Evolution of germline TP53 variant classification in children with cancer.

ABSTRACT: Li-Fraumeni syndrome, caused by germline pathogenic variants in TP53, results in susceptibility to multiple cancers. Variants of uncertain significance (VUS) and reclassification of variants over time pose management concerns given improved survival with cancer surveillance for LFS patients. We describe the experience of TP53 variant reclassification at a pediatric cancer center.

Methods

We reviewed medical records (2010-2019) of 756 patients seen in Texas Children's Cancer Genetics Clinic. We noted initial TP53 classification and any reclassifications. We then classified TP53 variants following ClinGen TP53 variant curation expert panel recommendations using data from ClinVar, medical literature and IARC database.

Results

Of 234 patients tested for TP53, 27 (11.5%) reports c

SUBMITTER: Tallis E 

PROVIDER: S-EPMC9133135 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature