Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction Variants.

ABSTRACT: Germline TP53 splicing variants are uncommon, and their clinical relevance is unknown. However, splice-altering variants at exon 4-intron 4 junctions are relatively enriched in pediatric adrenocortical tumors (ACT). Nevertheless, family histories of cancer compatible with classic Li-Fraumeni syndrome are rarely seen in these patients. We used conventional and in silico assays to determine protein stability, splicing, and transcriptional activity of 10 TP53 variants at exon 4-intron 4 junctions and analyzed their clinical correlates. We reviewed public databases that report the impact of TP53 variants in human cancer and examined individual reports, focusing on family history of cancer. TP53 exon 4-intron 4 junction germline variants were identified in 9 o

SUBMITTER: Pinto EM 

PROVIDER: S-EPMC8816887 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature