REPAIRtoire - a database of DNA repair pathways

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(OMIM ID: #133239 )

Known also as: None

Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors.
Several genes are involved in the origin and/or progression of esophageal cancer, including TP53, CDKN2A, DEC1, DCC, DLEC1, and TGFBR2.It was found that the promoter region of the adenomatous polyposis coli gene was hypermethylated in tumors of most of their patients with primary esophageal adenocarcinoma. Researchers found mutations in the LZTS1/FEZ1 gene in primary esophageal cancers. It was discovered that a tumor-specific missense mutation in the WWOX gene, associated with loss of heterozygosity (LOH) in the other allele, in esophageal squamous cell carcinoma (ESCC). Somatic mutations have also been identified in the RNF6 gene in ESCC.

DNA repair proteins related with ESOPHAGEAL CANCER (#133239 ) disease:
Last modification of this entry: Oct. 11, 2010.

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