Esophageal Cancer Genetics Studies

NCT00341276 | Completed

• 2 other identifiers: 999995027OH95-C-N027
• Study Type: observational
• Target: 7,705
• Locations: 1 country
• Sites: 2

Brief Summary

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.

Conditions

Gastric (Cardia, Body) Cancer; Esophageal Cancer

Keywords

Esophageal Cancer; Genetics; Polymorphism; Susceptibility Genes; Tumor; Natural History

Outcome Measures

Primary Outcomes (4)

• Esophageal cancer susceptibility (tumor /nontumor)

  Obtain tumor and nontumor DNA samples from patients with esophageal cancer and examine markers in these tissues for differences that might suggest genomic loci associated with the development of (and, potentially, susceptibility to) esophageal cancer

  ongoing

• Gene frequency and associated risk (high risk / low risk)

  Obtain DNA from healthy individuals from populations at high-risk and low-risk for esophageal cancer and examine their DNA for differences in gene frequency at selected loci

  ongoing

• Case-control

  Obtain nontumor DNA from esophageal cancer cases and controls without cancer and examine candidate markers for differences that might be associated with esophageal cancer susceptibility

  ongoing

• Linkage of genetic markers

  Obtain nontumor DNA from esophageal cancer cases and their family members and evaluate candidate markers for genetic linkage

  ongoing

Secondary Outcomes (1)

• Gene environment interactions (case control)

  ongoing

Study Arms (1)

1

First, several hundred cases of esophageal cancer and gastric cancer (both cardia and body) ascertained in Taiyuan at the Shanxi Cancer Hospital.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

First, several hundred cases of esophageal cancer and gastric cancer (both cardia and body) ascertained in Taiyuan at the Shanxi Cancer Hospital. Second, several hundred healthy individuals from high-risk (Yangcheng County) and low-risk (Beijing) areas. Third, a large case-control study with cases of esophageal cancer and gastric cancer (both cardia and body) and neighborhood controls selected from Shanxi Province was conducted. Follow-up of cases from the case-control study has been conducted to determine vital status. Fourth, a family study is in progress with selection of families having 2 or more cases with esophageal cancer or gastric cancer; follow-up of family members and accrual of new families is ongoing in Yangcheng county, Shanxi Province. Finally, an endoscopic study has been conducted at Shanxi Cancer Hospital to obtain specimens from a morphologic spectrum of disease ranging from normal to early invasive esophageal cancer.

You may qualify if:

• All patients over the age of 18 presenting to the SCHI with upper GI signs or symptoms requiring upper GI endoscopy over a defined calendar period (depending on prevalence of premalignant lesions, but estimated to be approximately 3 years) will be potentially eligible for participation in this study.
• Patients are eligible only if they meet one of the following two conditions: (1) a visible lesion unlikely to be cancer or (2) no visible lesions on routine endoscopy (without mucosal iodine staining) but an unstained (abnormal) lesion following iodine spraying.
• Invitation for participation will be based solely on the visual appearance of an esophageal abnormality without or with mucosal iodine staining, but before histologic confirmation is obtained, and will occur during the same clinic visit as the qualifying endoscopic examination.

You may not qualify if:

• Patients will not be invited to participate in this study until after they have undergone their routine endoscopic evaluation.

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (2)

Shanxi Tumor Hospital and Institute

Taiyuan, China

Location

Yangcheng County Cancer Hospital and Institute

Yangcheng, China

Location

Related Publications (3)

• Carter CL, Hu N, Wu M, Lin PZ, Murigande C, Bonney GE. Segregation analysis of esophageal cancer in 221 high-risk Chinese families. J Natl Cancer Inst. 1992 May 20;84(10):771-6. doi: 10.1093/jnci/84.10.771.

  PMID: 1573663 BACKGROUND

• Hu N, Dawsey SM, Wu M, Bonney GE, He LJ, Han XY, Fu M, Taylor PR. Familial aggregation of oesophageal cancer in Yangcheng County, Shanxi Province, China. Int J Epidemiol. 1992 Oct;21(5):877-82. doi: 10.1093/ije/21.5.877.

  PMID: 1468848 BACKGROUND

• Guo W, Blot WJ, Li JY, Taylor PR, Liu BQ, Wang W, Wu YP, Zheng W, Dawsey SM, Li B, et al. A nested case-control study of oesophageal and stomach cancers in the Linxian nutrition intervention trial. Int J Epidemiol. 1994 Jun;23(3):444-50. doi: 10.1093/ije/23.3.444.

  PMID: 7960367 BACKGROUND

MeSH Terms

Conditions

Esophageal Neoplasms; Neoplasms

Condition Hierarchy (Ancestors)

Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Head and Neck Neoplasms; Digestive System Diseases; Esophageal Diseases; Gastrointestinal Diseases

Study Officials

• Christian C Abnet, Ph.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 19, 2006
• First Posted: June 21, 2006
• Study Start: July 6, 1995
• Primary Completion: March 18, 2020
• Study Completion: March 18, 2020
• Last Updated: March 27, 2026

Record last verified: 2026-03-23

Locations

CN (2)