Review
Open access
Sep 2026
Interpreting TP53 pathogenic variants in germline testing and cancer genomics: pathogenicity, origin, and clinical actionability.
An origin-aware, three-layer framework comprising variant pathogenicity assessment, origin attribution, and clinical actionability is proposed to support proportionate surveillance, cascade testing, and shared decision-making.
I. Imoto, Nobue Takaiso, A. Yoshimura
· Japanese Journal of Clinical... · 0 citations