PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.

ABSTRACT:

Background

In Norway, we have offered testing of PMS2 since 2006, and have a large national cohort of carriers. The aim of this study was to describe all PMS2 variants identified, and to describe frequency, spectrum and penetrance of cancers in carriers of class 4/5 variants.

Methods

All detected PMS2 variants were collected from the diagnostic laboratories and reclassified according to ACMG criteria and gene specific guidelines. Data on variant, gender, cancer diagnosis, age at diagnosis, and age at last known follow-up was collected on all carriers of class 4/5 variants from electronic patient records. The Kaplan-Meier algorithm was used to calculate cumulative risk of any cancer, colorectal cancer and endometrial cancer.

Results

In total, 220 different PMS2 variant

SUBMITTER: Sjursen W 

PROVIDER: S-EPMC11438158 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature