NCT00341276

Esophageal Cancer Genetics Studies

Completed Last updated 27 March 2026

What this trial tests

trial in Esophageal Cancer in 7,705 participants. Completed in 18 March 2020.

Timeline

6 July 1995

Primary endpoint
18 March 2020

18 March 2020

Quick facts

Lead sponsor	National Cancer Institute (NCI)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	7,705
Start date	6 July 1995
Primary completion	18 March 2020
Estimated completion	18 March 2020
Sites	2 locations across China

Conditions studied

• Esophageal Cancer — all drugs for Esophageal Cancer →
• Gastric (Cardia, Body) Cancer — all drugs for Gastric (Cardia, Body) Cancer →

Sponsor

National Cancer Institute (NCI)

Who can join

18 and older, any sex, with Esophageal Cancer or Gastric (Cardia, Body) Cancer. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

The overall goal of this project is to understand the role of genetics in the etiology and prevention of upper gastrointestinal cancer, primarily esophageal cancer, but also cancers of the gastric cardia and body.

Esophageal cancer is the second most common cause of cancer death in China and the seventh most common cause of cancer death worldwide. Evidence suggests that genetic factors may play an important role in the etiology of this malignancy, and identification of esophageal cancer susceptibility genes may allow screening of populations to identify persons at particularly high risk, who could then be targeted for prevention strategies (e.g., chemoprevention or early detection). There are several lines of evidence supporting the idea that there is genetic susceptibility for esophageal cancer in high-risk Chinese populations, including an association of positive family history with increased risk, evidence of familial aggregation of cases, and segregation analyses suggesting Mendelian inheritance in high-risk families.

Several different but complementary approaches will be used to identify esophageal cancer susceptibility genes. (Because of etiologic similarities and for logistic reasons, parallel efforts will be made with gastric cardia and body cancers.) First, a tumor/non-tumor study will be conducted in which a biological specimen bank consisting of samples (tumor, non-tumor, venous blood, finger stick blood, and buccal cells) from several hundred cases of esophageal, gastric cardia, and gastric body cancers will be developed in Taiyuan that can be used for the identification of esophageal (as well as gastric cardia and body) cancer susceptibility genes and potential early genetic markers of these cancers. High-density genome-wide scans with microsatellite markers will be used in a limited number of cases to identify potential hot spots followed by further testing of these hot spots and other candidate markers in additional tumor/non-tumor samples. Premalignant morphologic lesions will also be examined. Second, blood samples for DNA will be collected from approximately 100 healthy individuals from high-risk (Yangcheng County) and low-risk (Beijing) areas to examine potential population differences in polymorphisms for selected genomic markers. Third, a large case-control study with cancers of the esophagus, cardia, and body of stomach will be conducted to evaluate polymorphisms in the candidate markers identified in other components of this project, and to evaluate gene-environment interactions. Finally, a family study will be conducted to evaluate linkage of candidate markers with cancer in families having 2 or more cases with cancers of the esophagus, cardia, and/or body of stomach.

Publications & conference data

2 peer-reviewed publications reference this trial (live from Europe PMC):

1. Genetic variants in epidermal growth factor receptor pathway genes and risk of esophageal squamous cell carcinoma and gastric cancer in a Chinese population.
   Li WQ, Hu N, Wang Z, Yu K, et al · · 2013 · cited 19× · PMID 23874846 · DOI 10.1371/journal.pone.0068999
2. ABO genotypes and the risk of esophageal and gastric cancers.
   Chen Y, Hu N, Liao L, Yu K, et al · · 2021 · cited 11× · PMID 34022824 · DOI 10.1186/s12885-021-08334-1