Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect
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Due to patterns of migration, selection, and population expansion, founder effects are common among humans. In Southern Brazil, a recurrent TP53 mutation, p.R337H, is detected in families with cancer predisposition. We have used whole locus resequencing and high-density single nucleotide polymorphism (SNP) genotyping to refine TP53 locus haplotype definitions. Haplotyping of 12 unrelated p.R337H carriers using a set of 29 tag SNPs, revealed that all subjects carried the same haplotype, and presence of the mutation on this haplotype was confirmed by allele-specific PCR. The probability that this haplotype occurs independently in all index cases was of 3.1x10(-9), demonstrating a founder effect. Analysis of the patterns of 103 tumors diagnosed in 12 families showed that the presence of p.R337H is associated with multiple cancers of the Li-Fraumeni Syndrome (LFS) spectrum, with relatively low penetrance before the age of 30 but a lifetime risk comparable to classical LFS. The p.R337H families are mostly distributed along a road axis historically known as the main route used by merchants of Portuguese origin in the XVIII and XIX century. This historical circumstance and the relatively low penetrance before the age of 30 may have contributed to the maintenance of this pathogenic mutation in a large, open population.
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The high childhood ACC incidence in Southern Brazil is mainly attributed to the high prevalence of the p.R337H low-penetrance allele of TP53.
“This is mainly attributed to the high prevalence of the p.R337H low-penetrance allele of TP53 (6–8).”
From Adrenocortical carcinoma (2014) · cites this paper as [7]
Recent analyses suggest a founder effect for the p.R337H mutation in most cases, although de novo mutations may still exist.
“The p.R337H mutation was initially considered not to be a result of common ancestry; however, recent analyses suggest a founder effect in most cases, although in some cases, de novo mutations may still exist (7, 39).”
From Adrenocortical carcinoma (2014) · cites this paper as [7]
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Genotype Versus Phenotype: The Yin and Yang of Germline TP53 Mutations in Li-Fraumeni Syndrome
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Imaging of cancer predisposition syndromes
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Emerging insights into ethnic-specific TP53 germline variants
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A differential diagnosis of inherited endocrine tumors and their tumor counterparts
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Cancer surveillance for patients with Li-Fraumeni Syndrome in Brazil: A cost-effectiveness analysis
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Personalized Care of Patients with Adrenocortical Carcinoma: A Comprehensive Approach
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Hereditary cancer syndromes as model systems for chemopreventive agent development
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TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence
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Number of rare germline CNVs and TP53 mutation types
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The Brazilian TP53 mutation (R337H) and sarcomas
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- Authors
- Garritano, S., Gemignani, F., Palmero, E. I., Olivier, M., Martel-Planche, G., Le Calvez-Kelm, F., Brugiéres, L., Vargas, F. R., Brentani, R. R., Ashton-Prolla, P., Landi, S., Tavtigian, S. V., Hainaut, P., & Achatz, M. I. W.
- Affiliations
- University of Pisa (IT)
- Centre international de recherche sur le cancer (FR)
- Instituto Nacional de Câncer - INCA (BR)
- AC Camargo Hospital (BR)
- Corresponding author
- Hainaut, Pierre
- ORCID
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2010-02
- Volume
- 31
- Issue
- 2
- Pages
- 143-150
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2072268909
- Cited by
- 153
- References
- 31
- Citations by year
- 2026: 6 · 2025: 11 · 2024: 11 · 2023: 9 · 2022: 7 · 2021: 9 · 2020: 9 · 2019: 4 · 2018: 8 · 2017: 7 · 2016: 12 · 2015: 9 · 2014: 14 · 2013: 17 · 2012: 11
- FWCI
- 3.88
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion)
- Funders
- Susan G. Komen
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Università di Pisa
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Oncology › Cancer-related Molecular Pathways
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- TP53, founder effect, haplotype analysis, Li-Fraumeni syndrome, cancer susceptibility, mutation carriers, southern Brazil, tag SNPs, mutation penetrance, Portuguese merchants
- MeSH terms
- Adolescent, Adult, Base Sequence, Brazil, Child, Child, Preschool, DNA Mutational Analysis, Female, Genetics, Population, Haplotypes, Heterozygote, Humans, Infant, Male, Middle Aged, Molecular Sequence Data, Mutation, Neoplasms, Pedigree, Linkage Disequilibrium, Tumor Suppressor Protein p53, Founder Effect, Amino Acid Substitution, Polymorphism, Single Nucleotide, Young Adult, Genetic Loci
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