Loeser, H., Heydt, C., Buettner, R. and Markiefka, B. (2017). BRCA diagnostics of ovarian cancer. Molecular tumor testing since the introduction of PARP inhibitor therapy. Pathologe, 38 (2). S. 117 - 126. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-1963

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Loeser, H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heydt, C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buettner, R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Markiefka, B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-238172
DOI: 10.1007/s00292-017-0274-0
Journal or Publication Title: Pathologe
Volume: 38
Number: 2
Page Range: S. 117 - 126
Date: 2017
Publisher: SPRINGER HEIDELBERG
Place of Publication: HEIDELBERG
ISSN: 1432-1963
Language: German
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
POLYMERASE INHIBITORS; HEREDITARY BREAST; GENES; IDENTIFICATION; LETHALITYMultiple languages
PathologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/23817

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