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Breast Cancer Res Treat. 2016 Jun;157(2):319-327. doi: 10.1007/s10549-016-3805-0. Epub 2016 Apr 27.

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

Author information

1
The High Risk Clinic, Meirav Center, Sheba Medical Center, Tel Hashomer, Israel.
2
The Oncology Institute, Sheba Medical Center, Tel Hashomer, Israel.
3
Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University Hospital Cologne, Cologne, Germany.
4
Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
5
Department of Obstetrics and Gynecology, Medical University of Vienna, General Hospital, Vienna, Austria.
6
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
7
Hereditary Cancer Program, Catalan Institute of Oncology Cancer Network, Barcelona, Spain.
8
Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
9
Department of Surgery, Daerim Saint Mary's Hospital, Seoul, South Korea.
10
Breast Medical Oncology and Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
11
Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Poland.
12
Hereditary Cancer Service Prince of Wales Hospital, Sydney, Australia.
13
Adult Genetics Unit, South Australian Clinical Genetics Service SA Pathology at the Women's and Children's Hospital Site, North Adelaide, Australia.
14
University Department of Pediatrics, University of Adelaide, Adelaide, Australia.
15
UOS Centro Tumori Ereditari IRCCS San Martino, Genoa, Italy.
16
UOC Epidemiologia Clinica IRCCS San Martino, Genoa, Italy.
17
Department of Medicine, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.
18
Hereditary Cancer Program at the BC Cancer Agency, Vancouver, BC, Canada.
19
Department of Medical Genetics, University of Cambridge Addenbrooke's Hospital, Cambridge, UK.
20
Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
21
Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
22
Memorial Sloan Kettering Cancer Center (MSKCC), New York, NY, USA.
23
Hong Kong Hereditary Breast Cancer Family Registry, and Department of Breast Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong.
24
BIDMC- Hematology Oncology, Boston, MA, USA.
25
Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA, USA.
26
University of Kansas Medical Center, Kansas City, KS, USA.
27
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
28
Department of Oncology, Karolinska University Hospital, Stockholm, Sweden.
29
The High Risk Clinic, Meirav Center, Sheba Medical Center, Tel Hashomer, Israel. feitan@post.tau.ac.il.
30
The Susanne Levy Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, 52621, Tel Hashomer, Israel. feitan@post.tau.ac.il.
31
The Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. feitan@post.tau.ac.il.

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:

BRCA1/BRCA2 mutation carriers; Early detection; High-risk women; Risk-reducing surgery; Surveillance schemes

PMID:
27117159
PMCID:
PMC5508745
DOI:
10.1007/s10549-016-3805-0
[Indexed for MEDLINE]
Free PMC Article

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