Clinical Genetics for the Gynecologist
Family history is a well-recognized risk factor for the development of breast and gynecologic cancer. It is thought that hereditary cases account for 5–10% of all cancers. A number of well-established, highly penetrant syndromes such as Lynch syndrome and hereditary breast and ovarian cancer syndrome account for the vast majority of the hereditary cases. A number of other moderate-risk genes associated with familial syndromes have also been described. The identification of these additional genes has greatly expanded testing options; however, less is known about risk and management for these more recently described genes. This chapter describes the hereditary syndromes associated with breast and gynecologic malignancies and provides risk-reduction recommendations when available. The criteria for genetic testing, methods of genetic testing, and application of results are reviewed.
KeywordsGenetic testing Ovarian cancer Breast cancer Endometrial cancer Hereditary cancer syndromes Multi-gene testing
- 5.Whittemore AS, Gong G, John EM, McGuire V, Li FP, Ostrow KL, et al. Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic whites. Cancer Epidemiol Biomark Prev. 2004;13(12):2078–83.Google Scholar
- 6.Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer 2000 Nov;83(10):1301–8.Google Scholar
- 9.Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117–30.CrossRefGoogle Scholar
- 25.National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2 2016;. Accessed 31 July 2016.Google Scholar