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CC BY-NC-ND 4.0 · Geburtshilfe Frauenheilkd 2020; 80(09): 932-940
DOI: 10.1055/a-1222-0042
DOI: 10.1055/a-1222-0042
GebFra Science
Original Article/Originalarbeit
Prävalenz von BRCA1- und BRCA2-Mutationen bei Patientinnen mit primärem Ovarialkarzinom – bildet die deutsche Checkliste zur Erfassung des Risikos für erblichen Brust- und Eierstockkrebs den Beratungsbedarf ausreichend ab?
Article in several languages: English | deutsch
Zusammenfassung
Hintergrund BRCA1/2-Mutationen sind die Hauptursache für erbliche epitheliale Ovarialkarzinome (EOC). Das Deutsche Konsortium für Familiären Brust- und Eierstockkrebs hat Einschlusskriterien definiert, welche als Checkliste abrufbar sind und Betroffenen mit einer Mutationswahrscheinlichkeit von ≥ 10% eine genetische Beratung/Testung ermöglichen. Unser Ziel war es, die Prävalenz der BRCA1/2-Mutation(en) auf Basis des Checklisten-Scores (CLS) zu evaluieren.
Methoden Es erfolgte eine retrospektive Datenanalyse von EOC-Patientinnen mit Primärdiagnose, die zwischen 1/2011 – 5/2019 an den Kliniken Essen-Mitte behandelt wurden und für die ein BRCA1/2-Genanalyse-Ergebnis und ein CLS vorlag. Von 545 Fällen mit BRCA1/2-Ergebnis (Kohorte A) lag in 453 Fällen zusätzlich ein erweitertes Gen-Panel-Ergebnis (Kohorte B) vor.
Ergebnisse In 23,3% (127/545) wurde in Kohorte A eine BRCA1/2-Mutation festgestellt, in Kohorte B zeigten sich bei weiteren 6,2% pathogene Mutationen in Nicht-BRCA1/2-Genen. In Kohorte A hatten 23,3% (127/545) der Patienten eine BRCA1- (n = 92) oder BRCA2- (n = 35) Mutation. Ein singuläres EOC (CLS 2) lag in 40,9% vor. Die Prävalenz für eine BRCA1/2-Mutation in Kohorte A betrug 10,8%, 17,2%, 25,0%, 35,1%, 51,4% und 66,7% für Patienten mit CLS 2, 3, 4, 5, 6 bzw. ≥ 7. Die Mutationsprävalenz in Kohorte B betrug 15,9%, 16,4%, 28,2%, 40,4%, 44,8% und 62,5% für Patienten mit CLS 2, 3, 4, 5, 6 bzw. ≥ 7.
Schlussfolgerungen Die BRCA1/2-Mutationsprävalenz bei EOC-Patienten korreliert positiv mit steigendem Checklisten-Score. Bereits beim singulärem EOC überschreitet die Prävalenz einer BRCA1/2-Mutation die geforderte 10%-Schwelle. Unsere Daten unterstützen die Empfehlung der S3-Leitlinie Ovarialkarzinom, allen Patientinnen mit EOC eine genetische Testung anzubieten. Eine Optimierung der Checkliste mit eindeutiger Kennzeichnung der Testungsindikation in dieser Population ist daher anzustreben.
Schlüsselwörter
Ovarialkarzinom - BRCA-Mutation - hereditäres Mamma- und Ovarialkarzinom - Erblichkeits-ChecklistePublication History
Received: 01 April 2020
Accepted after revision: 14 July 2020
Article published online:
02 September 2020
© 2020. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Georg Thieme Verlag KG
Stuttgart · New York
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