Article
DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Jul 2015
Fortes F P, Kuasne H, Marchi F A, Miranda P M, Rogatto S R, Achatz M I
Abstract excerpt
Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary cancer predisposition disorder. In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome. The occurrence of cancer and age of disease onset are known to vary, even in patients carrying the same mutation, and several mechanisms such as genetic and epigenetic alterations may be involved in this...
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