BRCA1 and Breast Cancer Madeline Ryan 3/17/2015

The BRCA1 gene product is involved in homologous recombination

Homologous recombination is a repair mechanism for dsDNA breaks

BRCA1 pairs with Rad51 during the strand invasion step of HR

Mouse models and immunofluorescent microscopy helped us understand BRCA1 function

BRCA1 is a tumor suppressor Talk about loss of heterozygosity It must undergo loss of heterozygosity (LOH)

Why breast cancer?

PARP inhibitors are in ongoing clinical trials for treatment of BRCA gene positive patients

~8% of women will develop breast cancer 55-65% of women with an inherited BRCA1 mutation will develop breast cancer 5-10% of breast cancers in the U.S. are linked to an inherited mutation Women with the BRCA1 mutation tend to have triple-negative breast cancer

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Photo References http://www.multivu.com/players/English/7373551-us-fda-approves-first-in-class-lynparza-olaparib-treatment-women-brca-mutated-advanced-ovarian-cancer/ http://www.rxlist.com/lynparza-drug.htm http://www.onclive.com/publications/Oncology-live/2012/July-2012/The-PARP-Inhibitors-Down-But-Not-Out https://bioofcancer.wordpress.com http://sherryimm.blogspot.com http://ghr.nlm.nih.gov/gene/BRCA1 http://www.prweb.com/releases/2013/2/prweb10445267.htm http://www.nationalbreastcancer.org/triple-negative-breast-cancer http://www.uh.edu/news-events/tip-sheets/2014/10314BreastCancer.php