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Familiärer Brustkrebs – empirische Erkrankungsrisiken und Risikoberechnungsmodelle

Hereditary breast cancer: empirical disease risks and risk calculation programs

  • Schwerpunktthema: Familiärer Brust- und Eierstockkrebs
  • Published:
medizinische genetik

Zusammenfassung

BRCA1/2-Anlageträgerinnen haben ein stark erhöhtes Risiko an Brust- und Eierstockkrebs zu erkranken. Die individuelle klinische Betreuung erfordert eine genaue Kenntnis der Erkrankungsrisiken. In diesem Artikel geben wir einen Überblick über die aktuelle Literatur zu empirischen Erkrankungsrisiken, und wir beschreiben Berechnungsmodelle, die derzeit in der klinischen Praxis für die individuelle Risikoeinschätzung genutzt werden.

Die in der Literatur beschriebenen Erkrankungsrisiken zeigen eine große Variabilität zwischen verschiedenen Studien. Das Brustkrebsrisiko beträgt 40–87 % bei BRCA1- und 18–88 % bei BRCA2-Anlageträgerinnen. Für den Eierstockkrebs werden Risiken von 22–65 % bei BRCA1- und 10–35 % bei BRCA2-Anlageträgerinnen angegeben. Auch das kumulative Risiko für kontralateralen Brustkrebs 10 Jahre nach der Ersterkrankung ist mit 27 % (BRCA1) und 19 % (BRCA2) deutlich erhöht. Verschiedene Berechnungsmodelle erlauben eine individuelle Risikovorhersage, indem zusätzlich die jeweilige Familienanamnese, bekannte Hauptgene und ihr Erbgang sowie andere genetische und epidemiologische Risikofaktoren berücksichtigt werden. Durch nutzerfreundliche Programme können diese Modelle direkt in der humangenetischen und klinischen Beratung angewandt werden. Für die genaue Bestimmung von Erkrankungsrisiken sowie für die Validierung der Risikovorhersagemodelle sind prospektive Kohortenstudien von großer Bedeutung. Um Studien dieser Art zu ermöglichen, sollten Frauen mit erhöhtem Risiko im Rahmen von strukturierten Registerstudien betreut und prospektiv nachverfolgt werden.

Abstract

BRCA1/2 mutation carriers are at a considerably increased risk of developing breast and ovarian cancer. Their individual clinical management requires precise knowledge of the cancer risks. In this report we give an overview of the present literature on empirical cancer risks, and we describe risk prediction models currently being used for individual risk assessment in clinical practice.

Cancer risks show large variability between published studies. For breast cancer, the risks are at 40–87 % in BRCA1 carriers and 18–88 % in BRCA2 carriers. Ovarian cancer risks are in the range of 22–65 % in BRCA1 and 10–35 % in BRCA2 carriers. Carriers have the high risk of developing contralateral breast cancer risk (10-year risk after first cancer 27 % in BRCA1 and 19 % in BRCA2 carriers). Various risk prediction models allow individualized risk prediction using additional knowledge of family history, mode of inheritance of major genes and other genetic and non-genetic risk factors. User-friendly software tools have been developed to permit the application these models in family counseling units.

Prospective cohort studies are needed to further assess cancer risks and to validate prediction models. To enable such studies, the clinical management of carriers and other at-risk individuals should always be accompanied by standardized scientific documentation.

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Authors and Affiliations

  1. Institut für Medizinische Informatik, Statistik und Epidemiologie (IMISE), Universität Leipzig, Härtelstraße 16–18, 04107, Leipzig, Deutschland

    Christoph Engel & Silke Zachariae

  2. Institut für Humangenetik, Universität Heidelberg, Heidelberg, Deutschland

    Christine Fischer

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  1. Christoph Engel
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  2. Silke Zachariae
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  3. Christine Fischer
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Correspondence to Christoph Engel.

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C. Engel, S. Zachariae und C. Fischer geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Engel, C., Zachariae, S. & Fischer, C. Familiärer Brustkrebs – empirische Erkrankungsrisiken und Risikoberechnungsmodelle. medgen 27, 217–222 (2015). https://doi.org/10.1007/s11825-015-0043-5

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