Functional pri-miR-34b/c rs4938723 and KRAS 3'UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?

doi:10.1016/j.gene.2023.148069

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Functional pri-miR-34b/c rs4938723 and KRAS 3'UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?

Gene - 10 Mar 2024

Vieira Igor Araujo, Pezzi Eduarda Heidrich, Bandeira Isabel Cristina, Reis Larissa Brussa, de Araújo Rocha Yasminne Marinho, Fernandes Bruna Vieira, Siebert Marina, Miyamoto Kendi Nishino, Siqueira Monique Banik, Achatz Maria I, Galvão Henrique de Campos Reis, Garcia Felipe Antonio de Oliveira, Campacci Natalia, Carraro Dirce Maria, Formiga Maria Nirvana, Vianna Fernanda Sales Luiz, Palmero Edenir Inez, Macedo Gabriel S, Ashton-Prolla Patricia

Abstract excerpt

PURPOSE: Li-Fraumeni Syndrome (LFS) is a rare cancer predisposing condition caused by germline pathogenic TP53 variants, in which core tumors comprise sarcomas, breast, brain and adrenocortical neoplasms. Clinical manifestations are highly variable in carriers of the Brazilian germline founder variant TP53 p.R337H, possibly due to the influence of modifier genes such as miRNA genes involved in the regulation of...

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PMID: 38070788
DOI: 10.1016/j.gene.2023.148069

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