Article
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas.
European journal of human genetics : EJHG - 1 Mar 2021
Le Duc Diana, Hentschel Julia, Neuser Sonja, Stiller Mathias, Meier Carolin, Jäger Elisabeth, Abou Jamra Rami, Platzer Konrad, Monecke Astrid, Ziemer Mirjana, Markovic Aleksander, Bläker Hendrik, Lemke Johannes R
Abstract excerpt
Pathogenic variants in TP53 have been classically thought to cause Li-Fraumeni syndrome (LFS), a cancer predisposition with high risks for various childhood- and adult-onset malignancies. However, increased genetic testing has lately revealed, that pathogenic variant carriers exhibit a broader range of phenotypes and that penetrance may be dependent both on variant type and modifiers. Using next generation...
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