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FUNCTIONAL CHARACTERIZATION OF GENETIC AND EPIGENETIC CHANGES ASSOCIATED WITH RISK OF COLORECTAL CANCER
Our research is anticipated to construct a model for colorectal cancer prevention that involves the epigenetic analysis of normal cells in intestinal mucosa for risk stratification. The research focuses on epigenetics and its interplay with genetics in colorectal cancer.
The epigenetic study nicely links to our continuing project of functional characterization of low risk mismatch repair (MMR) gene mutations found in CRC patients and addresses the question why/how the same mutation causes cancer in one individual but not in the other. Characterization of the biochemical defects caused by cancer-associated mutations facilitates the definition of functionally important domains of the MMR proteins, which is necessary to establish genotype-phenotype correlations and may subsequently be used to predict cancer risk, penetrance, and clinical outcome in the mutation carriers.
The recognition of epigenetic changes as a driving force in colorectal neoplasia would open new areas of research in disease epidemiology, risk assessment, and treatment, especially in mutation carriers who already have an inherited predisposition to cancer.
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