Faculty Mentor

Dr. Elaine Vanterpool

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Description

Cancer develops when cells grow uncontrollably, often due to mutations in genes that maintain genome stability. One such gene is CHEK2 (Checkpoint Kinase 2), a tumor suppressor activated in response to DNA damage. CHEK2 halts the cell cycle to allow for DNA repair, stabilizes TP53, and phosphorylates BRCA1 , all of which help prevent the spread of mutations. CHEK2 belongs to the CDS1 family of serine/threonine kinases and contains an FHA domain that facilitates interaction with other DNA damage response proteins. Upon activation, CHEK2 inhibits CDC25C phosphatase, preventing premature mitosis, and contributes to G1 arrest through p53 stabilization. Itsrole in homologous recombination via BRCA1 further supports genomic integrity. Mutations in CHEK2 can impair these functions, allowing cells to bypass checkpoints and accumulate further damage, increasing cancer risk. Such mutations are linked to Li-Fraumeni syndrome and higher risks of breast, brain, thyroid cancers, and sarcomas. This study examines two CHEK2 missense mutations, Ser194Cys and Ala190Val, to evaluate their potential impact on protein function and cancer susceptibility. Insights from this research may aid genetic counseling and risk assessment strategies.

Publication Date

4-1-2025

City

Huntsville

Disciplines

Biology

Comments

Nicevarlyn Philippe, Student Researcher

CHEK2 in Cancer Suppression: Investigating Genetic Variants and Their Impact

Included in

Biology Commons

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