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Hereditäres Mammakarzinom

Prädiktive Diagnostik und präventive Maßnahmen

  • Leitthema
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Der Onkologe Aims and scope

Zusammenfassung

Zirka 10–15% aller Mammakarzinome (MaCa) sind hereditär bedingt. BRCA1/2-Mutationen sind für ca. 3–8% aller und für 15–20% der familiären MaCa verantwortlich und zusätzlich mit einem deutlich erhöhten Ovarialkarzinom(OvCa)-Risiko assoziiert. Im Rahmen interdisziplinärer Tumorrisikosprechstunden können Frauen mit familiärer Belastung über das individuelle Mutationsträger- und Erkrankungsrisiko, Prävention und Früherkennung beraten werden. Bei Vorliegen der Einschlusskriterien kann eine genetische Analyse durchgeführt werden. Bei Mutationsnachweis werden unterschiedliche Optionen angeboten. Die Chemoprophylaxe sollte erst nach Abschluss der laufenden Studien diskutiert werden. Der Einsatz von oralen Kontrazeptiva zur Reduktion des OvCa-Risikos kann erwogen werden. Die prophylaktische Chirurgie zeigt eine deutliche Risikoreduktion, ist jedoch eine die körperliche Integrität beeinflussende Option. Intensivierte Früherkennungsprogramme konnten aktuell noch keine Mortalitätsreduktion für das MaCa von BRCA1/2-Mutationsträgerinnen aufzeigen. Sie sind jedoch aktuell die am wenigsten invasive und belastende Option.

Abstract

Of all breast cancer (BC) cases, 10–15% have a hereditary origin. BRCA1/2 mutations are responsible for 3–8% of all and 15–20% of familiar BC and are associated with increased risk for ovarian cancer (OC). In the context of interdisciplinary cancer genetic clinics, women at risk can be informed about risk for disease or gene carrier status, options for prevention, and specific early cancer detection. Women who fulfill the inclusion criteria can receive access to genetic testing. Several options can be offered to mutation carriers. The use of prophylactic medication/chemoprevention should be discussed after termination of ongoing studies. The use of oral contraceptives can be considered to reduce the risk of OC. Prophylactic surgery leads to an enormous decrease of risk, but it is an option which influences physical integrity. At present, it is not known if an individual benefit is derived from an intensified early cancer detection program for BRCA1/2 mutation carriers. However, it is the least invasive and stressful option compared to chemoprevention or prophylactic surgery and should be offered to women at risk.

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  1. Frauenklinik Universitätsklinikum Erlangen

    M. W. Beckmann & M. P. Lux

  2. Frauenklinik Universitätsklinikum Erlangen, Universitätsstraße 21–23, 91054, Erlangen

    M. W. Beckmann

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Correspondence to M. W. Beckmann.

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Beckmann, M.W., Lux, M.P. Hereditäres Mammakarzinom. Onkologe 10, 20–28 (2004). https://doi.org/10.1007/s00761-003-0631-x

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