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Molecular Diagnosis of Gastrointestinal Cancer

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Molecular Pathology of Gastroenterological Cancer

Summary

Multiple genetic alterations of oncogenes, tumor-suppressor genes, and DNA repair genes are involved in the conversion of normal cells to clinical cancers. These genetic alterations can be applied in a multistep mechanism of development and progression of gastrointestinal cancers, although common and distinct genetic changes are observed in esophageal, gastric, and colorectal carcinomas. Inactivation of the p53 gene, reactivation of telomerase, and anomalous CD44 expression are common events that serve as genetic markers for the differential diagnosis of cancer. Amplification of the cyclin D1 gene is preferentially found in esophageal cancer, whereas amplification of c-met is common in gastric cancer. The cyclin E gene amplification is frequently associated with both gastric and colorectal cancers. Deletion of the cyclin-dependent kinase inhibitor gene is often found in esophageal carcinoma cell lines. The scenario of multiple genetic alterations differs depending on the two histological types of gastric cancer, suggesting that they may have different genetic pathways. By applying these observations to routine clinical practice, we can facilitate and improve the differential diagnosis of cancer, obtain information of the grade of malignancy, foresee patient prognosis, identify patients at high risk for developing multiple cancers, and discover novel therapies for cancer. The molecular diagnosis of gastrointestinal cancers, which has been performed at Hiroshima City Medical Association Clinical Laboratory, may provide a new approach to cancer diagnosis for the twenty-first century. These advances raise a number of questions concerning the ethics of molecular diagnosis and treatment. The practical and ethical implications of identifying carriers of hereditary cancer should be considered in clinical and nonclinical contexts.

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Yasui, W., Yokozaki, H., Tahara, E. (1997). Molecular Diagnosis of Gastrointestinal Cancer. In: Tahara, E. (eds) Molecular Pathology of Gastroenterological Cancer. Springer, Tokyo. https://doi.org/10.1007/978-4-431-65915-0_14

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