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Article

Emerging insights into ethnic-specific TP53 germline variants.

Journal of the National Cancer Institute - 9 Oct 2023

Fischer Nicholas W, Ma Yu-Heng Vivian, Gariépy Jean

Abstract excerpt

The recent expansion of human genomics repositories has facilitated the discovery of novel TP53 variants in populations of different ethnic origins. Interpreting TP53 variants is a major clinical challenge because they are functionally diverse, confer highly variable predisposition to cancer (including elusive low-penetrance alleles), and interact with genetic modifiers that alter tumor susceptibility. Here, we...

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Identifiers

PMID: 37352403
DOI: 10.1093/jnci/djad106
PMCID: PMC10560603

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