Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand.

ABSTRACT: Aotearoa, New Zealand, has one of the fastest-rising rates of endometrial cancer (EC) worldwide, increasing particularly in younger Māori and Pasifika women. There is a move towards using molecular profiling to direct treatment for each EC subtype. This study aimed to explore the molecular profiling of primary EC tissue in Aotearoa. We used the PORTEC guidelines for the molecular subtyping of 90 patients' samples into four categories: POLE-mutated, p53 abnormal, mismatch repair deficient (MMRd) and no specific molecular profile (NSMP). The CTNNB1 mutation and L1CAM expression were also included in the analysis. POLE and CTNNB1 mutations were analysed using targeted next-generation sequencing (NGS). Novel mutations were assessed using VarSome. MMRd, L1CAM and p53 abnormalities were analysed

SUBMITTER: Henry CE 

PROVIDER: S-EPMC8615986 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature