Clinical outcomes of TP53 mutations in cancers

Ana I. Robles, Jin Jen, Curtis C. Harris

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


High-throughput sequencing of cancer genomes is increasingly becoming an essential tool of clinical oncology that facilitates target identification and targeted therapy within the context of precision medicine. The cumulative profiles of somatic mutations in cancer yielded by comprehensive molecular studies also constitute a fingerprint of historical exposures to exogenous and endogenous mutagens, providing insight into cancer evolution and etiology. Mutational signatures that were first established by inspection of the TP53 gene somatic landscape have now been confirmed and expanded by comprehensive sequencing studies. Further, the degree of granularity achieved by deep sequencing allows detection of low-abundance mutations with clinical relevance. In tumors, they represent the emergence of small aggressive clones; in normal tissues, they signal a mutagenic exposure related to cancer risk; and, in blood, they may soon become effective surveillance tools for diagnostic purposes and for monitoring of cancer prognosis and recurrence.

Original languageEnglish (US)
Article numbera026294
JournalCold Spring Harbor Perspectives in Medicine
Issue number9
StatePublished - Sep 2016

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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