Clinical Management of Hereditary Breast Cancer Syndromes Authors
First Online: 01 March 2011 Received: 01 February 2011 Accepted: 08 February 2011 DOI:
Cite this article as: Clark, A.S. & Domchek, S.M. J Mammary Gland Biol Neoplasia (2011) 16: 17. doi:10.1007/s10911-011-9200-x Abstract
Over the past 15 years there has been substantial improvement in the understanding of hereditary breast cancer. Germline genetic testing for mutations in
BRCA1, BRCA2, PTEN and TP53 allows for the identification of individuals at increased risk for breast, ovarian and other cancers. Advances in screening, prevention and treatment have led to improved clinical management which is best defined for BRCA1 and BRCA2 mutation carriers. The addition of screening techniques such as breast magnetic resonance imaging has been shown to lead to earlier detection. Risk-reducing salpingo-oophorectomy leads to a reduction in the risk of both ovarian cancer and breast cancer and also is associated with an improvement in overall survival. BRCA1/2 mutation status may be applicable to systemic therapy decisions. Preclinical and early clinical research suggests that specific classes of chemotherapy may be more effective in mutation carriers. Finally, PARP inhibitors represent a novel therapeutic strategy that exploits the weaknesses of BRCA1/2-associated malignancies. Keywords BRCA1 BRCA2 Breast cancer Ovarian cancer PARP Oophorectomy Mastectomy Abbreviations CMF
cyclophosphamide, methotrexate and 5FU
hereditary breast and ovarian cancer syndrome
hormone replacement therapy
Li Fraumeni-Like Syndrome
Li Fraumeni Syndrome
magnetic resonance imaging
oral contraceptive pills
objective response rate
pathological complete response
risk reducing bilateral mastectomy
risk reducing salpingo-oophorectomy
selective estrogen receptor modulators
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