Multiple Primary Cancers as an Independent Criterion for Germline Testing: Comparison with Guideline-Based Criteria.

ABSTRACT: Background: Multiple primary cancers (MPCs) often indicate an underlying hereditary predisposition. Current genetic testing guidelines mainly target specific cancer types, potentially missing MPC patients who do not meet these criteria. This study evaluated the utility of MPCs as an independent criterion for germline genetic testing by comparing the pathogenic variant (PV) diagnostic yields of guideline-based and MPC-based testing. Methods: Between June 2022 and June 2023, we prospectively enrolled 62 patients diagnosed with two or more pathologically confirmed primary cancers. Patients were classified into a Guideline group (n = 29), which met NCCN/ACMG testing criteria, and a Non-Guideline group (n = 33) classified solely on the MPC status. Germline testing wa

SUBMITTER: Shin K 

PROVIDER: S-EPMC12565061 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature