Genetic Heterogeneity of Oesophageal Cancer in High-Incidence Areas of Southern and Northern China

Abstract

Background and ObjectiveOesophageal cancer is one of the most common and deadliest cancers worldwide. Our previous population-based study reported a high prevalence of oesophageal cancer in Chaoshan, Guangdong Province, China. Ancestors of the Chaoshan population migrated from the Taihang Mountain region of north-central China, which is another high-incidence area for oesophageal cancer. The purpose of the present study was to obtain evidence of inherited susceptibility to oesophageal cancer in the Chaoshan population, with reference to the Taihang Mountain population, with the eventual goal of molecular identification of the disease genes.MethodsWe conducted familial correlation, commingling, and complex segregation analyses of 224 families from the Chaoshan population and 403 families from the Taihang population using the FPMM program of S.A.G.E. version 5.3.0. A second analysis focused on specific families having large numbers of affected individuals or early onset of the disease.ResultsFor the general population, moderate sib-sib correlation was noticed for esophageal cancer. Additionally, brother-brother correlation was even higher. Commingling analyses indicated that a three-component distribution model best accounts for the variation in age of onset of oesophageal cancer, and that a multifactorial model provides the best fit to the general population data. An autosomal dominant mode and a dominant or recessive major gene with polygenic inheritance were found to be the best models of inherited susceptibility to oesophageal cancer in some large families.ConclusionsThe current results provide evidence for inherited susceptibility to oesophageal cancer in certain high-risk groups in China, and support efforts to identify the susceptibility genes.

Aberrant methylation-mediated downregulation of long noncoding RNA LOC100130476 correlates with malignant progression of esophageal squamous cell carcinoma

“…Esophageal squamous cell carcinoma (ESCC) is the main type of esophageal cancer in China, and has great geographical as well as sociocultural variation in incidence [3]. Some of the high incidence areas of ESCC are in northern China, especially in some counties bordering Hebei, Henan, and Shanxi Provinces [4]. There is a strong tendency toward familial aggregation of ESCC in these high-risk areas; however, a large proportion of the etiology of ESCC in these populations still remains largely unknown for the moment.…”

Hypermethylation-modulated down-regulation of CDH1 expression contributes to the progression of esophageal cancer

“…Among new cases of Ec in the world, china accounts for 52.8% (3,6). The mortality rate of EC in China ranks first in the world (3,6,7). In china, it ranks as the fourth and third cause of death in urban and rural areas, respectively (1,2,6,7).…”

“…In china, it ranks as the fourth and third cause of death in urban and rural areas, respectively (1,2,6,7). Areas of high incidence for Ec in china include the regions of the Taihang Mountains in northern china, the dabie Mountains, northern Sichuan, northern Jiangsu, the southeast coastal areas of the border of Fujian and Guangdong, the inhabited areas of Xinjiang Kazaks, including the ci and She counties of Hebei Province, Lin county of Henan Province, and Yangcheng county in Shanxi Province, which exhibit 5 times the national average incidence and 10 times the world average incidence (1,2,6,7). Ec development shows similarities to other tumors, which implies the involvement of multiple factors, multiple genetic changes, and a multistage development process (8,9).…”

Aberrant Methylation of Different DNA Repair Genes Demonstrates Distinct Prognostic Value for Esophageal Cancer

“…ESCC is characterized by high invasiveness, rapid metastasis, poor postoperative quality of life, and its significantly higher incidence in some regions [2,3]. In China, a region of high incidence of ESCC is the crossing at the boundaries of Henan, Hebei, and Shanxi Provinces within the hilly area of Taihang, and the incidence decreases as the distance from the central region, that is, from Linxian of Henan Province, increases [1][2][3][4]. Molecular mechanisms contributing to the initiation, progression, and prognosis of ESCC are still poorly understood.…”