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

被引：0

作者：

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 Lubinski

Katherine 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

机构：

[1] Sheba Medical Center,The High Risk Clinic, Meirav Center

[2] Sheba Medical Center,The Oncology Institute

[3] University Hospital Cologne,Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO)

[4] Cedars-Sinai Medical Center,Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute

[5] Medical University of Vienna,Department of Obstetrics and Gynecology

[6] General Hospital,Center for Medical Genetics

[7] Ghent University Hospital,Hereditary Cancer Program

[8] Catalan Institute of Oncology Cancer Network,Asan Medical Center

[9] University of Ulsan College of Medicine,Department of Surgery

[10] Daerim Saint Mary’s Hospital,Breast Medical Oncology and Clinical Cancer Genetics

[11] The University of Texas MD Anderson Cancer Center,Department of Genetics and Pathology

[12] Pomeranian Medical University in Szczecin,Adult Genetics Unit

[13] Hereditary Cancer Service Prince of Wales Hospital,University Department of Pediatrics

[14] South Australian Clinical Genetics Service SA Pathology at the Women’s and Children’s Hospital Site,Department of Medicine, Huntsman Cancer Institute

[15] University of Adelaide,Department of Medical Genetics

[16] UOS Centro Tumori Ereditari IRCCS San Martino,Clinical Genetics, Rigshospitalet

[17] UOC Epidemiologia Clinica IRCCS San Martino,Hong Kong Hereditary Breast Cancer Family Registry, and Department of Breast Surgery

[18] University of Utah,Basser Center for BRCA

[19] Hereditary Cancer Program at the BC Cancer Agency,Department of Clinical Genetics

[20] University of Cambridge Addenbrooke’s Hospital,Department of Oncology

[21] Copenhagen University Hospital,The Susanne Levy Oncogenetics Unit

[22] Erasmus MC Cancer Institute,The Sackler School of Medicine

[23] Memorial Sloan Kettering Cancer Center (MSKCC),undefined

[24] The University of Hong Kong,undefined

[25] BIDMC- Hematology Oncology,undefined

[26] University of Pennsylvania,undefined

[27] University of Kansas Medical Center,undefined

[28] Karolinska University Hospital,undefined

[29] Karolinska University Hospital,undefined

[30] Institute of Human Genetics,undefined

[31] Chaim Sheba Medical Center,undefined

[32] Tel-Aviv University,undefined

来源：

Breast Cancer Research and Treatment | 2016年 / 157卷

关键词：

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

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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.

引用

页码：319 / 327

页数：8

共 148 条

[1] Nelson HD(2014)Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation Ann Intern Med 160 255-266
[2] Pappas M(2014)Management of women at high risk of breast cancer BMJ 348 g2756-157
[3] Zakher B(2014)Risk-reducing salpingo-oophorectomy: a meta-analysis on impact on ovarian cancer risk and all cause mortality in BRCA 1 and BRCA 2 mutation carriers BMC Women’s Health 14 150-2120
[4] Mitchell JP(2015)Society of gynecologic oncology recommendations for the prevention of ovarian cancer Cancer 121 2108-8635
[5] Okinaka-Hu L(2005)Prophylactic oophorectomy reduces breast cancer penetrance during prospective, long-term follow-up of BRCA1 mutation carriers J Clin Oncol 23 8629-975
[6] Fu R(2010)Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality JAMA 304 967-1553
[7] Armstrong AC(2014)Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation J Clin Oncol 32 1547-3235
[8] Evans DG(2015)Hereditary Breast and Ovarian Cancer Research Group Netherlands. Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction J Natl Cancer 22 3230-406
[9] Marchetti C(2015)Chemoprevention for breast cancer Ann Surg Oncol 148 397-87
[10] De Felice F(2014)Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers Breast Cancer Res Treat 101 80-1328

← 1 2 3 4 5 6 7 8 9 10 →