Universität zu Köln

Hahnen, Eric, Kautz-Freimuth, Sibylle, Stock, Stephanie, Schmutzler, Rita and Rhiem, Kerstin (2022). Familial cancer. Gynakologie, 55 (6). S. 415 - 424. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 2731-7110

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Abstract

About 30% of all breast and ovarian cancer patients have a familial predisposition. In about one quarter of the women a mutation in a previously known risk gene is identified. The polygenic risk score (PRS) and nongenetic risk factors are also included in the individualized risk calculation. In the centers of the German Consortium (GC), only those genes for which there is sufficiently good evidence regarding an increased risk are examined and their results communicated in clinical care. For this purpose, these genes have been sufficiently tested with respect to the clinical validity, however, this is not sufficient for offering preventive measures in the context of standard care. For this there must be a clinical benefit, i.e. for the hard endpoints of mortality, morbidity and quality of life, there must be an advantage in utilizing the preventive measures. For all genes, except BRCA1 and BRCA2, the efficacy of risk-adapted preventive measures, such as intensified screening and prophylactic surgery, has not yet been sufficiently proven. As these data cannot usually be collected in prospective randomized trials the GC has introduced a concept for knowledge-generating care in the field of risk-adapted prevention. The aim is that the evidence-based prevention concept is offered and constantly evaluated in order to continuously adapt the concept, if necessary. For this purpose, progress monitoring and documentation within the prevention program is an indispensable prerequisite, e.g. in the database HerediCaRe. Another core concern of GC is to strengthen health literacy.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hahnen, Eric UNSPECIFIED UNSPECIFIED UNSPECIFIED Kautz-Freimuth, Sibylle UNSPECIFIED UNSPECIFIED UNSPECIFIED Stock, Stephanie UNSPECIFIED UNSPECIFIED UNSPECIFIED Schmutzler, Rita UNSPECIFIED UNSPECIFIED UNSPECIFIED Rhiem, Kerstin UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-661703
DOI:	10.1007/s00129-022-04950-5
Journal or Publication Title:	Gynakologie
Volume:	55
Number:	6
Page Range:	S. 415 - 424
Date:	2022
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	2731-7110
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language BREAST-CANCER; OVARIAN-CANCER; DECISION AIDS; MUTATION Multiple languages Obstetrics & Gynecology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/66170