Article
Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification.
EBioMedicine - 1 Apr 2026
Fortuno Cristina, Zhang Jia, Koufariotis Lambros T, Hollway Georgina, Wood Scott, Pearson John V, Simpson Peter T, Lakhani Sunil R, McCart Reed Amy E, Thorne Heather, Mann G Bruce, Skandarajah Anita R, Devereux Lisa, Zhao Qihong, De Silva Dilanka L, Lindeman Geoffrey J, Waring Paul, James Paul A, Campbell Ian, Spurdle Amanda B, Waddell Nicola
Abstract excerpt
BACKGROUND: Pathogenic germline variants in certain genes are associated with somatic tumour mutation signatures. The use of somatic tumour mutation data has the potential to improve the identification of true pathogenic variants but remains underexplored. We investigated the integration of tumour homologous recombination (HR) deficiency status as a predictor of pathogenicity for germline BRCA1 and BRCA2...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.