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Esophageal Cancer Genetics Studies

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ClinicalTrials.gov Identifier: NCT00341276
Recruitment Status : Completed
First Posted : June 21, 2006
Last Update Posted : July 7, 2022
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

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.


Condition or disease
Esophageal Cancer Gastric (Cardia, Body) Cancer

Detailed 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 fourth 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.

Five 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 several hundred 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. Fourth, 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. Finally, an endoscopic study will be conducted to obtain specimens from a morphologic spectrum of disease ranging from normal to early invasive disease in order to characterize molecular progression.

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Study Type : Observational
Actual Enrollment : 7705 participants
Observational Model: Other
Time Perspective: Other
Official Title: Esophageal Cancer Genetics Studies
Study Start Date : July 6, 1995

Resource links provided by the National Library of Medicine


Group/Cohort
1
First, several hundred cases of esophageal cancer and gastric cancer (both cardia and body) ascertained in Taiyuan at the Shanxi Cancer Hospital.



Primary Outcome Measures :
  1. Esophageal cancer susceptibility (tumor /nontumor) [ Time Frame: ongoing ]
    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 thedevelopment of (and, potentially, susceptibility to) esophageal cancer

  2. Gene frequency and associated risk (high risk / low risk) [ Time Frame: ongoing ]
    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

  3. Case-control [ Time Frame: ongoing ]
    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

  4. Linkage of genetic markers [ Time Frame: ongoing ]
    Obtain nontumor DNA from esophageal cancer cases and their family members and evaluate candidate markers for genetic linkage


Secondary Outcome Measures :
  1. Gene environment interactions (case control) [ Time Frame: ongoing ]
    Evaluate potential geneenvironment interactions in the etiology and prevention of esophageal cancer in the case-control study



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 100 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria
  • INCLUSION CRITERIA:

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.

EXCLUSION CRITERIA:

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


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00341276


Locations
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China
Shanxi Tumor Hospital and Institute
Taiyuan, China
Yangcheng County Cancer Hospital and Institute
Yangcheng, China
Sponsors and Collaborators
National Cancer Institute (NCI)
Investigators
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Principal Investigator: Alisa M Goldstein, Ph.D. National Cancer Institute (NCI)
Publications:
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Responsible Party: National Cancer Institute (NCI)
ClinicalTrials.gov Identifier: NCT00341276    
Obsolete Identifiers: NCT00558415, NCT01338246
Other Study ID Numbers: 999995027
OH95-C-N027
First Posted: June 21, 2006    Key Record Dates
Last Update Posted: July 7, 2022
Last Verified: January 14, 2022
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Esophageal Cancer
Genetics
Polymorphism
Susceptibility Genes
Tumor
Natural History
Additional relevant MeSH terms:
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Esophageal Neoplasms
Gastrointestinal Neoplasms
Digestive System Neoplasms
Neoplasms by Site
Neoplasms
Head and Neck Neoplasms
Digestive System Diseases
Esophageal Diseases
Gastrointestinal Diseases