In Vitro Data Suggest a Role for PMS2 Kozak Sequence Mutations in Lynch Syndrome Risk

Authors

Evanjalina J Matoy
Jocelyn N Plowman
Cynthia J Watson
Michael A Belshan
Elizabeth E Blue
Chad D Huff
Holly A F Stessman

Publication Date

7-18-2024

Journal

Human Genetics and Genomic Advances

Abstract

This study investigates the role of 5′ UTR PMS2 Kozak sequence genetic variation in cancer risk. It accomplishes this through the development of a mid-throughput reporter assay where variants can be tested for protein translation efficiency. The results highlight the importance of continued study of the Kozak sequence related to human disease.

Keywords

Lynch syndrome, hereditary cancer, cancer risk, non-coding variation, Kozak sequence, PMS2

Comments

PMID: 38654521

DOI

10.1016/j.xhgg.2024.100298

PMID

38654521

PMCID

PMC11087717

PubMedCentral® Posted Date

April 2024

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes