Targeted gene sequencing of lynch syndrome-related and sporadic endometrial carcinomas

About one third of endometrial carcinomas (ECs), mainly of endometrioid histology, harbor the mismatch repair (MMR) defects and microsatellite instability (MSI). Among these, ECs arising in women with Lynch Syndrome (LS) account for a large proportion. To date, no somatic genetic analyses have been published comparing LS-ECs with sporadic ECs. In this work, we examined the mutational profiles of a well-characterized series of sporadic and LS-related ECs, performing exonic targeted sequencing of 16 genes mainly involved in MSI ECs.

Source: Human Pathology - July 3, 2018 Category: Pathology Authors: Laura Libera, Ilaria Craparotta, Nora Sahnane, Anna Maria Chiaravalli, Laura Mannarino, Roberta Cerutti, Cristina Riva, Sergio Marchini, Daniela Furlan Tags: Declarations of interest: none Source Type: research