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Familiärer Brust- und Eierstockkrebs – Prävention und Therapie

Familial breast and ovarian cancer—Prevention and treatment

  • Leitthema
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Die Gynäkologie Aims and scope

Zusammenfassung

Bei über 20 % aller Indexpatientinnen, welche die Kriterien des Deutschen Konsortiums Familiärer Brust- und Eierstockkrebs (DK) für die Keimbahnuntersuchung erfüllen, werden wahrscheinlich pathogene/pathogene Varianten (PV) in bekannten Risikogenen identifiziert. Bei Nachweis einer PV kann gesunden Frauen einer Familie eine prädiktive Untersuchung angeboten werden. Zunehmend finden im Zuge der personalisierten Medizin auch weitere genetische („polygenic risk scores“, PRSs) und nichtgenetische Risikofaktoren Beachtung (Lebensstil, hormonelle und reproduktive Faktoren, mammographische Dichte), die das individuelle Erkrankungsrisiko erheblich modulieren können. Dadurch wird eine personalisierte Risikoprädiktion möglich. Bei Frauen ohne Krebserkrankung kann das Angebot einer risikoadaptierten Prävention (Teilnahme an der intensivierten Brustkrebsfrüherkennung) dem individuellen Risiko angepasst werden. Die individualisierte Prävention erfordert prospektive Kohortenstudien, um einen Nutzen für Ratsuchende zu evaluieren. Die Analysen sollten daher in ein wissengenerierendes Dokumentations- und Evaluationskonzept eingebettet sein. Um der gestiegenen Komplexität zu begegnen, wurden für Betroffene verschiedene Informationsmaterialien in Einfacher bzw. Leichter Sprache entwickelt. Außerdem unterstützen Entscheidungshilfen und ein Entscheidungscoaching Frauen mit pathogenen Varianten in den Genen BRCA1 und BRCA2 bei der Entscheidungsfindung hinsichtlich präventiver Maßnahmen.

Abstract

In more than 25% of all index patients who fulfil the criteria of the German Consortium of Familial Breast and Ovarian Cancer (DK) for germline testing, possible pathogenic or pathogenic germline variants (PV) in known risk genes are identified. If a germline PV is detected healthy women in a family can be offered predictive testing. In the course of personalized medicine other genetic (polygenic risk scores, PRS) and nongenetic risk factors (lifestyle, hormonal and reproductive factors, mammographic density) are increasingly receiving attention, which can significantly modulate the individual risk of disease. In this way a personalized risk prediction is possible. In healthy women the offer of risk-adapted prevention (participation in an intensified breast cancer screening) can be adjusted to the individual risk. The individualized prevention requires prospective cohort studies to evaluate a benefit for women seeking advice. The analyses should therefore be embedded in a knowledge-generating documentation and evaluation concept. Various materials for those affected have been developed in simple or plain language to address the increased complexity. In addition, patient decision aids and decision coaching support carriers of PVs in the BRCA1 and BRCA2 genes in making decisions with respect to preventive measures.

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Authors and Affiliations

  1. Zentrum Familiärer Brust- und Eierstockkrebs, Centrum für Integrierte Onkologie, Universitätsklinikum Köln, CIO – Gebäude 70, Kerpener Str. 62, 50937, Köln, Deutschland

    Kerstin Rhiem, Anja Tüchler, Rita Schmutzler & Eric Hahnen

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  1. Kerstin Rhiem
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  2. Anja Tüchler
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Correspondence to Kerstin Rhiem.

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Interessenkonflikt

K. Rhiem, A. Tüchler, R. Schmutzler und E. Hahnen geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autor/-innen keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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Tanja Fehm, Düsseldorf

Nicolai Maass, Kiel

Wolfgang Janni, Ulm

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Für diesen Beitrag wurden Textauszüge aus https://doi.org/10.1007/s00129-023-05163-0 verwendet.

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Rhiem, K., Tüchler, A., Schmutzler, R. et al. Familiärer Brust- und Eierstockkrebs – Prävention und Therapie. Gynäkologie 57, 265–272 (2024). https://doi.org/10.1007/s00129-024-05222-0

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