Universität zu Köln

Hahnen, Eric and Meindl, Alfons (2020). Genetic principles of hereditary breast and ovarian cancer. Gynakologe, 53 (11). S. 726 - 734. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1433-0393

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Abstract

Current data underlines the importance of germline diagnostics for prevention, prognosis, and also the choice of therapy. Cost-effective sequencing methods in particular will further advance personalized medicine in gynecological oncology and lead to an improvement in the prevention and therapy of breast and ovarian cancer. This also applies to tumor genetics, which aims to detect therapy-relevant somatic mutations/epimutations that are restricted to tumor cells. In more than 25% of all patients who meet the extended inclusion criteria of the German Consortium for Familial Breast and Ovarian Cancer for genetic testing, germline mutations in BRCA1/2 or other risk genes are identified. An additional 20% reveal variants of unknown significance which require further evaluation. The detection of a family-specific germline mutation is the basis for the offer of risk-adjusted preventive measures to healthy female carriers of a family. In the course of personalized medicine, other genetic risk factors that modulate individual risk are increasingly being taken into account. The benefit of checkpoint inhibitors for the treatment of breast and ovarian cancer is currently being investigated. The establishment of clinical recommendations for patients with mutations in rarely altered genes requires prospective cohort studies to derive and evaluate a benefit for patients seeking advice. A germline analysis should therefore be embedded in a documentation and evaluation concept.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hahnen, Eric UNSPECIFIED UNSPECIFIED UNSPECIFIED Meindl, Alfons UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-315415
DOI:	10.1007/s00129-020-04696-y
Journal or Publication Title:	Gynakologe
Volume:	53
Number:	11
Page Range:	S. 726 - 734
Date:	2020
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1433-0393
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PATHOLOGICAL COMPLETE RESPONSE; GERMLINE MUTATIONS; SUSCEPTIBILITY; FREQUENCY; RISKS Multiple languages Obstetrics & Gynecology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/31541