Universität zu Köln

Meindl, Alfons, Ramser, Juliane, Hauke, Jan and Hahnen, Eric (2015). Genetic aspects of hereditary breast and ovarian cancer: options and limits. Med. Genet., 27 (2). S. 202 - 210. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

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Abstract

Recent studies have documented the genetic heterogeneity of familial breast and ovarian cancer. In addition to BRCA1 and BRCA2, more than 20 risk genes for hereditary breast and ovarian cancer, explaining about one third of familial cases, have been identified so far. Additionally, polygenic factors have been discovered that may explain about 16 % of the genetic burden of BRCA1/2-negative cases. Today, routine diagnostics using gene panels in addition to BRCA1/2 testing is already offered in many countries, but sufficient information is available for only a few of the genes analyzed. Therefore, the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) compiled the TruRisk (TM) 34-gene panel, which contains 10 so-called core genes (ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, RAD51C, RAD51D, TP53) in addition to 24 candidate genes. For members of the GC-HBOC, the analysis of the 10 core genes is obligatory. In addition to the TruRisk (TM) panel, several other gene panels are commercially available, e.g., the TruSight Cancer Panel (Illumina), which covers 94 genes, or the BRCA Hereditary Cancer MASTR(TM) Plus (Multiplicom) and Myriad MyRisk(TM) (Myriad Genetics), which comprise 26 genes each. All these gene panels include the core genes and are also applied in Germany.The use of panel diagnostics in the setting of molecular genetic testing for tumor predisposition disorders allows a reliable and flexible analysis of relevant risk factors. In contrast, exome or even whole genome sequencing is a powerful method of identifying further candidates quickly and cheaply. However, the determination of clinical consequences for mutations in novel genes requires comprehensive national and international validation studies.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Meindl, Alfons UNSPECIFIED UNSPECIFIED UNSPECIFIED Ramser, Juliane UNSPECIFIED UNSPECIFIED UNSPECIFIED Hauke, Jan UNSPECIFIED UNSPECIFIED UNSPECIFIED Hahnen, Eric UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-397348
DOI:	10.1007/s11825-015-0048-0
Journal or Publication Title:	Med. Genet.
Volume:	27
Number:	2
Page Range:	S. 202 - 210
Date:	2015
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1863-5490
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GERMLINE MUTATIONS; SUSCEPTIBILITY LOCI; FAMILY-HISTORY; FALLOPIAN-TUBE; EARLY-ONSET; RISK; VARIANTS; PALB2; PATIENT; RAD51D Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/39734