Der Pathologe

, Volume 38, Issue 2, pp 117–126 | Cite as

BRCA-Diagnostik an Ovarialkarzinomen

Molekulare Tumortestung seit Einführung der PARP-Inhibitortherapie


Jährlich erkranken etwa 9000 Frauen in Deutschland neu am Ovarialkarzinom. Der häufigste Subtyp ist das seröse „High-grade“-Ovarialkarzinom. Ein Teil der Ovarialkarzinome ist assoziiert mit einer Mutation von BRCA1 oder BRCA2 („breast and ovarian cancer susceptibility gen“); dies sind hochpenetrante Tumorsuppressorgene mit autosomalem Erbgang und Schlüsselgene in der DNA-Reparatur. Im überwiegenden Prozentsatz liegt eine Keimbahnmutation vor, in einem geringeren Prozentsatz jedoch eine rein somatische BRCA-Mutation. BRCA1- oder BRCA2-mutierte Tumoren zeigen eine deutliche Verbesserung des progressionsfreien Überlebens unter einer Therapie mit Poly(Adenosindiphosphat-Ribose)-Polymerase(PARP)-Inhibitoren. Im Jahr 2015 wurde der erste PARP-Inhibitor für die Therapie des BRCA-mutierten rezidivierten serösen „High-grade“-Ovarialkarzinoms zugelassen. Die BRCA-Mutationsanalyse kann an formalinfixiertem paraffineingebettetem („formalin-fixed, paraffin-embedded“, FFPE) Tumorgewebe innerhalb weniger Tage durchgeführt werden.


DNA High-grade seröses Ovarialkarzinom Mutationsanalyse Olaparib FFPE-Material 

BRCA diagnostics of ovarian cancer

Molecular tumor testing since the introduction of PARP inhibitor therapy


Approximately 9000 women are diagnosed with ovarian cancer in Germany each year. The most common subtype is high-grade serous ovarian cancer. A relevant proportion of these tumors are associated with mutations in the breast and ovarian cancer susceptibility genes (BRCA1 and BRCA2) representing highly penetrant tumor suppressor genes with autosomal inheritance and play a crucial role in DNA repair mechanisms. These patients have predominantly germline mutations and less frequently have somatic BRCA mutations. Tumors harboring BRCA mutations show a significant improvement in progression-free survival under therapy with poly(adenosine diphosphate ribose) polymerase (PARP) inhibitors. In 2015 the first PARP inhibitor was approved for the therapy of high-grade serous ovarian cancer with BRCA mutations. Mutation analysis can be performed on formalin-fixed paraffin-embedded (FFPE) tumor tissue within a few days.


DNA High-grade serous ovarian cancer Mutational analysis Olaparib FFPE material 


Einhaltung ethischer Richtlinien


H. Löser, C. Heydt, R. Büttner und B. Markiefka geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.


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Copyright information

© Springer Medizin Verlag GmbH 2017

Authors and Affiliations

  • H. Löser
    • 1
  • C. Heydt
    • 1
  • R. Büttner
    • 1
  • B. Markiefka
    • 1
  1. 1.Institut für PathologieUniklinik KölnKölnDeutschland

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