An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers.
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.
The High Risk Clinic, Meirav Center, Sheba Medical Center, Tel Hashomer, Israel.
Dana
D
Madorsky-Feldman
The High Risk Clinic, Meirav Center, Sheba Medical Center, Tel Hashomer, Israel.
Miri
M
Sklair-Levy
The High Risk Clinic, Meirav Center, Sheba Medical Center, Tel Hashomer, Israel.
Tamar
T
Perri
The High Risk Clinic, Meirav Center, Sheba Medical Center, Tel Hashomer, Israel.
Yael
Y
Laitman
The Oncology Institute, Sheba Medical Center, Tel Hashomer, Israel.
Shani
S
Paluch-Shimon
Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University Hospital Cologne, Cologne, Germany.
Rita
R
Schmutzler
Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University Hospital Cologne, Cologne, Germany.
Kerstin
K
Rhiem
Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Jenny
J
Lester
Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Beth Y
BY
Karlan
Department of Obstetrics and Gynecology, Medical University of Vienna, General Hospital, Vienna, Austria.
Christian F
CF
Singer
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Tom
T
Van Maerken
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Kathleen
K
Claes
Hereditary Cancer Program, Catalan Institute of Oncology Cancer Network, Barcelona, Spain.
Joan
J
Brunet
Hereditary Cancer Program, Catalan Institute of Oncology Cancer Network, Barcelona, Spain.
Angel
A
Izquierdo
Hereditary Cancer Program, Catalan Institute of Oncology Cancer Network, Barcelona, Spain.
Alex
A
Teulé
Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
Jong Won
JW
Lee
Department of Surgery, Daerim Saint Mary's Hospital, Seoul, South Korea.
Sung-Won
SW
Kim
Breast Medical Oncology and Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Banu
B
Arun
Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Poland.
Anna
A
Jakubowska
Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Poland.
Jan
J
Lubinski
Hereditary Cancer Service Prince of Wales Hospital, Sydney, Australia.
Katherine
K
Tucker
Adult Genetics Unit, South Australian Clinical Genetics Service SA Pathology at the Women's and Children's Hospital Site, North Adelaide, Australia.|University Department of Pediatrics, University of Adelaide, Adelaide, Australia.
Nicola K
NK
Poplawski
UOS Centro Tumori Ereditari IRCCS San Martino, Genoa, Italy.
Liliana
L
Varesco
UOC Epidemiologia Clinica IRCCS San Martino, Genoa, Italy.
Luigina Ada
LA
Bonelli
Department of Medicine, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.
Saundra S
SS
Buys
Hereditary Cancer Program at the BC Cancer Agency, Vancouver, BC, Canada.
Gillian
G
Mitchell
Department of Medical Genetics, University of Cambridge Addenbrooke's Hospital, Cambridge, UK.
Marc
M
Tischkowitz
Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Anne-Marie
AM
Gerdes
Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Caroline
C
Seynaeve
Memorial Sloan Kettering Cancer Center (MSKCC), New York, NY, USA.
Mark
M
Robson
Hong Kong Hereditary Breast Cancer Family Registry, and Department of Breast Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong.
Ava
A
Kwong
BIDMC- Hematology Oncology, Boston, MA, USA.
Nadine
N
Tung
BIDMC- Hematology Oncology, Boston, MA, USA.
Nalven
N
Tessa
Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA, USA.
Susan M
SM
Domchek
University of Kansas Medical Center, Kansas City, KS, USA.
Andrew K
AK
Godwin
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Johanna
J
Rantala
Department of Oncology, Karolinska University Hospital, Stockholm, Sweden.
Brita
B
Arver
The High Risk Clinic, Meirav Center, Sheba Medical Center, Tel Hashomer, Israel. feitan@post.tau.ac.il.|The Susanne Levy Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, 52621, Tel Hashomer, Israel. feitan@post.tau.ac.il.|The Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. feitan@post.tau.ac.il.
Eitan
E
Friedman
D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics / Q000517:prevention & control*; D019317:Evidence-Based Medicine; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics / Q000517:prevention & control*; D017410:Practice Guidelines as Topic; D000072036:Prophylactic Mastectomy; D065286:Prophylactic Surgical Procedures / Q000379:methods*; D011446:Prospective Studies; D011795:Surveys and Questionnaires; D055815:Young Adult
D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
BRCA1/BRCA2 mutation carriers; Early detection; High-risk women; Risk-reducing surgery; Surveillance schemes