Article
Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum.
European journal of medical genetics - 1 Jan 2022
Villy Marie-Charlotte, Masliah-Planchon Julien, Buecher Bruno, Beaulaton Clément, Vincent-Salomon Anne, Stoppa-Lyonnet Dominique, Colas Chrystelle
Abstract excerpt
The MUTYH gene encodes a DNA glycosylase that prevents G:C→T:A transversions. Patients with biallelic pathogenic germline MUTYH variants develop an adenomatous polyposis called MUTYH-associated polyposis (MAP). Endometrial cancers have been reported in patients with MAP, but the role of MUTYH loss of function in the oncogenesis remains unclear. We report for the first time a case of endometrial carcinoma with...
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