Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.

ABSTRACT: Translocation-associated sarcomas (TAS) are rare, phenotypically heterogeneous, with predisposition for young adults. We aimed to investigate the clinical impact of germline pathogenic/likely pathogenic (P/LP) variants in a diverse group of TAS and to conduct a comprehensive comparative analysis of clinicopathologic features, genomic alterations, and survival outcomes. A retrospective cohort of 426 TAS patients with both tumor and germline DNA sequencing was investigated for clinical actionability of P/LP variants, and potential impact on current screening guidelines and clinical interventions. Twenty-eight patients (6.6%) carried Tier 1 germline P/LP variants (moderate to high penetrance autosomal dominant (AD) variants), while 27 (6.3%) patients carried Tier 2 variants (monoallelic autos

SUBMITTER: Saoud C 

PROVIDER: S-EPMC12059086 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature