ArticlePloS one2015
Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Reconstructing the Origin and Demographic Expansion of the TP53 p.R337H Founder Variant in Brazil.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.Scientific reports · 2025Article
- Transmission ratio distortion of germline TP53 variants in Li-Fraumeni syndrome families.Cancer · 2025Article
- Germline TP53 p.R337H and XAF1 p.E134* Variants: Prevalence in Paraguay and Comparison with Rates in Brazilian State of Paraná and Previous Findings at the Paraguayan-Brazilian Border.Current oncology (Toronto, Ont.) · 2025Article
- Personalized screening strategies forLancet regional health. Americas · 2025Article
- BRCA2 and TP53 Mutations in a Breast Cancer Patient: A Case Report and Review of the Literature.Cureus · 2024Article
- Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.Breast cancer research and treatment · 2024Article
- Article
- Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients.BMC cancer · 2020Article
- Review
- TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence.Molecular genetics & genomic medicine · 2020Article
- Penetrance of theCancers · 2019Article
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Authors and funding
8 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare germline mutations in TP53 (17p13.1) cause a highly penetrant predisposition to a specific spectrum of early cancers, defining the Li-Fraumeni Syndrome (LFS). A germline mutation at codon 337 (p.Arg337His, c1010G>A) is found in about 0.3% of the population of Southern Brazil. This mutation is associated with partially penetrant LFS traits and is found in the germline of patients with early cancers of the LFS spectrum unselected for familial history. To characterize the extended haplotypes carrying the mutation, we have genotyped 9 short tandem repeats on chromosome 17p in 12 trios of Brazilian p.Arg337His carriers. Results confirm that all share a common ancestor haplotype of Caucasian/Portuguese-Iberic origin, distant in about 72-84 generations (2000 years assuming a 25 years intergenerational distance) and thus pre-dating European migration to Brazil. So far, the founder p.Arg337His haplotype has not been detected outside Brazil, with the exception of two residents of Portugal, one of them of Brazilian origin. On the other hand, increased meiotic recombination in p.Arg337His carriers may account for higher than expected haplotype diversity. Further studies comparing haplotypes in populations of Brazil and of other areas of Portuguese migration are needed to understand the historical context of this mutation in Brazil.
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