Faculty, Staff and Student Publications

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

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