Nobue Takaiso

Interpreting TP53 pathogenic variants in germline testing and cancer genomics: pathogenicity, origin, and clinical actionability.

Next-generation sequencing has increased the sensitivity of pathogenic variant (PV) detection and enabled the quantitative assessment of variant allele fractions (VAFs) in clinical cancer genetics. However, these advances have exposed the limitations of equating molecular detection with a definitive germline diagnosis....