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Published in: Current Breast Cancer Reports 3/2013

01-09-2013 | Risk, Prevention, and Screening (DL Hershman, Section Editor)

Breast Surveillance of Patients with BRCA1 and BRCA2 Mutations

Author: Ellen Warner

Published in: Current Breast Cancer Reports | Issue 3/2013

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Abstract

For women with BRCA1 or BRCA2 mutations who require breast surveillance, annual MRI and mammography begun by age 30 detect over 90 % of cancers, and find cancers at a much earlier stage than mammography alone. The reported distant-recurrence rate is low, but long-term survival data are not yet available. Alternating the two imaging modalities every six months may be preferable to concurrent imaging. The incremental benefit from adding ultrasound or clinical breast examination is negligible. After the first year of surveillance the false-positive rate drops to approximately 10 %, with recalls and/or biopsies causing, at most, a transient increase in anxiety. Breast surveillance for this population is expensive but cost-effective. Further research is necessary to determine the optimum surveillance strategy for young BRCA1-mutation carriers and for women over 60 with either mutation.
Literature
1.
go back to reference Schwartz MD, Isaacs C, Graves KD, et al. Long-term outcomes of BRCA1/BRCA2 testing: risk reduction and surveillance. Cancer. 2012;118:510–7.PubMedCrossRef Schwartz MD, Isaacs C, Graves KD, et al. Long-term outcomes of BRCA1/BRCA2 testing: risk reduction and surveillance. Cancer. 2012;118:510–7.PubMedCrossRef
2.
go back to reference Julian-Reynier C, Mancini J, Mouret-Fourme E, et al. Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations. Eur J Hum Genet. 2011;19:500–6.PubMedCrossRef Julian-Reynier C, Mancini J, Mouret-Fourme E, et al. Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations. Eur J Hum Genet. 2011;19:500–6.PubMedCrossRef
3.
go back to reference Haroun I, Graham T, Poll A, et al. Reasons for risk-reducing mastectomy versus MRI screening in a cohort of women at high hereditary risk of cancer. Breast. 2011;20:254–8.PubMedCrossRef Haroun I, Graham T, Poll A, et al. Reasons for risk-reducing mastectomy versus MRI screening in a cohort of women at high hereditary risk of cancer. Breast. 2011;20:254–8.PubMedCrossRef
4.
go back to reference Warner E, Messersmith H, Causer P, et al. Systematic review: using magnetic resonance imaging to screen women at high risk for breast cancer. Ann Int Med. 2008;148:671–9.PubMedCrossRef Warner E, Messersmith H, Causer P, et al. Systematic review: using magnetic resonance imaging to screen women at high risk for breast cancer. Ann Int Med. 2008;148:671–9.PubMedCrossRef
5.
go back to reference • Passaperuma K, Warner E, Causer PA, et al. Long term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer. 2012;107:24–30. This prospective single-centre observational study has the longest follow-up of BRCA mutation carriers with cancers diagnosed on surveillance. PubMedCrossRef • Passaperuma K, Warner E, Causer PA, et al. Long term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer. 2012;107:24–30. This prospective single-centre observational study has the longest follow-up of BRCA mutation carriers with cancers diagnosed on surveillance. PubMedCrossRef
6.
go back to reference Da Silva L, Lakhani SR. Pathology of hereditary breast cancer. Mod Pathol. 2010;23(Suppl2):S46–51.PubMedCrossRef Da Silva L, Lakhani SR. Pathology of hereditary breast cancer. Mod Pathol. 2010;23(Suppl2):S46–51.PubMedCrossRef
7.
go back to reference Tilanus-Linthorst MA, Obdejin IM, Wim CJH, et al. BRCA1 mutation and young age predict fast breast cancer growth in the Dutch, United Kingdom, and Canadian magnetic resonance imaging clinical trials. Clin Cancer Res. 2007;13:7357–62.PubMedCrossRef Tilanus-Linthorst MA, Obdejin IM, Wim CJH, et al. BRCA1 mutation and young age predict fast breast cancer growth in the Dutch, United Kingdom, and Canadian magnetic resonance imaging clinical trials. Clin Cancer Res. 2007;13:7357–62.PubMedCrossRef
8.
go back to reference Bigenwald RZ, Warner E, Gunasekara A, et al. Is mammography adequate for screening women with inherited BRCA mutations and low breast density? Cancer Epidemiol Biomarkers Prev. 2008;17:706–11.PubMedCrossRef Bigenwald RZ, Warner E, Gunasekara A, et al. Is mammography adequate for screening women with inherited BRCA mutations and low breast density? Cancer Epidemiol Biomarkers Prev. 2008;17:706–11.PubMedCrossRef
9.
go back to reference Pisano ED, Hendrick RE, Yaffe MJ, et al. Diagnostic accuracy of digital versus film mammography: exploratory analysis of selected population subgroups in DMIST. Radiology. 2008;246:376.PubMedCrossRef Pisano ED, Hendrick RE, Yaffe MJ, et al. Diagnostic accuracy of digital versus film mammography: exploratory analysis of selected population subgroups in DMIST. Radiology. 2008;246:376.PubMedCrossRef
10.
go back to reference Sardanelli F, Podo F, Santoro F, et al. Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast enhanced magnetic resonance imaging (the High Breast Cancer Risk Italian 1 Study). Invest Radiol. 2011;46:94–105.PubMedCrossRef Sardanelli F, Podo F, Santoro F, et al. Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast enhanced magnetic resonance imaging (the High Breast Cancer Risk Italian 1 Study). Invest Radiol. 2011;46:94–105.PubMedCrossRef
11.
go back to reference Berg WA, Zhang Z, Lehrer D, et al. Detection of breast cancer with addition of annual screening ultrasound or a single screening MRI to mammography in women with elevated breast cancer risk. JAMA. 2012;307:1394–404.PubMedCrossRef Berg WA, Zhang Z, Lehrer D, et al. Detection of breast cancer with addition of annual screening ultrasound or a single screening MRI to mammography in women with elevated breast cancer risk. JAMA. 2012;307:1394–404.PubMedCrossRef
12.
go back to reference • Rijnsburger AJ, Obdeijn I-M, Kaas R, et al. BRCA1-associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC screening study. J Clin Oncol. 2010;28:5265–73. This prospective multi-care observational study has the largest cohort of previously unaffected BRCA mutation carriers with cancers diagnosed on surveillance. PubMedCrossRef • Rijnsburger AJ, Obdeijn I-M, Kaas R, et al. BRCA1-associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC screening study. J Clin Oncol. 2010;28:5265–73. This prospective multi-care observational study has the largest cohort of previously unaffected BRCA mutation carriers with cancers diagnosed on surveillance. PubMedCrossRef
13.
go back to reference Spiegel TN, Hill KA, Warner E. High risk women and breast examination – futile or functional? The attitudes of women with BRCA1 and BRCA2 mutations towards clinical breast exams and breast self exams. J Womens Health. 2009;18:1019–24.CrossRef Spiegel TN, Hill KA, Warner E. High risk women and breast examination – futile or functional? The attitudes of women with BRCA1 and BRCA2 mutations towards clinical breast exams and breast self exams. J Womens Health. 2009;18:1019–24.CrossRef
14.
go back to reference • Warner E, Hill K, Causer P, et al. Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging. J Clin Oncol. 2011;29:1664–9. This is the only matched cohort study comparing tumour incidence and stage for BRCA mutation carriers screened with or without MRI. PubMedCrossRef • Warner E, Hill K, Causer P, et al. Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging. J Clin Oncol. 2011;29:1664–9. This is the only matched cohort study comparing tumour incidence and stage for BRCA mutation carriers screened with or without MRI. PubMedCrossRef
15.
go back to reference Shah P, Rosen M, Stopfer J, et al. Prospective study of breast MRI in BRCA1 and BRCA2 mutation carriers: effect of mutation status on cancer incidence. Breast Cancer Res Treat. 2009;118:539–46.PubMedCrossRef Shah P, Rosen M, Stopfer J, et al. Prospective study of breast MRI in BRCA1 and BRCA2 mutation carriers: effect of mutation status on cancer incidence. Breast Cancer Res Treat. 2009;118:539–46.PubMedCrossRef
16.
go back to reference Warner E, Causer PA, Wong JW-N, et al. Improvement in DCIS detection rates by MRI over time in a high risk screening study. Breast J. 2011;17:9–17.PubMedCrossRef Warner E, Causer PA, Wong JW-N, et al. Improvement in DCIS detection rates by MRI over time in a high risk screening study. Breast J. 2011;17:9–17.PubMedCrossRef
17.
go back to reference Obdeijn IM, Loo CE, Rijnsburger AJ, et al. Assessment of false-negative cases of breast MR imaging in women with a familial or genetic predisposition. Breast Cancer Res Treat. 2010;119:399–407.PubMedCrossRef Obdeijn IM, Loo CE, Rijnsburger AJ, et al. Assessment of false-negative cases of breast MR imaging in women with a familial or genetic predisposition. Breast Cancer Res Treat. 2010;119:399–407.PubMedCrossRef
18.
go back to reference Kurian AW, Munoz DF, Rust P, et al. Online tool to guide decisions for BRCA1/2 mutation carriers. J Clin Oncol. 2012;30:497–506.PubMedCrossRef Kurian AW, Munoz DF, Rust P, et al. Online tool to guide decisions for BRCA1/2 mutation carriers. J Clin Oncol. 2012;30:497–506.PubMedCrossRef
19.
go back to reference Sigal BM, Nunioz DF, Kurian AW, Plevritis SK. A simulation model to predict the impact of prophylactic surgery and screening on the life expectancy of BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2012;21:1066–77.PubMedCrossRef Sigal BM, Nunioz DF, Kurian AW, Plevritis SK. A simulation model to predict the impact of prophylactic surgery and screening on the life expectancy of BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2012;21:1066–77.PubMedCrossRef
20.
go back to reference Lowry KP, Lee JM, Kong CY, et al. Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers. Cancer. 2012;118:2021–30.PubMedCrossRef Lowry KP, Lee JM, Kong CY, et al. Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers. Cancer. 2012;118:2021–30.PubMedCrossRef
21.
go back to reference Hutton J, Walker LG, Gilbert FJ, et al. Psychological impact and acceptability of magnetic resonance imaging and xray mammography: the MARIBS study. Br J Cancer. 2011;104:578–86.PubMedCrossRef Hutton J, Walker LG, Gilbert FJ, et al. Psychological impact and acceptability of magnetic resonance imaging and xray mammography: the MARIBS study. Br J Cancer. 2011;104:578–86.PubMedCrossRef
22.
go back to reference Leung JWT. Utility of second-look ultrasound in the evaluation of MRI-detected breast lesions. Semin Roentgenol. 2011;46:260–74.PubMedCrossRef Leung JWT. Utility of second-look ultrasound in the evaluation of MRI-detected breast lesions. Semin Roentgenol. 2011;46:260–74.PubMedCrossRef
23.
go back to reference Spiegel TN, Esplen MJ, Hill KA, et al. Psychological impact of recall on women with BRCA mutations undergoing MRI surveillance. Breast. 2011;20:424–30.PubMedCrossRef Spiegel TN, Esplen MJ, Hill KA, et al. Psychological impact of recall on women with BRCA mutations undergoing MRI surveillance. Breast. 2011;20:424–30.PubMedCrossRef
24.
go back to reference der Wiede MC J-v, Greuter MJW, Jansen L, et al. Exposure to low dose radiation and the risk of breast cancer among women with a familial or genetic predisposition: a meta-analysis. Eur Radiol. 2010;20:2547–56.CrossRef der Wiede MC J-v, Greuter MJW, Jansen L, et al. Exposure to low dose radiation and the risk of breast cancer among women with a familial or genetic predisposition: a meta-analysis. Eur Radiol. 2010;20:2547–56.CrossRef
25.
go back to reference Pijpe A, Andrieu N, Easton DF, et al. Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ. 2012;345:e5660.PubMedCrossRef Pijpe A, Andrieu N, Easton DF, et al. Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ. 2012;345:e5660.PubMedCrossRef
26.
go back to reference Lee JM, McMahon PM, Kong CY, et al. Cost-effectiveness of breast MR imaging and screen film-mammography for screening BRCA1 gene mutation carriers. Radiology. 2010;254:793–800.PubMedCrossRef Lee JM, McMahon PM, Kong CY, et al. Cost-effectiveness of breast MR imaging and screen film-mammography for screening BRCA1 gene mutation carriers. Radiology. 2010;254:793–800.PubMedCrossRef
27.
go back to reference Plevritis SK, Kurian AW, Sigal BM, et al. Cost effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA. 2006;295:2374–84.PubMedCrossRef Plevritis SK, Kurian AW, Sigal BM, et al. Cost effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA. 2006;295:2374–84.PubMedCrossRef
28.
go back to reference Griebsch I, Brown J, Boggis C, et al. Cost-effectiveness of screening with contrast-enhanced magnetic resonance imaging vs xray mammography of women at a high familial risk of breast cancer. Br J Cancer. 2006;95:801–10.PubMedCrossRef Griebsch I, Brown J, Boggis C, et al. Cost-effectiveness of screening with contrast-enhanced magnetic resonance imaging vs xray mammography of women at a high familial risk of breast cancer. Br J Cancer. 2006;95:801–10.PubMedCrossRef
29.
go back to reference Grann VR, Patel PR, Jacobson JS, et al. Comparative effectiveness of screening and prevention strategies among BRCA1/2-affected mutation carriers. Breast Cancer Res Treat. 2011;125:837–47.PubMedCrossRef Grann VR, Patel PR, Jacobson JS, et al. Comparative effectiveness of screening and prevention strategies among BRCA1/2-affected mutation carriers. Breast Cancer Res Treat. 2011;125:837–47.PubMedCrossRef
30.
go back to reference Cott Chubiz JE, Lee JM, Gilmore ME, et al. Cost-effectiveness of alternating magnetic resonance imaging and digital mammography screening in BRCA1 and BRCA2 gene mutation carriers. Cancer. 2013;119:1266–76.PubMedCrossRef Cott Chubiz JE, Lee JM, Gilmore ME, et al. Cost-effectiveness of alternating magnetic resonance imaging and digital mammography screening in BRCA1 and BRCA2 gene mutation carriers. Cancer. 2013;119:1266–76.PubMedCrossRef
32.
go back to reference Heijnskijk EA, Warner E, Gilbert F, et al. Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening – MRISC, MARIBS, and Canadian studies combined. Cancer Epidemiol Biomarkers Prev. 2012;21:1458–68.CrossRef Heijnskijk EA, Warner E, Gilbert F, et al. Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening – MRISC, MARIBS, and Canadian studies combined. Cancer Epidemiol Biomarkers Prev. 2012;21:1458–68.CrossRef
33.
go back to reference Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25:1329–33.PubMedCrossRef Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25:1329–33.PubMedCrossRef
35.
go back to reference Saslow D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007;57:75–89.PubMedCrossRef Saslow D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007;57:75–89.PubMedCrossRef
37.
go back to reference Balman J, Diez O, Rubio IT, Cardoso F. BRCA in breast cancer: ESMO clinical practice guidelines. Ann Oncol. 2011;22 suppl 6:vi 31–vi34. Balman J, Diez O, Rubio IT, Cardoso F. BRCA in breast cancer: ESMO clinical practice guidelines. Ann Oncol. 2011;22 suppl 6:vi 31–vi34.
Metadata
Title
Breast Surveillance of Patients with BRCA1 and BRCA2 Mutations
Author
Ellen Warner
Publication date
01-09-2013
Publisher
Springer US
Published in
Current Breast Cancer Reports / Issue 3/2013
Print ISSN: 1943-4588
Electronic ISSN: 1943-4596
DOI
https://doi.org/10.1007/s12609-013-0111-2

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