Article
Investigating USP42 Mutation as Underlying Cause of Familial Non-Medullary Thyroid Carcinoma.
International journal of molecular sciences - 26 Jan 2024
Teixeira Elisabete, Fernandes Cláudia, Bungărdean Maria, Paula Arnaud Da Cruz, Lima Raquel T, Batista Rui, Vinagre João, Sobrinho-Simões Manuel, Máximo Valdemar, Soares Paula
Abstract excerpt
In a family with Familial Non-Medullary Thyroid Carcinoma (FNMTC), our investigation using Whole-Exome Sequencing (WES) uncovered a novel germline USP42 mutation [p.(Gly486Arg)]. USP42 is known for regulating p53, cell cycle arrest, and apoptosis, and for being reported as overexpressed in breast and gastric cancer patients. Recently, a USP13 missense mutation was described in FNMTC, suggesting a potential...
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