Multiple<i> TP53</i> p.R337H haplotypes and implications for tumor susceptibility

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art_PINTO_Multiplei_TP53i_pR337H_haplotypes_and_implications_for_tumor_2024.PDF (2.04 MB)
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article
Data de publicação
2024
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Scopus
Web of Science
PubMed
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ELSEVIER
Autores
PINTO, Emilia M.
FIGUEIREDO, Bonald C.
SALVADOR, Hector
TEIXEIRA, Manuel R.
PINTO, Carla
PINHEIRO, Manuela
KRATZ, Christian P.
LAVARINO, Cinzia
LEGAL, Edith A. M. F.
Citação
HUMAN GENETICS AND GENOMICS ADVANCES, v.5, n.1, article ID 100244, 9p, 2024
Projetos de Pesquisa
Unidades Organizacionais
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Resumo
The germline TP53 p.R337H mutation is reported as the most common germline TP53 variant. It exists at a remarkably high frequency in the population of southeast Brazil as founder mutation in two distinct haplotypes with the most frequent co-segregating with the p.E134* variant of the XAF1 tumor suppressor and an increased cancer risk. Founder mutations demonstrate linkage disequilibrium with neighboring genetic polymorphic markers that can be used to identify the founder variant in different geographic regions and diverse populations. We report here a shared haplotype among Brazilian, Portuguese, and Spanish families and the existence of three additional distinct TP53 p.R337H alleles. Mitochondrial DNA sequencing and Y-STR profiling of Brazilian carriers of the founder TP53 p.R337H allele reveal an excess of Native American haplogroups in maternal lineages and exclusively European haplogroups in paternal lineages, consistent with communities established through male European settlers with extensive intermarriage with Indigenous women. The identification of founder and independent TP53 p.R337H alleles underlines the importance for considering the haplo-type as a functional unit and the additive effects of constitutive polymorphisms and associated variants in modifier genes that can in-fluence the cancer phenotype.
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https://observatorio.fm.usp.br/handle/OPI/57446
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MLS
Artigos e Materiais de Revistas Científicas - LIM/40
Artigos e Materiais de Revistas Científicas - ODS/03