Preferred Label : Esophageal cancer;
Type : Phenotype, molecular basis known;
Included titles and symbols : Esophageal squamous cell carcinoma, susceptibility to; Escc, susceptibility to; Aerodigestive tract cancer, susceptibility to; Gastric cardia adenocarcinoma, susceptibility to;
Description : 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 (summary by Wang et al., 2010
and Abnet et al., 2010). - Genetic Heterogeneity of Susceptibility to Esophageal Cancer
See a variant in the ADH1B gene (103720.0001) for discussion of a possible genetic
association with protection against squamous cell aerodigestive tract cancer, including
esophageal cancer, in alcohol drinkers. See a variant in the ALDH2 gene (100650.0001)
for discussion of a possible genetic association with increased risk for esophageal
cancer in alcohol drinkers due to interaction between variants in the ADH1B and ALDH2
genes. See the S100A14 gene (607986) on chromosome 1q21 for a discussion of a possible
association between variation in that gene and susceptibility to esophageal squamous
cell carcinoma among smokers. - Genetic Heterogeneity of Somatic Mutations in Esophageal
Cancer Somatic mutations in several different genes have been found in esophageal
cancer tissue. These genes include TP53 (191170), CDKN2A (600160), DEC1 (604767),
DCC (120470), DLEC1 (604050), TGFBR2 (190182),;
Inheritance : Autosomal dominant; Somatic mutation;
Neoplasia : Esophageal cancer; Esophageal squamous cell carcinoma;
Prefixed ID : #133239;
Origin ID : 133239;
UMLS CUI : C0152018;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
