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Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

Archives of gynecology and obstetrics - 1 May 2017

Meisel Cornelia, Sadowski Carolin Eva, Kohlstedt Daniela, Keller Katja, Stäritz Franziska, Grübling Nannette, Becker Kerstin, Mackenroth Luisa, Rump Andreas, Schröck Evelin, Arnold Norbert, Wimberger Pauline, Kast Karin

Abstract excerpt

BACKGROUND: Determination of mutation status of BRCA1 and BRCA2 has become part of the clinical routine. However, the spectrum of genetic variants differs between populations. The aim of this study was to deliver a comprehensive description of all detected variants. METHODS: In families fulfilling one of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) criteria for genetic testing, one...

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Identifiers

PMID: 28324225
DOI: 10.1007/s00404-017-4330-z

Genes

BRCA1
BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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