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Risikoadaptierte Früherkennung

Schwerpunkt: Familiärer Brust- und Eierstockkrebs

Risk-adapted surveillance

Focus on familial breast and ovarian cancer

  • Leitthema
  • Published:
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz Aims and scope

Zusammenfassung

Die für Frauen der Allgemeinbevölkerung ohne ein familiär erhöhtes Brustkrebsrisiko zur Verfügung stehenden Brustkrebsfrüherkennungsuntersuchungen sind für die kleine Gruppe der Frauen mit einer erblichen Belastung für Brust- und Eierstockkrebs nicht ausreichend. Das Mammographie-Screening zur Früherkennung von Brustkrebs beginnt in Deutschland mit dem 50. Lebensjahr. Zu diesem Zeitpunkt ist ein Großteil der genetisch belasteten Frauen bereits erkrankt. Zudem ist die Röntgenmammographie als alleiniges Screening-Verfahren aufgrund des jungen Ersterkrankungsalters von Frauen aus belasteten Familien ungeeignet, da sie bei der typischen Parenchymdichte der jungen Brust eine hohe Rate falsch negativer Befunde aufweist. Daher wurden national durch das „Deutsche Konsortium für Familiären Brust- und Eierstockkrebs“ und auch international prospektive Interventionsstudien initiiert, in deren Rahmen BRCA-Mutationsträgerinnen und Frauen mit einem genetisch erhöhten Risiko und ohne BRCA-Mutationsnachweis eine intensivierte, multimodale Brustkrebsfrüherkennung angeboten wird. Diese wird in Deutschland derzeit in 15 spezialisierten Zentren des „Deutschen Konsortiums für Familiären Brust- und Eierstockkrebs“ unter Einbezug der Magnetresonanztomographie mit engmaschigeren Screening-Intervallen und einem vorgezogenen Beginn prospektiv evaluiert.

Abstract

Breast cancer surveillance programs for the general population are not adequate for the small number of women with hereditary breast and ovarian cancer syndrome. Breast cancer screening for women in Germany starts at the age of 50 years, but nearly half of all women with familial risk are already diagnosed with breast cancer at that time. Moreover, mammography alone is not suitable for an early diagnosis of breast cancer in young women from high-risk families. Their typical dense breast tissue causes a high rate of false-negative cases. Therefore, national and international prospective clinical trials were initiated to offer a multimodal breast cancer surveillance program including magnetic resonance tomography for the breast and semi-annual screening intervals to women with BRCA1/2 mutations and those from high-risk families who tested negative for BRCA1/2 mutations. This program will currently be evaluated by the 15 centers of the German Consortium for Hereditary Breast and Ovarian Cancer.

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Literatur

  1. „Krebs in Deutschland 2007/2008“ des Robert Koch-Instituts (Stand 02.07.2012). http://www.rki.de/DE/Content/Gesundheitsmonitoring/Krebsregisterdaten/krebs_node.html

  2. Ford D, Easton DF, Stratton M, Narod S et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The breast cancer linkage consortium. Am J Hum Genet 62:676–689

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  3. Antoniou A, Pharoah PD, Narod S 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 72:1117–1130

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  4. Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71

    Article  CAS  PubMed  Google Scholar 

  5. Wooster R, Bignell G, Lancaster J et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789–792

    Article  CAS  PubMed  Google Scholar 

  6. Antoniou AC, Cunningham AP, Peto J et al (2008) The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer 98:1457–1466

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  7. Warner E, Plewes DB, Shumak RS et al (2001) Comparison of breast magnetic resonance imaging, mammography, and ultrasound for surveillance of women at high risk for hereditary breast cancer. J Clin Oncol 19:3524–3531

    CAS  PubMed  Google Scholar 

  8. Foulkes WD, Stefansson IM, Chappuis PO et al (2003) Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst 95:1482–1485

    Article  CAS  PubMed  Google Scholar 

  9. Lakhani SR, Reis-Filho JS, Fulford L et al (2005) Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res 11:5175–5180

    Article  CAS  PubMed  Google Scholar 

  10. Honrado E, Benitez J, Palacios J (2005) The molecular pathology of hereditary breast cancer: genetic testing and therapeutic implications. Mod Pathol 18:1305–1320

    Article  CAS  PubMed  Google Scholar 

  11. Robson ME, Chappuis PO, Satagopan J et al (2004) A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Res 6:R8–R17

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  12. Graeser MK, Engel C, Rhiem K et al (2009) Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 27:1–6

    Article  Google Scholar 

  13. Rhiem K, Engel C, Graeser M et al (2012) The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study. Breast Cancer Res 14:R156

    Article  PubMed  Google Scholar 

  14. Kuhl CK, Schmutzler RK, Leutner CC, Kempe A et al (2000) Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results. Radiology 215:267–279

    Article  CAS  PubMed  Google Scholar 

  15. Schmutzler RK, Rhiem K, Breuer P et al (2006) Outcome of a structured surveillance programme in women with familial predisposition for breast cancer. Eur J Cancer Prev 15(6):483–489

    Article  PubMed  Google Scholar 

  16. Brown J, Buckley D, Coulthard A et al (2000) Magnetic resonance imaging screening in women at genetic risk of breast cancer: imaging and analysis protocol for the UK multicentre study. UK MRI Screening Study Advisory Group. Magn Reson Imaging 18:765–776

    Article  CAS  PubMed  Google Scholar 

  17. Stoutjesdijk MJ, Boetes C, Jager GJ et al (2001) Magnetic resonance imaging and mammography in women with a hereditary risk of breast cancer. J Natl Cancer Inst 93:1095–1102

    Article  CAS  PubMed  Google Scholar 

  18. Tilanus-Linthorst M, Verhoog L, Obdeijn IM et al (2002) A BRCA1/2 mutation, high breast density and prominent pushing margins of a tumour independently contribute to a frequent false-negative mammography. Int J Cancer 102:91–95

    Article  CAS  PubMed  Google Scholar 

  19. Kriege M, Brekelmans CT, Boetes C et al (2004) Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 351:427–500

    Article  CAS  PubMed  Google Scholar 

  20. Leach MO, Boggis CR, Dixon AK 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 365:1769–1778

    Article  CAS  PubMed  Google Scholar 

  21. Meindl A, Ditsch N, Kast K et al (2011) Hereditary breast and ovarian cancer: new genes, new treatments, new concepts. Dtsch Arztebl Int 108:323–330

    PubMed Central  PubMed  Google Scholar 

  22. NICE clinical guideline 41, Familial breast cancer. http://www.nice.org.uk/CG041

  23. o A (2002) Breast Cancer Screening/IARC Working Group on the evaluation of cancer preventive strategies. IARC Press, Lyon

  24. Gotzsche PC, Nielsen M (2011) Screening for breast cancer with mammography. Cochrane Database Syst Rev 1

  25. Mandelblatt JS et al (2009) Effects of mammographicy screening under different screening schedules: model estimates of potential benefits and harms. Ann Intern Med 151:738–747

    Article  PubMed Central  PubMed  Google Scholar 

  26. Hall MJ, Reid JE, Wenstrup RJ (2010) Prevalence of BRCA1 and BRCA2 mutations in women with breast carcinoma in situ and referred for genetic testing. Cancer Prev Res 3:1579–1585

    Article  Google Scholar 

  27. Bayraktar S, Esayegh N, Gutierrez Barrera AM et al (2012) Predictive factors for BRCA1/2 mutations in women with ductal carcinoma in situ. Cancer 118:1515–1522

    Article  CAS  PubMed  Google Scholar 

  28. Rhiem K, Flucke U, Schmutzler RK (2006) BRCA1-associated breast carcinomas frequently present with benign sonographic features. AJR Am J Roentgenol 186:E11–E12

    Article  PubMed  Google Scholar 

  29. Meijers-Heijboer H, Geel B van, Putten WL van et al (2001) Breast cancer after prophylactic bilateral mastectomy in women with BRCA1 and BRCA2 mutation. N Engl J Med 345:159–164

    Article  CAS  PubMed  Google Scholar 

  30. Rebbeck TR, Friebel T, Lynch HT (2004) Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers. The PROSE Study Group. J Clin Oncol 22:1055–1062

    Article  PubMed  Google Scholar 

  31. Bosse K, Rhiem K, Wappenschmidt B et al (2006) Screening for ovarian cancer by trans-vaginal ultrasound and serum CA125 measurement in women with familial pre-disposition; a prospective cohort study. Gynecol Oncol 1033:1077–1082

    Article  Google Scholar 

  32. Kauff ND, Satagopan JM, Robson ME et al (2002) Risk reducing Salpingo-oophorectomy in women with BRCA1 and BRCA2 mutation. N Engl J Med 346:1609–1615

    Article  PubMed  Google Scholar 

  33. Domchek SM, Friebel TM, Singer CF et al (2010) Association of risk-reducing surgery in BRCA1 and BRCA2 mutation carriers with cancer risk and mortality. JAMA 304:967–975

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  34. Evans DG, Shenton A, Woodward E et al (2008) Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a clinical cancer genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family. BMC Cancer 8:155

    Article  PubMed Central  PubMed  Google Scholar 

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Danksagung

Unser Dank gilt der Deutschen Krebshilfe e.V. für die langjährige Förderung und den Mitarbeiterinnen und Mitarbeitern der Zentren für Familiären Brust- und Eierstockkrebs des Deutschen Konsortiums.

Einhaltung ethischer Richtlinien

Interessenkonflikt. R.K. Schmutzler weist auf folgende Beziehung hin: Beratungstätigkeit Astra Zeneca. K. Rhiem weist auf folgende Beziehung hin: Beratungstätigkeit Astra Zeneca.

Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren. Alle im vorliegenden Manuskript beschriebenen Untersuchungen am Menschen wurden mit Zustimmung der zuständigen Ethik-Kommission, im Einklang mit nationalem Recht sowie gemäß der Deklaration von Helsinki von 1975 (in der aktuellen, überarbeiteten Fassung) durchgeführt. Von allen beteiligten Patienten liegt eine Einverständniserklärung vor.

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  1. Direktorin des Zentrums für Familiären Brust- und Eierstockkrebs, Universitätsklinikum Köln, Kerpener Str. 34, 50931, Köln, Deutschland

    K. Rhiem &  R.K. Schmutzler

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  1. K. Rhiem
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  2. R.K. Schmutzler
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Correspondence to R.K. Schmutzler.

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Rhiem, K., Schmutzler, R. Risikoadaptierte Früherkennung. Bundesgesundheitsbl. 57, 307–311 (2014). https://doi.org/10.1007/s00103-013-1910-3

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  • DOI: https://doi.org/10.1007/s00103-013-1910-3

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