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Yeast As a Chassis for Developing Functional Assays to Study Human P53
Published on: August 4, 2019
Synonymous mutation in TP53 results in a cryptic splice site affecting its DNA-binding site in an adolescent with two
Frances Austin1, Usua Oyarbide1, Gita Massey1
1Division of Pediatric Hematology, Oncology, and Stem Cell Transplantation, Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, Virginia.
Abstract:
Pathologic variants in TP53 are known risk factors for the development of cancer. We report a 17-year-old male who presented with two primary sarcomas. Germline sequencing revealed a novel TP53 c.672 G>A mutation. Sequencing revealed wild-type TP53 in the parents, and there was no history of cancer in first-degree relatives. This de novo synonymous germline mutation results in a 5' cryptic splice site that is bound by U1, resulting in a shift of the splice site by 5 base pairs. The frame shift results in a truncated protein at residue 246, which disrupts the DNA-binding domain of p53.
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