Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.

ABSTRACT: The development of multiple primary tumors is one of the hallmarks of hereditary cancer. The phenotypic presentation of individuals with multiple primary tumors is often heterogeneous, which hampers the establishment of a genetic diagnosis. The absence of a genetic diagnosis may lead to inappropriate surveillance advices and treatment choices. The aim of this study was to investigate whether whole-exome sequencing (WES) and variant prioritization in all genes associated with cancer predisposition can identify pathogenic variants that explain the phenotypes of individuals who developed multiple primary tumors. Here, we report the findings of exome-based cancer predisposition gene testing in individuals (n = 72) who presented with multiple primary tumors (both malignant and benign) before th

SUBMITTER: Hinic S 

PROVIDER: S-EPMC12185683 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature