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Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility.

Emilia M Pinto1, Cintia Fridman2, Bonald C Figueiredo3

  • 1Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.

HGG Advances
|October 5, 2023
PubMed
Summary

The common TP53 p.R337H mutation, prevalent in Brazil, is linked to increased cancer risk. This study identifies shared haplotypes across populations and reveals ancestral origins, highlighting the importance of genetic context in cancer predisposition.

Keywords:
BrazilIberian PeninsulaR337HSephardic JewishY-STRancestrycancer predispositionfounder mutationhaplotypemitochondrial DNA

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Area of Science:

  • Genetics
  • Cancer Biology
  • Population Genetics

Background:

  • The TP53 p.R337H variant is the most frequent germline TP53 mutation.
  • This mutation occurs at high frequency in Southeast Brazil as a founder mutation, linked to increased cancer risk.
  • Founder mutations are useful for tracing population history and genetic admixture.

Purpose of the Study:

  • To investigate the haplotype structure of the TP53 p.R337H mutation.
  • To identify additional TP53 p.R337H alleles and their geographic distribution.
  • To explore the ancestral origins of Brazilian carriers of the TP53 p.R337H founder mutation.

Main Methods:

  • Haplotype analysis of Brazilian, Portuguese, and Spanish families.
  • Identification of distinct TP53 p.R337H alleles.
  • Mitochondrial DNA sequencing and Y-STR profiling of Brazilian carriers.

Main Results:

  • A shared haplotype for TP53 p.R337H was identified among Brazilian, Portuguese, and Spanish families.
  • Three additional distinct TP53 p.R337H alleles were discovered.
  • Brazilian carriers showed Native American maternal lineages and European paternal lineages, indicating specific population admixture.

Conclusions:

  • The TP53 p.R337H mutation's haplotype is a crucial functional unit.
  • Associated variants in modifier genes and population-specific genetic background influence cancer risk.
  • Understanding founder mutations and their haplotypes is vital for cancer predisposition studies.