Universität zu Köln

Hauke, Jan, Engel, Christoph ORCID: 0000-0002-7247-282X, Wappenschmidt, Barbara, Mueller, Clemens R. and Hahnen, Eric (2015). Classification of variants of unknown significance (VUS) in hereditary breast and ovarian cancer. Med. Genet., 27 (2). S. 211 - 217. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

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Abstract

In the coming years, procedures based on next-generation sequencing (NGS) in genetic routine diagnostics will lead to a tremendous increase in the number of identified variants of unknown significance (VUS) whose relevance for the analysed phenotype has to be determined. Classification of VUS, especially in non-BRCA1/2 genes, will become one of the key challenges in diagnostics of hereditary tumor predisposition disorders. These can be overcome by international scientific cooperation. Therefore, the German consortium of hereditary breast and ovarian cancer (GC-HBOC) applies the internationally accepted IARC 5-class system and cooperates with numerous international consortia and working groups for the classification of infrequent variants and variants in new risk genes. Prediction programs can be valuable tools for classification of variants especially in the context of NGS-based research projects dealing with large amounts of data. In a diagnostic setting, the classification of variants should not be solely based on in-silico prediction tools.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hauke, Jan UNSPECIFIED UNSPECIFIED UNSPECIFIED Engel, Christoph UNSPECIFIED orcid.org/0000-0002-7247-282X UNSPECIFIED Wappenschmidt, Barbara UNSPECIFIED UNSPECIFIED UNSPECIFIED Mueller, Clemens R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hahnen, Eric UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-397351
DOI:	10.1007/s11825-015-0049-z
Journal or Publication Title:	Med. Genet.
Volume:	27
Number:	2
Page Range:	S. 211 - 217
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 CLINICAL-SIGNIFICANCE; SEQUENCE VARIANTS; BRCA1; MUTATIONS; RISK; RECOMMENDATIONS; PREDICTION Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/39735