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Emerging insights into ethnic-specific TP53 germline variants.

Nicholas W Fischer1,2, Yu-Heng Vivian Ma1, Jean Gariépy1,2,3

  • 1Physical Sciences, Sunnybrook Research Institute, Toronto, ON, Canada.

Journal of the National Cancer Institute
|June 23, 2023
PubMed
Summary

Ethnic-specific TP53 variants influence cancer risk and treatment. Understanding these genetic variations across ancestries is key to personalized cancer risk assessment and management.

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Area of Science:

  • Genomics
  • Cancer Genetics
  • Population Genetics

Background:

  • Interpreting novel TP53 variants is clinically challenging due to functional diversity and variable cancer predisposition.
  • Germline TP53 mutations interact with genetic modifiers, altering cancer susceptibility.
  • Human genomics repositories have expanded, enabling discovery of TP53 variants in diverse ethnic groups.

Approach:

  • Reviewed genotype-phenotype studies.
  • Performed integrative analysis of functional and sequencing datasets.
  • Examined ethnic-specific TP53 variant landscapes and their functional consequences.

Key Points:

  • Each ancestry exhibits a distinct TP53 variant landscape with enriched ethnic-specific alleles.
  • Low-penetrance variants like P47S (African), G334R (Ashkenazi Jewish), and rs78378222 (Icelandic) offer insights into cancer risk and therapy.
  • Infrequent variants (e.g., D49H in East Asians, R181H in Europeans) linked to milder phenotypes may be underdiagnosed.

Conclusions:

  • Sequencing and functional analysis of ethnic TP53 variants, alongside modifier interactions, are improving cancer susceptibility understanding.
  • Emerging tools like CRISPR screens and AI are enhancing personalized cancer risk assessments.
  • Ethnic-specific TP53 variants are crucial for refining cancer risk management and therapeutic strategies.