{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["12(1)"],"submitter":["Rotolo M"],"pubmed_abstract":["We aimed to study the proportion of germline pathogenic variants (gPV) in hereditary cancer genes and the clinical-pathological characteristics, local and systemic treatments, pathological complete response (pCR) rate to neoadjuvant therapy, invasive breast cancer-free survival (IBCFS), and overall survival (OS) in triple-negative breast cancer (TNBC) patients, consecutively tested between 2017 and 2024 at Modena and Reggio Emilia University Hospital, Italy. A total of 387 early-stage patients were included in the study. Eighty-seven patients (22%) showed gPV in hereditary predisposing genes, mostly BRCA1/2 (11%), PALB2 (5%), RAD51C/D (2%), MUTYH (2%), ATM (1%), and others (1%). The proliferation index was high in all, whereas the most frequent stage was stage I/II, except in MUTYH gPV car"],"journal":["NPJ breast cancer"],"pagination":["13"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12804956"],"repository":["biostudies-literature"],"pubmed_title":["Clinical outcome and proportion of hereditary cancer genes gPV in TNBC: the HEaRTBeat study."],"pmcid":["PMC12804956"],"pubmed_authors":["Tenedini E","Gasparini E","Marcheselli L","Venturelli M","Piombino C","Tagliafico E","Domati F","Marchi I","Barbieri E","Cortesi L","Dominici M","Toss A","Civallero M","Razzaboni E","Rotolo M"],"additional_accession":[]},"is_claimable":false,"name":"Clinical outcome and proportion of hereditary cancer genes gPV in TNBC: the HEaRTBeat study.","description":"We aimed to study the proportion of germline pathogenic variants (gPV) in hereditary cancer genes and the clinical-pathological characteristics, local and systemic treatments, pathological complete response (pCR) rate to neoadjuvant therapy, invasive breast cancer-free survival (IBCFS), and overall survival (OS) in triple-negative breast cancer (TNBC) patients, consecutively tested between 2017 and 2024 at Modena and Reggio Emilia University Hospital, Italy. A total of 387 early-stage patients were included in the study. Eighty-seven patients (22%) showed gPV in hereditary predisposing genes, mostly BRCA1/2 (11%), PALB2 (5%), RAD51C/D (2%), MUTYH (2%), ATM (1%), and others (1%). The proliferation index was high in all, whereas the most frequent stage was stage I/II, except in MUTYH gPV car","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-06-10T05:27:26.2Z","creation":"2026-06-10T03:07:29.95Z"},"accession":"S-EPMC12804956","cross_references":{"pubmed":["41390750"],"doi":["10.1038/s41523-025-00877-x"]}}