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    Hereditary cancers in gynecology: What clinicians need to know

    Identification of women at high risk for hereditary cancer and treatment with risk-reducing measures can be lifesaving



    1.   Hereditary breast and ovarian cancer syndrome. Practice Bulletin No. 182. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2017:130:e110–26.

    2. Ring KL, Garcia C, Thomas MH, Modesitt SC. Current and future role of genetic screening in gynecology. Am J Obstet Gynecol. 2017 Nov;217(5):512-521.

    3. National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 1.2018 Oct 2017. Available at: https://www.nccn.org/professionals/physician_gls/f_guidelines.asp#genetics_screening

    4. SGO Clinical Practice Statement: Genetic testing for Ovarian Cancer. Available at: https://www.sgo.org/clinical-practice/guidelines/genetic-testing-for-ovarian-cancer/

    5. Garcia C, Lyon L, Littell RD, Powell BP. Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations. Genet Med. 2014;12:896-902

    6. Warner E, Messersmith H, Causer P, et al. Systematic review: using magnetic resonance imaging to screen women at high risk for breast cancer. Ann Intern Med. 2008;148:671-9

    7 Kriege M, Brekelmans CT, Boetes C, et al. Magnetic Resonance Imaging Screening Study Group. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med. 2004;351:427-37.

    8. Buys SS, Partridge E, Black A, Et al. Effect of screening on ovarian cancer mortality: The prostate, lung, colorectal and ovarian (PLCO) cancer screening randomized controlled trial. JAMA. 2011;305(22):2295-2303.

    9. Partridge E, Kreimer AR, Grennlee RT, et al. Results from four rounds of ovarian cancer screening in a randomized trial. Obstet Gynecol. 2009;113(4):775-782.

    10. Narod SA, Risch H, Moslehi R, et al. Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med. 1998;339:424-8

    11. Friebel TM, Domcheck SM, Rebbeck TR. Modifiers of Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A systematic review and meta-analysis. J Natl Cancer Inst. 2014;106(6): dju235.

    12.  Narod SA, Dube MP, Klijn J, et al. Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2002;94:1773-9.

    13. Narod SA, Brunet JS, Ghadirian P, et al. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet. 2000;356:1876-81.

    14. King MC, Wieand S, Hale K, et al. Tamoxifen and breast cancer incidence amoung women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSAMP-P1) Breast Cancer Prevention Trial. JAMA. 2001;286:2251-2256.

    15. Rebbeck TR, Friebel T, Lynch HT, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2004;22(6):1055.

    16. Finch AP, Lubinski J, Møller P, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32:1547-53.

    17. Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA.  2010;304:967-75.

    18. Schmeler KM, Lynch HT, Chen LM, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in Lynch syndrome. N Engl J Med. 2006;354(3):261.

    19. Shu CA, Pike MC, Jotwani AR, et al. Uterine cancer after risk-reducing salpingo-oophorectomy without hysterectomy in women with BRCA mutations. JAMA Oncol. 2016;2(11):1434-1440.

    20. Surveillance, Epidemiology, and End Results (SEER), Cancer Stat Fact Sheets. Available from: https://seer.cancer.gov/statfacts/ Accessed Oct 10th 2017

    21. Espenschied CR, LaDuca H, Li S, et al. Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. J Clin Oncol. 20017;35(22): 2568-2575.

    22. National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Colorectal. Version 2.2017 Aug 2017. Available at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf

    Susan C. Modesitt, MD
    DR. MODESITT is an Associate Professor and Chief, Division of Gynecologic Oncology, Obstetrics and Gynecology Department, University of ...
    Christine Garcia, MD
    Dr. Garcia is a Fellow in the Gynecologic Oncology Division, Department of Obstetrics and Gynecology, at the University of Virginia in ...


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