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Gene Symbol | TP53BP1 | ||||||||||
Synonyms | 53BP1 | p202 | p53BP1 | TDRD30 | ||||||||||
Gene Description | TP53BP1, tumor protein p53 binding protein 1, activates signaling in response to DNA damage, partly through activation of ATM (PMID: 12364621, PMID: 15279780) and plays a role regulation of DNA double-strand break repair pathway choice (PMID: 24326623, PMID: 24094932) and promoting double-strand break repair fidelity (PMID: 27348077, PMID: 31896689). Loss of TP53BP1 has been identified in triple-negative and BRCA-mutant breast cancer (PMID: 20453858), and TP53BP1 frameshift mutations have been identified in colon cancer (PMID: 28803425). | ||||||||||
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