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  • Breast cancer breakthroughs

    71085840Q: For twenty years you hammered out the problem of gene-specific causation and were finally able to identify genes associated with breast cancer, BRCA1 and then BRCA2. How are these discoveries affecting breast cancer research?

    DR. KING: I think the discoveries have had two different effects. First and most obviously they have an enormous, direct, clinical, and practical impact on women who carry these mutations. I think there’s no controversy now that BRCA1 and BRCA2 are the major breast cancer genes. Both BRCA1 and BRCA2 have a vast number of different protein-truncating mutations that abrogate their normal functions. But there still remains a great deal of controversy about just what risks for breast cancer and for ovarian cancer are associated with mutations in these genes.

    I’ve been involved for a few years in a collaborative project, the New York Breast Cancer Study, which demonstrates that mutations in both genes are associated with a very high risk for breast cancer. The risk for ovarian cancer with BRCA1 mutations is very high as well. What women should do about this of course is highly individual; it’s a very difficult question.

    I’ve also been working with the NSABP [National Surgical Adjuvant Breast and Bowel Project] to address the question of whether tamoxifen reduces the risk of first-time breast cancer among women with inherited mutations of BRCA1 or BRCA2. There’s no question that tamoxifen reduces recurrence of breast cancer among women with estrogen-receptor-positive breast cancer.

    The question of interest to us is whether it will reduce inherited breast cancers. We have undertaken the largest re-sequencing project that has yet been done for a clinical purpose, looking into the tamoxifen prevention trial in order to address that question. We’re writing those results for publication now. They are interesting with respect to the potential use of tamoxifen to reduce the risk for the first occurrence of breast cancer among women with inherited mutations.

    Published on September 5, 2012 · Filed under: Press Release, Technology; Tagged as: , , , ,
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