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

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

doi:10.1007/s10549-016-3805-0

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

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 LubinskiKatherine 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

Department of Clinical Medicine

13 Citations (Scopus)

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.

Original language	English
Journal	Breast Cancer Research and Treatment
Volume	157
Issue number	2
Pages (from-to)	319-327
Number of pages	9
ISSN	0167-6806
DOIs	https://doi.org/10.1007/s10549-016-3805-0
Publication status	Published - 1 Jun 2016

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Madorsky-Feldman, D., Sklair-Levy, M., Perri, T., Laitman, Y., Paluch-Shimon, S., Schmutzler, R., Rhiem, K., Lester, J., Karlan, B. Y., Singer, C. F., Van Maerken, T., Claes, K., Brunet, J., Izquierdo, A., Teulé, A., Lee, J. W., Kim, S-W., Arun, B., Jakubowska, A., ... Friedman, E. (2016). An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers. Breast Cancer Research and Treatment, 157(2), 319-327. https://doi.org/10.1007/s10549-016-3805-0

Madorsky-Feldman, D, Sklair-Levy, M, Perri, T, Laitman, Y, Paluch-Shimon, S, Schmutzler, R, Rhiem, K, Lester, J, Karlan, BY, Singer, CF, Van Maerken, T, Claes, K, Brunet, J, Izquierdo, A, Teulé, A, Lee, JW, Kim, S-W, Arun, B, Jakubowska, A, Lubinski, J, Tucker, K, Poplawski, NK, Varesco, L, Bonelli, LA, Buys, SS, Mitchell, G, Tischkowitz, M, Gerdes, A-M, Seynaeve, C, Robson, M, Kwong, A, Tung, N, Tessa, N, Domchek, SM, Godwin, AK, Rantala, J, Arver, B & Friedman, E 2016, 'An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers', Breast Cancer Research and Treatment, vol. 157, no. 2, pp. 319-327. https://doi.org/10.1007/s10549-016-3805-0

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title = "An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers",

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 = "Dana Madorsky-Feldman and Miri Sklair-Levy and Tamar Perri and Yael Laitman and Shani Paluch-Shimon and Rita Schmutzler and Kerstin Rhiem and Jenny Lester and Karlan, {Beth Y} and Singer, {Christian F} and {Van Maerken}, Tom and Kathleen Claes and Joan Brunet and Angel Izquierdo and Alex Teul{\'e} and Lee, {Jong Won} and Sung-Won Kim and Banu Arun and Anna Jakubowska and Jan Lubinski and Katherine Tucker and Poplawski, {Nicola K} and Liliana Varesco and Bonelli, {Luigina Ada} and Buys, {Saundra S} and Gillian Mitchell and Marc Tischkowitz and Anne-Marie Gerdes and Caroline Seynaeve and Mark Robson and Ava Kwong and Nadine Tung and Nalven Tessa and Domchek, {Susan M} and Godwin, {Andrew K} and Johanna Rantala and Brita Arver and Eitan Friedman",

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T1 - An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

AU - Madorsky-Feldman, Dana

AU - Sklair-Levy, Miri

AU - Perri, Tamar

AU - Laitman, Yael

AU - Paluch-Shimon, Shani

AU - Schmutzler, Rita

AU - Rhiem, Kerstin

AU - Lester, Jenny

AU - Karlan, Beth Y

AU - Singer, Christian F

AU - Van Maerken, Tom

AU - Claes, Kathleen

AU - Brunet, Joan

AU - Izquierdo, Angel

AU - Teulé, Alex

AU - Lee, Jong Won

AU - Kim, Sung-Won

AU - Arun, Banu

AU - Jakubowska, Anna

AU - Lubinski, Jan

AU - Tucker, Katherine

AU - Poplawski, Nicola K

AU - Varesco, Liliana

AU - Bonelli, Luigina Ada

AU - Buys, Saundra S

AU - Mitchell, Gillian

AU - Tischkowitz, Marc

AU - Gerdes, Anne-Marie

AU - Seynaeve, Caroline

AU - Robson, Mark

AU - Kwong, Ava

AU - Tung, Nadine

AU - Tessa, Nalven

AU - Domchek, Susan M

AU - Godwin, Andrew K

AU - Rantala, Johanna

AU - Arver, Brita

AU - Friedman, Eitan

PY - 2016/6/1

Y1 - 2016/6/1

N2 - 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.

AB - 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.

U2 - 10.1007/s10549-016-3805-0

DO - 10.1007/s10549-016-3805-0

M3 - Journal article

C2 - 27117159

SN - 0167-6806

VL - 157

SP - 319

EP - 327

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

IS - 2

ER -

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

Abstract

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