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Erschienen in: Breast Cancer Research and Treatment 1/2011

01.08.2011 | Epidemiology

Breast cancer screening in BRCA1 and BRCA2 mutation carriers after risk reducing salpingo-oophorectomy

verfasst von: Ingrid E. Fakkert, Liesbeth Jansen, Kees Meijer, Theo Kok, Jan C. Oosterwijk, Marian J. E. Mourits, Geertruida H. de Bock

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 1/2011

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Abstract

Breast cancer screening is offered to BRCA1 and BRCA2 mutation carriers from the age of 25 years because of their increased risk of breast cancer. As ovarian cancer screening is not effective, risk-reducing salpingho-oophorectomy (RRSO) is offered after child bearing age. RRSO before menopause reduces the breast cancer risk as well as breast density. It can be questioned whether after premenopausal RRSO, the intensive breast cancer screening program needs modification. We evaluated the effectiveness of breast cancer screening by clinical breast examination (CBE), mammography, and MRI in a population of 88 BRCA1 and 51 BRCA2 mutation carriers who had RRSO before the age of 52. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for each screening modality. During 422 women years, 14 breast cancers were diagnosed; 2 prevalent, 10 screen detected and 2 interval breast cancers (12 in BRCA1 and 2 in BRCA2 mutation carriers). Sensitivity, specificity, PPV, and NPV for the combined screening were 85.7%, 97.6%, 30.0%, and 99.8%, respectively. No tumors were found with CBE, MRI had a sensitivity of 60.0% and mammography of 55.6%. Off all the tumors, 60% were node positive. Effectiveness of CBE and mammography was comparable to earlier findings. MRI screening seemed less effective than earlier findings. After RRSO, the breast cancer risk in BRCA1 and BRCA2 mutation carriers is still high enough to justify intensive breast cancer screening with MRI and mammography.
Literatur
2.
Zurück zum Zitat Claus EB, Risch N, Thompson WD (1994) Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 73:643–651PubMedCrossRef Claus EB, Risch N, Thompson WD (1994) Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 73:643–651PubMedCrossRef
3.
Zurück zum Zitat Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117–1130PubMedCrossRef Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117–1130PubMedCrossRef
4.
Zurück zum Zitat Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25:1329–1333PubMedCrossRef Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25:1329–1333PubMedCrossRef
5.
Zurück zum Zitat Van der Kolk DM, De Bock GH, Leegte BK, Schaapveld M, Mourits MJ, De Vries J, Van der Hout AH, Oosterwijk JC (2010) Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age. Breast Cancer Res Treat 124:643–651PubMedCrossRef Van der Kolk DM, De Bock GH, Leegte BK, Schaapveld M, Mourits MJ, De Vries J, Van der Hout AH, Oosterwijk JC (2010) Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age. Breast Cancer Res Treat 124:643–651PubMedCrossRef
6.
Zurück zum Zitat Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van ‘t Veer L, Garber JE, Evans GR et al (2004) Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 22:1055–1062PubMedCrossRef Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van ‘t Veer L, Garber JE, Evans GR et al (2004) Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 22:1055–1062PubMedCrossRef
7.
Zurück zum Zitat Heemskerk-Gerritsen BA, Brekelmans CT, Menke-Pluymers MB, van Geel AN, Tilanus-Linthorst MM, Bartels CC, Tan M et al (2007) Prophylactic mastectomy in BRCA1/2 mutation carriers and women at risk of hereditary breast cancer: long-term experiences at the Rotterdam Family Cancer Clinic. Ann Surg Oncol 14:3335–3344PubMedCrossRef Heemskerk-Gerritsen BA, Brekelmans CT, Menke-Pluymers MB, van Geel AN, Tilanus-Linthorst MM, Bartels CC, Tan M et al (2007) Prophylactic mastectomy in BRCA1/2 mutation carriers and women at risk of hereditary breast cancer: long-term experiences at the Rotterdam Family Cancer Clinic. Ann Surg Oncol 14:3335–3344PubMedCrossRef
8.
Zurück zum Zitat Kriege M, Brekelmans CT, Boetes C, Besnard PE, Zonderland HM, Obdeijn IM, Manoliu RA et al (2004) Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 351:427–437PubMedCrossRef Kriege M, Brekelmans CT, Boetes C, Besnard PE, Zonderland HM, Obdeijn IM, Manoliu RA et al (2004) Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 351:427–437PubMedCrossRef
9.
Zurück zum Zitat Warner E, Plewes DB, Hill KA, Causer PA, Zubovits JT, Jong RA, Cutrara MR et al (2004) Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 292:1317–1325PubMedCrossRef Warner E, Plewes DB, Hill KA, Causer PA, Zubovits JT, Jong RA, Cutrara MR et al (2004) Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 292:1317–1325PubMedCrossRef
10.
Zurück zum Zitat Leach MO, Boggis CR, Dixon AK, Easton DF, Eeles RA, Evans DG, Gilbert FJ et al (2005) Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet 365:1769–1778PubMedCrossRef Leach MO, Boggis CR, Dixon AK, Easton DF, Eeles RA, Evans DG, Gilbert FJ et al (2005) Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet 365:1769–1778PubMedCrossRef
11.
Zurück zum Zitat Kuhl CK, Schrading S, Leutner CC, Morakkabati-Spitz N, Wardelmann E, Fimmers R, Kuhn W et al (2005) Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer. J Clin Oncol 23:8469–8476PubMedCrossRef Kuhl CK, Schrading S, Leutner CC, Morakkabati-Spitz N, Wardelmann E, Fimmers R, Kuhn W et al (2005) Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer. J Clin Oncol 23:8469–8476PubMedCrossRef
12.
Zurück zum Zitat Rijnsburger AJ, Obdeyn I, Kaas R, Tilanus-Linthors MMA, Boetes C, Loo CE et al (2010) BRCA1-Associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC study. J Clin Oncol 28:5265–5273PubMedCrossRef Rijnsburger AJ, Obdeyn I, Kaas R, Tilanus-Linthors MMA, Boetes C, Loo CE et al (2010) BRCA1-Associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC study. J Clin Oncol 28:5265–5273PubMedCrossRef
13.
Zurück zum Zitat Van de Velde NM, Mourits MJ, de VJ, Arts HJ, Leegte BK, Dijkhuis G, Oosterwijk JC et al (2009) Time to stop ovarian cancer screening in BRCA1/2 mutation carriers? Int J Cancer 124:919–923PubMedCrossRef Van de Velde NM, Mourits MJ, de VJ, Arts HJ, Leegte BK, Dijkhuis G, Oosterwijk JC et al (2009) Time to stop ovarian cancer screening in BRCA1/2 mutation carriers? Int J Cancer 124:919–923PubMedCrossRef
14.
Zurück zum Zitat Hermsen BB, Olivier RI, Verheijen RH, van Beurden M, de Hullu JA, Massuger LF, Burger CW, Brekelmans CT, Mourits MJ, de Bock GH, Gaarenstroom KN, van Boven HH, Mooij TM, Rookus MA (2007) No efficacy of annual gynaecological screening in BRCA1/2 mutation carriers; an observational follow-up study. Br J Cancer 96:1335–1342PubMed Hermsen BB, Olivier RI, Verheijen RH, van Beurden M, de Hullu JA, Massuger LF, Burger CW, Brekelmans CT, Mourits MJ, de Bock GH, Gaarenstroom KN, van Boven HH, Mooij TM, Rookus MA (2007) No efficacy of annual gynaecological screening in BRCA1/2 mutation carriers; an observational follow-up study. Br J Cancer 96:1335–1342PubMed
15.
Zurück zum Zitat Meijers-Heijboer H, Brekelmans CT, Menke-Pluymers M, Seynaeve C, Baalbergen A, Burger C, Crepin E et al (2003) Use of genetic testing and prophylactic mastectomy and oophorectomy in women with breast or ovarian cancer from families with a BRCA1 or BRCA2 mutation. J Clin Oncol 21:1675–1681PubMedCrossRef Meijers-Heijboer H, Brekelmans CT, Menke-Pluymers M, Seynaeve C, Baalbergen A, Burger C, Crepin E et al (2003) Use of genetic testing and prophylactic mastectomy and oophorectomy in women with breast or ovarian cancer from families with a BRCA1 or BRCA2 mutation. J Clin Oncol 21:1675–1681PubMedCrossRef
16.
Zurück zum Zitat Metcalfe KA, Birenbaum-Carmeli D, Lubinski J, Gronwald J, Lynch H, Moller P, Ghadirian P et al (2008) International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer 122:2017–2022PubMedCrossRef Metcalfe KA, Birenbaum-Carmeli D, Lubinski J, Gronwald J, Lynch H, Moller P, Ghadirian P et al (2008) International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer 122:2017–2022PubMedCrossRef
17.
Zurück zum Zitat Rebbeck TR, Kauff ND, Domchek SM (2009) Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 101:80–87PubMedCrossRef Rebbeck TR, Kauff ND, Domchek SM (2009) Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 101:80–87PubMedCrossRef
19.
Zurück zum Zitat National Institute of Clinical Excellence (NICE) (2006) National Institute of Clinical Excellence (NICE) guideline CG41 Familial Breast Cancer 2004 updated in 2006. NICE. http://www.nice.org.uk/CG41. Accessed 17 February 2011 National Institute of Clinical Excellence (NICE) (2006) National Institute of Clinical Excellence (NICE) guideline CG41 Familial Breast Cancer 2004 updated in 2006. NICE. http://​www.​nice.​org.​uk/​CG41. Accessed 17 February 2011
20.
Zurück zum Zitat Kenkhuis MJ, de Bock GH, Elferink PO, Arts HJ, Oosterwijk JC, Jansen L, Mourits MJ (2010) Short-term surgical outcome and safety of risk reducing salpingo-oophorectomy in BRCA1/2 mutation carriers. Maturitas 66:310–314PubMedCrossRef Kenkhuis MJ, de Bock GH, Elferink PO, Arts HJ, Oosterwijk JC, Jansen L, Mourits MJ (2010) Short-term surgical outcome and safety of risk reducing salpingo-oophorectomy in BRCA1/2 mutation carriers. Maturitas 66:310–314PubMedCrossRef
21.
Zurück zum Zitat Tardivon AA, Athanasiou A, Thibault F, El Khoury C (2007) Breast imaging and reporting data system (BIRADS): magnetic resonance imaging. Eur J Radiol 61:212–215PubMedCrossRef Tardivon AA, Athanasiou A, Thibault F, El Khoury C (2007) Breast imaging and reporting data system (BIRADS): magnetic resonance imaging. Eur J Radiol 61:212–215PubMedCrossRef
22.
Zurück zum Zitat Liberman L, Menell JH (2002) Breast imaging reporting and data system (BI-RADS). Radiol Clin N Am 40:409–430PubMedCrossRef Liberman L, Menell JH (2002) Breast imaging reporting and data system (BI-RADS). Radiol Clin N Am 40:409–430PubMedCrossRef
23.
Zurück zum Zitat Obenauer S, Hermann KP, Grabbe E (2005) Applications and literature review of the BI-RADS classification. Eur Radiol 15:1027–1036PubMedCrossRef Obenauer S, Hermann KP, Grabbe E (2005) Applications and literature review of the BI-RADS classification. Eur Radiol 15:1027–1036PubMedCrossRef
25.
Zurück zum Zitat Chiarelli AM, Majpruz V, Brown P, Thériault M, Shumak R, Mai V (2009) The contribution of clinical breast examination to the accuracy of breast screening. J Natl Cancer Inst 101:1236–1243PubMedCrossRef Chiarelli AM, Majpruz V, Brown P, Thériault M, Shumak R, Mai V (2009) The contribution of clinical breast examination to the accuracy of breast screening. J Natl Cancer Inst 101:1236–1243PubMedCrossRef
26.
Zurück zum Zitat Obdeijn IM, Loo CE, Rijnsburger AJ, Wasser MNJM, Bergers E, Kok T et al (2010) Assessment of false-negative cases of breast MR imaging in women with a familial or genetic predisposition. Breast Cancer Res Treat 119:399–407PubMedCrossRef Obdeijn IM, Loo CE, Rijnsburger AJ, Wasser MNJM, Bergers E, Kok T et al (2010) Assessment of false-negative cases of breast MR imaging in women with a familial or genetic predisposition. Breast Cancer Res Treat 119:399–407PubMedCrossRef
27.
Zurück zum Zitat Lu W, de Bock GH, Schaapveld M, Baas PC, Wiggers T, Jansen L (2010) The value of routine physical examination in the follow up of women with a history of early breast cancer. Eur J Cancer (in press) Lu W, de Bock GH, Schaapveld M, Baas PC, Wiggers T, Jansen L (2010) The value of routine physical examination in the follow up of women with a history of early breast cancer. Eur J Cancer (in press)
28.
Zurück zum Zitat Sendağ F, Coşan Terek M, Ozşener S, Oztekin K, Bilgin O, Bilgen I et al (2001) Mammographic density changes during different postmenopausal hormone replacement therapies. Fertil Steril 76:445–450PubMedCrossRef Sendağ F, Coşan Terek M, Ozşener S, Oztekin K, Bilgin O, Bilgen I et al (2001) Mammographic density changes during different postmenopausal hormone replacement therapies. Fertil Steril 76:445–450PubMedCrossRef
Metadaten
Titel
Breast cancer screening in BRCA1 and BRCA2 mutation carriers after risk reducing salpingo-oophorectomy
verfasst von
Ingrid E. Fakkert
Liesbeth Jansen
Kees Meijer
Theo Kok
Jan C. Oosterwijk
Marian J. E. Mourits
Geertruida H. de Bock
Publikationsdatum
01.08.2011
Verlag
Springer US
Erschienen in
Breast Cancer Research and Treatment / Ausgabe 1/2011
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI
https://doi.org/10.1007/s10549-011-1423-4

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