Igor Araujo Vieira, Eduarda Heidrich Pezzi, Isabel Cristina Bandeira, Larissa Brussa Reis, Yasminne Marinho de Araújo Rocha, Bruna Vieira Fernandes, Marina Siebert, Kendi Nishino Miyamoto, Monique Banik Siqueira, Maria Isabel Achatz, Henrique de Campos Reis Galvão, Felipe Antonio O Garcia, Natalia Campacci, Dirce Maria Carraro, Maria Nirvana Formiga, Fernanda Sales Luiz Vianna, Edenir Inez Palmero, Gabriel S Macedo, Patricia Ashton-Prolla
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 the p53 pathway. Herein, we investigated the potential phenotypic effects of two miRNA-related functional SNPs, pri-miR-34b/c rs4938723 and 3'UTR KRAS rs61764370, in a cohort of 273 LFS patients from Southern and Southeastern Brazil...
December 7, 2023: Gene