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 highl...

Full description

Saved in:
Bibliographic Details
Published in:Der Pathologe 2017-03, Vol.38 (2), p.117-126
Main Authors: Löser, H, Heydt, C, Büttner, R, Markiefka, B
Format: Article
Language:ger
Subjects:
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Female
Germ-Line Mutation
Germany
Humans
Mutation
Ovarian Neoplasms - diagnosis
Ovarian Neoplasms - genetics
Poly(ADP-ribose) Polymerase Inhibitors - therapeutic use
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1432-1963
DOI:10.1007/s00292-017-0274-0