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Article

Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients.

European journal of human genetics : EJHG - 1 Aug 2023

Henkel Jan, Laner Andreas, Locher Melanie, Wohlfrom Tobias, Neitzel Birgit, Becker Kerstin, Neuhann Teresa, Abicht Angela, Steinke-Lange Verena, Holinski-Feder Elke

Abstract excerpt

Here we report the results of a retrospective germline analysis of 6941 individuals fulfilling the criteria necessary for genetic testing of hereditary breast- and ovarian cancer (HBOC) according to the German S3 or AGO Guidelines. Genetic testing was performed by next-generation sequencing using 123 cancer-associated genes based on the Illumina TruSight® Cancer Sequencing Panel. In 1431 of 6941 cases (20.6%) at...

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Identifiers

PMID: 37188824
DOI: 10.1038/s41431-023-01380-2
PMCID: PMC10400578

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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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