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

被引：22

作者：

Madorsky-Feldman, Dana ^{[1
]}

Sklair-Levy, Miri ^{[1
]}

Perri, Tamar ^{[1
]}

Laitman, Yael ^{[1
]}

Paluch-Shimon, Shani ^{[2
]}

Schmutzler, Rita ^{[3
]}

Rhiem, Kerstin ^{[3
]}

Lester, Jenny ^{[4
]}

Karlan, Beth Y. ^{[4
]}

Singer, Christian F. ^{[5
]}

Van Maerken, Tom ^{[6
]}

Claes, Kathleen ^{[6
]}

Brunet, Joan ^{[7
]}

Izquierdo, Angel ^{[7
]}

Teule, Alex ^{[7
]}

Lee, Jong Won ^{[8
]}

Kim, Sung-Won ^{[9
]}

Arun, Banu ^{[10
]}

Jakubowska, Anna ^{[11
]}

Lubinski, Jan ^{[11
]}

Tucker, Katherine ^{[12
]}

Poplawski, Nicola K. ^{[13
,14
]}

Varesco, Liliana ^{[15
]}

Bonelli, Luigina Ada ^{[16
]}

Buys, Saundra S. ^{[17
]}

Mitchell, Gillian ^{[18
]}

Tischkowitz, Marc ^{[19
]}

Gerdes, Anne-Marie ^{[20
]}

Seynaeve, Caroline ^{[21
]}

Robson, Mark ^{[22
]}

Kwong, Ava ^{[23
,24
]}

Tung, Nadine ^{[25
]}

Tessa, Nalven ^{[25
]}

Domchek, Susan M. ^{[26
]}

Godwin, Andrew K. ^{[27
]}

Rantala, Johanna ^{[28
]}

Arver, Brita ^{[29
]}

Friedman, Eitan ^{[1
,30
,31
]}

机构：

[1] Sheba Med Ctr, Meirav Ctr, High Risk Clin, Tel Hashomer, Israel

[2] Sheba Med Ctr, Inst Oncol, Tel Hashomer, Israel

[3] Univ Hosp Cologne, CIO, Ctr Hereditary Breast & Ovarian Canc, Cologne, Germany

[4] Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Womens Canc Program, Los Angeles, CA 90048 USA

[5] Med Univ Vienna, Gen Hosp, Dept Obstet & Gynecol, Vienna, Austria

[6] Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium

[7] Catalan Inst Oncol Canc Network, Hereditary Canc Program, Barcelona, Spain

[8] Univ Ulsan, Coll Med, Asan Med Ctr, Seoul, South Korea

[9] Daerim St Marys Hosp, Dept Surg, Seoul, South Korea

[10] Univ Texas MD Anderson Canc Ctr, Breast Med Oncol & Clin Canc Genet, Houston, TX 77030 USA

[11] Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland

[12] Prince Wales Hosp, Hereditary Canc Serv, Sydney, NSW, Australia

[13] South Australian Clin Genet Serv SA Pathol, Adult Genet Unit, Womens & Childrens Hosp Site, Adelaide, SA, Australia

[14] Univ Adelaide, Univ Dept Pediat, Adelaide, SA, Australia

[15] UOS Ctr Tumori Ereditari IRCCS San Martino, Genoa, Italy

[16] UOC Epidemiol Clin IRCCS San Martino, Genoa, Italy

[17] Univ Utah, Dept Med, Huntsman Canc Inst, Salt Lake City, UT 84112 USA

[18] BC Canc Agcy, Hereditary Canc Program, Vancouver, BC, Canada

[19] Univ Cambridge, Addenbrookes Hosp, Dept Med Genet, Cambridge CB2 2QQ, England

[20] Copenhagen Univ Hosp, Rigshosp, Clin Genet, Copenhagen, Denmark

[21] Erasmus MC Canc Inst, Rotterdam, Netherlands

[22] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA

[23] Univ Hong Kong, Hong Kong Hereditary Breast Canc Family Registry, Pok Fu Lam, Hong Kong, Peoples R China

[24] Univ Hong Kong, Dept Breast Surg, Pok Fu Lam, Hong Kong, Peoples R China

[25] BIDMC Hematol Oncol, Boston, MA USA

[26] Univ Penn, Basser Ctr BRCA, Philadelphia, PA 19104 USA

[27] Univ Kansas, Med Ctr, Kansas City, KS 66103 USA

[28] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

[29] Karolinska Univ Hosp, Dept Oncol, Stockholm, Sweden

[30] Chaim Sheba Med Ctr, Inst Human Genet, Susanne Levy Oncogenet Unit, IL-52621 Tel Hashomer, Israel

[31] Tel Aviv Univ, Sackler Sch Med, Ramat Aviv, Israel

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2016年 / 157卷 / 02期

关键词：

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; REDUCTION; RECOMMENDATIONS;

D O I：

10.1007/s10549-016-3805-0

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

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：9

共 32 条

[1] Management of women at high risk of breast cancer [J].

Armstrong, Anne C. ;

Evans, Gareth D. .

BMJ-BRITISH MEDICAL JOURNAL, 2014, 348

[2] The carrier clinic: an evaluation of a novel clinic dedicated to the follow-up of BRCA1 and BRCA2 carriers-implications for oncogenetics practice [J].

Bancroft, E. K. ;

Locke, I. ;

Ardern-Jones, A. ;

D'Mello, L. ;

McReynolds, K. ;

Lennard, F. ;

Barbachano, Y. ;

Barwell, J. ;

Walker, L. ;

Mitchell, G. ;

Dorkins, H. ;

Cummings, C. ;

Paterson, J. ;

Kote-Jarai, Z. ;

Mitra, A. ;

Jhavar, S. ;

Thomas, S. ;

Houlston, R. ;

Shanley, S. ;

Eeles, R. A. .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (07) :486-491

[3] Intensified Surveillance for Early Detection of Breast Cancer in High-Risk Patients [J].

Bick, Ulrich .

BREAST CARE, 2015, 10 (01) :13-20

[4] Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers [J].

Chai, Xinglei ;

Friebel, Tara M. ;

Singer, Christian F. ;

Evans, D. Gareth ;

Lynch, Henry T. ;

Isaacs, Claudine ;

Garber, Judy E. ;

Neuhausen, Susan L. ;

Matloff, Ellen ;

Eeles, Rosalind ;

Tung, Nadine ;

Weitzel, Jeffrey N. ;

Couch, Fergus J. ;

Hulick, Peter J. ;

Ganz, Patricia A. ;

Daly, Mary B. ;

Olopade, Olufunmilayo I. ;

Tomlinson, Gail ;

Blum, Joanne L. ;

Domchek, Susan M. ;

Chen, Jinbo ;

Rebbeck, Timothy R. .

BREAST CANCER RESEARCH AND TREATMENT, 2014, 148 (02) :397-406

[5] Cost-effectiveness of alternating magnetic resonance imaging and digital mammography screening in BRCA1 and BRCA2 gene mutation carriers [J].

Chubiz, Jessica E. Cott ;

Lee, Janie M. ;

Gilmore, Michael E. ;

Kong, Chung Y. ;

Lowry, Kathryn P. ;

Halpern, Elkan F. ;

McMahon, Pamela M. ;

Ryan, Paula D. ;

Gazelle, G. Scott .

CANCER, 2013, 119 (06) :1266-1276

[6] Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers With Cancer Risk and Mortality [J].

Domchek, Susan M. ;

Friebel, Tara M. ;

Singer, Christian F. ;

Evans, D. Gareth ;

Lynch, Henry T. ;

Isaacs, Claudine ;

Garber, Judy E. ;

Neuhausen, Susan L. ;

Matloff, Ellen ;

Eeles, Rosalind ;

Pichert, Gabriella ;

Van T'veer, Laura ;

Tung, Nadine ;

Weitzel, Jeffrey N. ;

Couch, Fergus J. ;

Rubinstein, Wendy S. ;

Ganz, Patricia A. ;

Daly, Mary B. ;

Olopade, Olufunmilayo I. ;

Tomlinson, Gail ;

Schildkraut, Joellen ;

Blum, Joanne L. ;

Rebbeck, Timothy R. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2010, 304 (09) :967-975

[7] Impact of Oophorectomy on Cancer Incidence and Mortality in Women With a BRCA1 or BRCA2 Mutation [J].

Finch, Amy P. M. ;

Lubinski, Jan ;

Moller, Pal ;

Singer, Christian F. ;

Karlan, Beth ;

Senter, Leigha ;

Rosen, Barry ;

Maehle, Lovise ;

Ghadirian, Parviz ;

Cybulski, Cezary ;

Huzarski, Tomasz ;

Eisen, Andrea ;

Foulkes, William D. ;

Kim-Sing, Charmaine ;

Ainsworth, Peter ;

Tung, Nadine ;

Lynch, Henry T. ;

Neuhausen, Susan ;

Metcalfe, Kelly A. ;

Thompson, Islay ;

Murphy, Joan ;

Sun, Ping ;

Narod, Steven A. .

JOURNAL OF CLINICAL ONCOLOGY, 2014, 32 (15) :1547-U43

[8] Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers [J].

Finkelman, Brian S. ;

Rubinstein, Wendy S. ;

Friedman, Sue ;

Friebel, Tara M. ;

Dubitsky, Shera ;

Schonberger, Niecee Singer ;

Shoretz, Rochelle ;

Singer, Christian F. ;

Blum, Joanne L. ;

Tung, Nadine ;

Olopade, Olufunmilayo I. ;

Weitzel, Jeffrey N. ;

Lynch, Henry T. ;

Snyder, Carrie ;

Garber, Judy E. ;

Schildkraut, Joellen ;

Daly, Mary B. ;

Isaacs, Claudine ;

Pichert, Gabrielle ;

Neuhausen, Susan L. ;

Couch, Fergus J. ;

van't Veer, Laura ;

Eeles, Rosalind ;

Bancroft, Elizabeth ;

Evans, D. Gareth ;

Ganz, Patricia A. ;

Tomlinson, Gail E. ;

Narod, Steven A. ;

Matloff, Ellen ;

Domchek, Susan ;

Rebbeck, Timothy R. .

JOURNAL OF CLINICAL ONCOLOGY, 2012, 30 (12) :1321-1328

[9] Mammography screening and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a prospective study [J].

Giannakeas, Vasily ;

Lubinski, Jan ;

Gronwald, Jacek ;

Moller, Pal ;

Armel, Susan ;

Lynch, Henry T. ;

Foulkes, William D. ;

Kim-Sing, Charmaine ;

Singer, Christian ;

Neuhausen, Susan L. ;

Friedman, Eitan ;

Tung, Nadine ;

Senter, Leigha ;

Sun, Ping ;

Narod, Steven A. .

BREAST CANCER RESEARCH AND TREATMENT, 2014, 147 (01) :113-118

[10] A prospective study of risk-reducing salpingo-oophorectomy and longitudinal CA-125 screening among women at increased genetic risk of ovarian cancer: Design and baseline characteristics: A Gynecologic oncology group study [J].

Greene, Mark H. ;

Piedmonte, Marion ;

Alberts, Dave ;

Gail, Mitchell ;

Hensley, Martee ;

Miner, Zoe ;

Mai, Phuong L. ;

Loud, Jennifer ;

Rodriguez, Gustavo ;

Basil, Jack ;

Boggess, John ;

Schwartz, Peter E. ;

Kelley, Joseph L. ;

Wakeley, Katie E. ;

Minasian, Lori ;

Skates, Stephen .

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2008, 17 (03) :594-604

← 1 2 3 4 →