title: [BRCA diagnostics of ovarian cancer : Molecular tumor testing since the introduction of PARP inhibitor therapy].
abstract: 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.
authors.affiliation: Institut für Pathologie, Uniklinik Köln, Kerpener Str. 62, 50937, Köln, Deutschland.
authors.forename: H
authors.initials: H
authors.lastname: Löser
authors.affiliation: Institut für Pathologie, Uniklinik Köln, Kerpener Str. 62, 50937, Köln, Deutschland.
authors.forename: C
authors.initials: C
authors.lastname: Heydt
authors.affiliation: Institut für Pathologie, Uniklinik Köln, Kerpener Str. 62, 50937, Köln, Deutschland.
authors.forename: R
authors.initials: R
authors.lastname: Büttner
authors.affiliation: Institut für Pathologie, Uniklinik Köln, Kerpener Str. 62, 50937, Köln, Deutschland. birgid.markiefka@uk-koeln.de.
authors.forename: B
authors.initials: B
authors.lastname: Markiefka
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D005858:Germany; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D000067856:Poly(ADP-ribose) Polymerase Inhibitors / Q000627:therapeutic use
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human; D000067856:Poly(ADP-ribose) Polymerase Inhibitors
keywords: DNA; FFPE material; High-grade serous ovarian cancer; Mutational analysis; Olaparib