Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.

ABSTRACT: Existing guidance regarding clinically informed germline testing for patients with cancer is effective for evaluation of classic hereditary cancer syndromes and established gene/cancer type associations. However, current screening methods may miss patients with rare, reduced penetrance, or otherwise occult hereditary risk. Secondary finding of suspected germline variants that may confer inherited cancer risk via tumor comprehensive genomic profiling (CGP) has the potential to help address these limitations. However, reporting practices for secondary finding of germline variants are inconsistent, necessitating solutions for transparent and coherent communication of these potentially important findings. A workflow for improved confidence detection and clear reporting of potential pathogenic

SUBMITTER: Tung N 

PROVIDER: S-EPMC10421918 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature