Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature

PTEN hamartoma syndrome (PHTS) is an autosomal dominant disorder characterized by pathogenic variants in the tumor suppressor gene phosphatase and tensin homolog (PTEN). It is associated with an increased risk of...

Source: BMC Medical Genomics - July 13, 2023 Category: Genetics & Stem Cells Authors: Mathias Cavaill é, Delphine Crampon, Viorel Achim, Virginie Bubien, Nancy Uhrhammer, Maud Privat, Flora Ponelle-Chachuat, Mathilde Gay-Bellile, Mathis Lepage, Zangbéwendé Guy Ouedraogo, Natalie Jones, Yannick Bidet, Nicolas Sevenet and Yves-Jean Bignon Tags: Case Report Source Type: research