CHEK2 in Cancer Suppression: Investigating Genetic Variants and Their Impact

Authors

Elaine Vanterpool, Oakwood University
Nicevarlyn Philippe, Oakwood University

Faculty Mentor

Dr. Elaine Vanterpool

Files

Description

Cancer arises from uncontrolled cell growth, often due to mutations in genes that regulate DNA repair, cell cycle checkpoints, and apoptosis. The CHEK2 gene encodes checkpoint kinase 2, a critical tumor suppressor protein activated in response to DNA damage. CHEK2 halts the cell cycle to allow for DNA repair, stabilizes the tumor suppressor p53, and interacts with BRCA1 , helping to maintain genomic integrity and prevent the accumulation of harmful mutations. Disruptions in these processes can lead to the development and progression of various cancers. Mutations in CHEK2 have been linked to Li-Fraumeni syndrome, a rare but highly penetrant hereditary cancer predisposition syndrome typically associated with inherited TP53 mutations. These mutations increase the risk of developing breast, brain, thyroid, and several other tumor types. This study analyzes the pathogenic potential of two missense mutations in CHEK2: Ser194Cys and Ala190Val, both identified using ClinVar, a publicly accessible database that links genetic variants to clinical conditions. The goal is to assess whether these specific variants significantly affect CHEK2’s tumor suppressor function and contribute to increased cancer susceptibility through computational and structural analysis.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Recommended Citation

Vanterpool, Elaine and Philippe, Nicevarlyn, "CHEK2 in Cancer Suppression: Investigating Genetic Variants and Their Impact" (2025). Student Posters. 105.
https://ouscholars.oakwood.edu/student-posters/105