug 2012
STATE UNIV OF NY AT RENSSELAER RESEARCH FOUDATION
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Mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 are estimated to account for over 10 of the breast cancer burden in the US. The current standard of care for BRCA1 or BRCA2 mutation carriers is based on limited understanding of the effects of specific mutations, and thus treats all carriers as if they have the same relative risk for development of breast cancer. However, BRCA1 and BRCA2 tumors have very different phenotypes, and several regions within the genes that confer either reduced or enhanced risk for breast cancer have been identified. We proposed to create a model system of BRCA1 and BRCA2 heterozygous cell lines from women opting for prophylactic mastectomy, and have now collected a total of 16 samples. Epithelial cell isolation and immortalization is underway we have one verified BRCA2 heterozygous cell line, two BRCA1 heterozygous cell lines in process, and normal control cell line immortalization is underway. Immediate future experiments will isolate mammary epithelial cells from all samples collected so far. These cell lines will comprise a model system that will be immediately transformative in the field of hereditary breast cancer biology.
- Anatomy and Physiology
- Medicine and Medical Research