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

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Abstract
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.
Keywords
RECOMMENDATIONS, REDUCTION, BRCA1/BRCA2 mutation carriers, High-risk women, Early detection, Risk-reducing surgery, Surveillance schemes, REDUCING SALPINGO-OOPHORECTOMY, OVARIAN-CANCER RISK, BREAST-CANCER, HEREDITARY BREAST, COST-EFFECTIVENESS, FOLLOW-UP, WOMEN, MAMMOGRAPHY

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Citation

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Chicago
Madorsky-Feldman, Dana, Miri Sklair-Levy, Tamar Perri, Yael Laitman, Shani Paluch-Shimon, Rita Schmutzler, Kerstin Rhiem, et al. 2016. “An International Survey of Surveillance Schemes for Unaffected BRCA1 and BRCA2 Mutation Carriers.” Breast Cancer Research and Treatment 157 (2): 319–327.
APA
Madorsky-Feldman, D., Sklair-Levy, M., Perri, T., Laitman, Y., Paluch-Shimon, S., Schmutzler, R., Rhiem, K., et al. (2016). An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers. BREAST CANCER RESEARCH AND TREATMENT, 157(2), 319–327.
Vancouver
1.
Madorsky-Feldman D, Sklair-Levy M, Perri T, Laitman Y, Paluch-Shimon S, Schmutzler R, et al. An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers. BREAST CANCER RESEARCH AND TREATMENT. 2016;157(2):319–27.
MLA
Madorsky-Feldman, Dana, Miri Sklair-Levy, Tamar Perri, et al. “An International Survey of Surveillance Schemes for Unaffected BRCA1 and BRCA2 Mutation Carriers.” BREAST CANCER RESEARCH AND TREATMENT 157.2 (2016): 319–327. Print.
@article{7901161,
  abstract     = {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.},
  author       = {Madorsky-Feldman, Dana and Sklair-Levy, Miri and Perri, Tamar and Laitman, Yael and Paluch-Shimon, Shani and Schmutzler, Rita and Rhiem, Kerstin and Lester, Jenny and Karlan, Beth Y and Singer, Christian F and Van Maerken, Tom and Claes, Kathleen and Brunet, Joan and Izquierdo, Angel and Teul{\'e}, Alex and Lee, Jong Won and Kim, Sung-Won and Arun, Banu and Jakubowska, Anna and Lubinski, Jan and Tucker, Katherine and Poplawski, Nicola K and Varesco, Liliana and Bonelli, Luigina Ada and Buys, Saundra S and Mitchell, Gillian and Tischkowitz, Marc and Gerdes, Anne-Marie and Seynaeve, Caroline and Robson, Mark and Kwong, Ava and Tung, Nadine and Tessa, Nalven and Domchek, Susan M and Godwin, Andrew K and Rantala, Johanna and Arver, Brita and Friedman, Eitan},
  issn         = {0167-6806},
  journal      = {BREAST CANCER RESEARCH AND TREATMENT},
  language     = {eng},
  number       = {2},
  pages        = {319--327},
  title        = {An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers},
  url          = {http://dx.doi.org/10.1007/s10549-016-3805-0},
  volume       = {157},
  year         = {2016},
}

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