Synonymous mutation in TP53 results in a cryptic splice site affecting its DNA‐binding site in an adolescent with two primary sarcomas
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.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- May 05, 2017
- Source ID
- 10.1002/pbc.26584
Entities
People
- Frances Austin
- Gita Massey
- Margaret Grimes
- Seth J Corey
- Usua Oyarbide
Organizations
- United States Department of Defense
- Virginia Commonwealth University