Article
Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction Variants.
Molecular cancer research : MCR - 1 Feb 2022
Pinto Emilia M, Maxwell Kara N, Halalsheh Hadeel, Phillips Aaron, Powers Jacquelyn, MacFarland Suzanne, Walsh Michael F, Breen Kelsey, Formiga Maria N, Kriwacki Richard, Nichols Kim E, Mostafavi Roya, Wang Jinling, Clay Michael R, Rodriguez-Galindo Carlos, Ribeiro Raul C, Zambetti Gerard P
Abstract excerpt
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,...
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