Network News - Winter/Spring 2010 - Canadian Breast Cancer ...

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Defining BRCA Genes By Kelly Metcalfe, RN, PhD In 1994 and 1995 respectively, the BRCA1 and BRCA2 genes were discovered. For women who carry a mutation in one of these genes, the risk of developing breast cancer is estimated to be up to 87% by the age of 70 1 . Women with a BRCA1 or BRCA2 mutation have one of the highest known risks for the development of breast cancer. However, with this genetic information, women are in a position to be able to reduce their breast cancer risk by using breast cancer risk prevention strategies. Therefore, the value of genetic testing for BRCA1 and BRCA2 mutations is that high-risk women can be identified, and ultimately fewer women will be diagnosed with breast cancer and die of the disease. However, this is all dependent on whether or not a woman elects for a breast cancer prevention option. The current cancer reduction options available to women with a BRCA1 or BRCA2 mutation are chemoprevention (including Tamoxifen) 2 3 , or prophylactic surgery (mastectomy and oophorectomy) 4 5 . None of these options offer women a 100% breast cancer risk reduction, and each preventive option has risks and benefits, both medical and psychological. These circumstances cause the decision-making process to be difficult for women regarding breast cancer prevention. A prophylactic mastectomy involves the removal of both breasts in the absence of disease. The goal of prophylactic mastectomy is to prevent breast cancer, with its potential for metastatic spread and potential to cause death. Studies by Hartmann et al. suggested that prophylactic mastectomy offers a reduction in risk of breast cancer of 80% or more in women with a family history of breast cancer 6 , and greater than an 89% risk reduction in women with a known BRCA1 or BRCA2 mutation 4 . Meijers-Heijboer et al. also found that there was a significant risk reduction of breast cancer associated with prophylactic mastectomy when compared to women undergoing breast screening 5 . Research suggests that satisfaction with the decision to have prophylactic mastectomy is high 7 8 , and that psychosocial functioning is not compromised 7 9 . In addition to an increased risk of breast cancer, women with a BRCA1 or BRCA2 mutation also have an increased risk of developing ovarian cancer. The preventive removal of the ovaries and fallopian tubes (prophylactic oophorectomy) can provide significant reductions in risk of both breast and ovarian cancers in women with a BRCA1 or BRCA2 mutation. Estimates of the effectiveness of prophylactic oophorectomy in preventing ovarian cancer have varied widely from 60% to 95% 10-12 . Prophylactic oophorectomy has also been shown to reduce the risk of breast cancer in women with a BRCA1 or BRCA2 mutation. The greatest risk reduction is observed if a woman has a prophylactic oophorectomy prior to the age of 40 (50% breast cancer risk reduction) 13 . After the age of 50, no benefit in breast cancer risk reduction is observed. Overall, prophylactic oophorectomy is effective at reducing the risk of both breast and ovarian cancers in women with a BRCA1 or BRCA2 mutation. However, there are important side-effects (eg. hot flashes, vaginal dryness, decreased libido) associated with this surgery, as a woman is placed into immediate menopause. Tamoxifen is a medication that is taken to reduce the risk of developing breast cancer. It is a selective estrogen receptor modulator (SERM) that competes with estrogen for binding to the estrogen receptor. In humans, Dr. Kelly Metcalfe Tamoxifen acts as an estrogen antagonist in breast tissue, inhibiting the growth of estrogen-dependent breast tumors 14 . Among high-risk women, a 49% risk reduction of invasive breast cancer risk has been associated with Tamoxifen 15 . Tamoxifen usage has been shown to reduce the risk of invasive breast cancer by 62% in healthy BRCA2 carriers 2 . In addition, Tamoxifen has been shown to be effective at preventing contralateral breast cancer (breast cancer in the opposite breast) in both BRCA1 and BRCA2 mutation carriers with breast cancer 3 16 . In the National Surgical Adjuvant Breast and Bowel Project (NSABP) P-1 Study 15 , which examined breast cancer risk reduction associated with Tamoxifen use in high-risk women, there were medical side-effects associated with Tamoxifen including endometrial cancer, vascular events, and cataracts. Making decisions about breast cancer prevention are difficult for women. Each option that is available to them has benefits and risks (both medical and psychological). No choice will satisfy every one of an individual’s personal objectives and no alternative is without its risk of undesirable outcomes. To try to help women with these difficult decisions, we have recently developed a decision aid for breast cancer prevention in women with a BRCA1 or BRCA2 mutation. The decision aid was developed to provide decision support to women with a BRCA1 or BRCA2 mutation regarding breast cancer prevention. We are currently testing the decision aid to determine if it is helpful for women who have recently learned that they 6 Network News Winter/Spring 2010
carry a BRCA mutation. If you would like to participate in the study, please contact Julie Weston at Julie.weston@ utoronto.ca for more information. Fortunately, there are breast cancer risk reduction options available to women with a BRCA1 or BRCA2 mutation. Women who are identified as having a BRCA1 or BRCA2 mutation are in a unique position in that they can reduce or eliminate their risk of developing breast cancer in the future. Although the decision about which preventive option to choose may be difficult for women, there are tools available to help. Ultimately, every woman with a BRCA1 or BRCA2 mutation can reduce their risk of developing breast cancer and feel satisfied with her decision. • References 1. Ford D, Easton, D.F., Bishop, D.T., Narod, S.A., Goldgar, D.A. Risks of cancer in BRCA1 mutation carriers. Lancet 1994;343(8899): 692-695. 2. King MC, Wieand S, Hale K, Lee M, Walsh T, Owens K, et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. Jama 2001;286(18):2251- 6. 3. Narod SA, Brunet JS, Ghadirian P, Robson M, Heimdal K, Neuhausen SL, 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(9245):1876-81. 4. Hartmann LC, Sellers TA, Schaid DJ, Frank TS, Soderberg CL, Sitta DL, et al. Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 2001;93(21):1633-7. 5. Meijers-Heijboer M, VanGeel B, VanPutten W, Henzen-Logmans S, Seynaeve C, Menke-Pluymers M, et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. The New England Journal of Medicine 2001;345(3):158-164. 6. Hartmann LC, Schaid DJ, Woods JE, Crotty TP, Myers JL, Arnold PG, et al. Efficacy of Bilateral Prophylactic Mastectomy in Women with a Family History of Breast Cancer. The New England Journal of Medicine 1999;340(2):77-85. 7. Metcalfe KA, Esplen MJ, Goel V, Narod S. Psychosocial functioning in women who have undergone bilateral prophylactic mastectomy. Psychooncology 2004;13:14-25. 8. Frost MH, Schaid DJ, Sellers TA, Slezak JM, Arnold PG, Woods JE, et al. Long-term satisfaction and psychological and social function following bilateral prophylactic mastectomy. Jama 2000;284(3):319-24. 9. Hatcher MB, Fallowfield L, A’Hern R. The psychosocial impact of bilateral prophylactic mastectomy: prospective study using questionnaires and semistructured interviews. Bmj 2001;322(7278):76. 10. Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van’t Veer L, Garber JE, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002;346(21):1616-22. 11. Olivier RI, van Beurden M, Lubsen MA, Rookus MA, Mooij TM, van de Vijver MJ, et al. Clinical outcome of prophylactic oophorectomy in BRCA1/BRCA2 mutation carriers and events during follow-up. Br J Cancer 2004;90(8):1492-7. 12. Rutter JL, Wacholder S, Chetrit A, Lubin F, Menczer J, Ebbers S, et al. Gynecologic surgeries and risk of ovarian cancer in women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study. J Natl Cancer Inst 2003;95(14):1072-8. 13. Eisen A, Lubinski J, Klijn J, Moller P, Lynch HT, Offit K, et al. Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol 2005;23(30):7491-6. 14. Pritchard KI. Breast cancer prevention with selective estrogen receptor modulators: a perspective. Ann N Y Acad Sci 2001;949:89-98. 15. Fisher B, Costantino JP, Wickerham DL, Redmond CK, Kavanah M, Cronin WM, et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 study. Journal of the National Cancer Insitute 1998;90(18):1371-1388. 16. Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E, et al. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2004;22(12):2328-35. Dr. Kelly Metcalfe is an Associate Professor at the Faculty of Nursing, University of Toronto. As an Adjunct Scientist she is part of the team of investigators at the Familial Breast Cancer Research Unit of WCRI including Director, Steven Narod, and Scientist Joanne Kotsopoulos. Dr. Metcalfe holds a New Investigator Award from the Canadian Institutes of Health Research and has received the Excellence in Cancer Prevention and Early Detection Award from the Oncology Nursing Society. Dr. Metcalfe serves on the research advisory committee for the Canadian Association of Psychosocial Oncology. Dr. Metcalfe’s current research focuses on the prevention and treatment of hereditary breast cancer. She has published extensively on the psychosocial implications of cancer preventive options including prophylactic mastectomy and oophorectomy. She is currently the principal investigator on a study aiming to develop a decision aid for breast cancer prevention in BRCA1 and BRCA2 mutation carriers. Dr. Metcalfe is also the principal investigator on a study of Familial Cancer in Jewish Women, currently ongoing at the Women’s College Research Institute. Board of Directors Cathy Ammendolea, President, Quebec Alwyn Anderson, Alberta Nina Burford, Labrador, Member-at-Large Linda Dias, Greater Toronto Area (GTA) Diana Ermel, Past President, Saskatchewan Dianne Hartling, Treasurer, Ottawa-Gatineau Suzanne LeBlanc, New Brunswick Lorna Marshall, British Columbia Meeka Mearns, Nunavut Dianne Moore, Ontario Janis Murray, Secretary, British Columbia Pam Patten, Northwest Territories Mercedes Sellars, Newfoundland Pam Smith, Prince Edward Island Diane Spencer, Vice-President, Nova Scotia Sharon Young, Manitoba Network News Winter/Spring 2010 7
Page 1 and 2: Canadian Breast Cancer Network Wint
Page 3 and 4: e part of a remarkable Board of Dir
Page 5: CBCN Board Members, staff and parti
Page 9 and 10: January 2009 and after several scan
Page 11 and 12: What is BRCA? By Dawna M. Gilchrist
Page 13 and 14: 5. Where possible, and if patient/f
Page 15 and 16: Hormone Therapy After Risk Reducing
Page 17 and 18: Knowledge is Power Interview with J
Page 19 and 20: Informing Women of the Risks and Be
Page 21 and 22: Susan Armel is the senior genetic c
Page 23 and 24: BRCA1/2 Testing: Navigating Through
Page 25 and 26: having surgery but is not currently
Page 27 and 28: the risk of hereditary cancer. A ri
Page 29 and 30: At present, we are recruiting women
Page 31 and 32: Familial Breast Cancer and No BRCA1
Page 33 and 34: ‘E’ is for Empowered - Are You
Page 35 and 36: Continued from Page 30 Top 10 Thing

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