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- W2610374616 abstract "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." @default.
- W2610374616 created "2017-05-12" @default.
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- W2610374616 date "2017-05-05" @default.
- W2610374616 modified "2023-10-16" @default.
- W2610374616 title "Synonymous mutation in <i>TP53</i> results in a cryptic splice site affecting its DNA‐binding site in an adolescent with two primary sarcomas" @default.
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- W2610374616 doi "https://doi.org/10.1002/pbc.26584" @default.
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