An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

Dana Madorsky-Feldman, Miri Sklair-Levy, Tamar Perri, Yael Laitman, Shani Paluch-Shimon, Rita Schmutzler, Kerstin Rhiem, Jenny Lester, Beth Y Karlan, Christian F Singer, Tom Van Maerken, Kathleen Claes, Joan Brunet, Angel Izquierdo, Alex Teulé, Jong Won Lee, Sung-Won Kim, Banu Arun, Anna Jakubowska, Jan LubinskiKatherine Tucker, Nicola K Poplawski, Liliana Varesco, Luigina Ada Bonelli, Saundra S Buys, Gillian Mitchell, Marc Tischkowitz, Anne-Marie Gerdes, Caroline Seynaeve, Mark Robson, Ava Kwong, Nadine Tung, Nalven Tessa, Susan M Domchek, Andrew K Godwin, Johanna Rantala, Brita Arver, Eitan Friedman

22 Citationer (Scopus)


Female BRCA1/BRCA2 mutation carriers are at substantially increased risk for developing breast and/or ovarian cancer, and are offered enhanced surveillance including screening from a young age and risk-reducing surgery (RRS)-mastectomy (RRM) and/or salpingo-oophorectomy (RRSO). While there are established guidelines for early detection of breast cancer in high-risk women who have not undergone RRM, there are less developed guidelines after RRM. We evaluated the schemes offered before and after RRS in internationally diverse high-risk clinics. An e-mailed survey was distributed to high-risk clinics affiliated with CIMBA. Overall, 22 centers from 16 countries responded. Pre RRS surveillance schemes overwhelmingly included breast imaging (primarily MRI) from 18 to 30 years and clinical breast exam (CBE) at 6-12 month intervals. For ovarian cancer, all but 6 centers offered semiannual/annual gynecological exam, transvaginal ultrasound, and CA 125 measurements. Post RRM, most centers offered only annual CBE while 4 centers offered annual MRI, primarily for substantial residual breast tissue. After RRSO only 4 centers offered specific gynecological surveillance. Existing guidelines for breast/ovarian cancer detection in BRCA carriers are being applied pre RRS but are not globally harmonized, and most centers offer no specific surveillance post RRS. From this comprehensive multinational study it is clear that evidence-based, long-term prospective data on the most effective scheme for BRCA carriers post RRS is needed.

TidsskriftBreast Cancer Research and Treatment
Udgave nummer2
Sider (fra-til)319-27
Antal sider9
StatusUdgivet - jun. 2016


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