Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

ABSTRACT: Hereditary breast and ovarian cancer (HBOC) is one of the most frequent genetic cancer predisposition syndromes. Individuals at risk are identified mainly by family history and histopathological criteria. The current standard genetic testing is exome or panel sequencing. However, many high-risk families remain genetically unexplained. Genome sequencing has the potential to increase the diagnostic yield. This single-center real-world study aims to evaluate advantages of short-read genome sequencing (GS) in HBOC families. We report genome sequencing results of 818 index patients, who fulfilled clinical criteria for genetic testing. Data analysis showed less sequencing gaps and a more uniform coverage compared to a large cohort of in-house exomes. Samples were sequenced at an average depth of

SUBMITTER: Witt D 

PROVIDER: S-EPMC12150180 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature