Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing.

ABSTRACT: Genetic predisposition is an important risk factor for cancer in children and adolescents but detailed associations of individual genetic mutations to childhood cancer are still under intense investigation. Among pediatric cancers, sarcomas can arise in the setting of cancer predisposition syndromes. The association of sarcomas with these syndromes is often missed, due to the rarity and heterogeneity of sarcomas and the limited search of cancer genetic syndromes. This study included 43 pediatric and young adult patients with different sarcoma subtypes. Tumor profiling was undertaken using the Oncomine Childhood Cancer Research Assay (Thermo Fisher Scientific). Sequencing results were reviewed for potential germline alterations in clinically relevant genes associated with cancer predisposit

SUBMITTER: Alba-Pavon P 

PROVIDER: S-EPMC9941115 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature