Esophageal CancerNCT00341276
Esophageal Cancer Genetics Studies
An observational study of Esophageal Cancer and Gastric (Cardia, Body) Cancer, run by National Cancer Institute (NCI) at 2 sites in China.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Esophageal Cancer, Gastric (Cardia, Body) Cancer
- How many people
- 7,705 participants
- Where
- 2 sitesChina
- Study dates
- 6 Jul 1995to 18 Mar 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Patients will not be invited to participate in this study until after they have undergone their routine endoscopic evaluation.
Trial locations and contacts
2 sites in 1 country.
China2 sites
Shanxi Tumor Hospital and Institute
Taiyuan
Yangcheng County Cancer Hospital and Institute
Yangcheng
About this study
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....
Read the 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.
Several different but complementary approaches are proposed 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/nontumor study will be conducted in which a biological specimen bank consisting of samples (tumor, nontumor, venous blood, finger stick blood, and buccal cells) from a total of approximately 150 cases each 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. Comparative genomic hybridization and microsatellite markers will be used to scan the genome in up to 20 cases to identify potential hot spots followed by further testing of these hot spots and other candidate markers in additional tumor/nontumor samples. 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 differences in polymorphisms for selected genomic markers. Third, a casecontrol study will be conducted to evaluate hot spots and candidate markers identified from the tumor/nontumor study and potential gene-environment interactions. Finally, a linkage study will be conducted by identifying and collecting information and DNA from cases and first degree relatives in special highly informative families (those with 2 or more cases having obtainable DNA) as well as population-based ascertainment and collection of information and DNA from all new cases from Yangcheng County.
- Conditions
- Esophageal Cancer, Gastric (Cardia, Body) Cancer
- Keywords
- Esophageal Cancer, Genetics, Polymorphism, Susceptibility Genes, Tumor, Natural History
- Medical subject headings
- Esophageal Neoplasms, Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | First, several hundred cases of esophageal cancer and gastric cancer (both cardia and body) ascertained in Taiyuan at the Shanxi Cancer Hospital. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: 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
Measured: ongoing
Linkage of genetic markers
Obtain nontumor DNA from esophageal cancer cases and their family members and evaluate candidate markers for genetic linkage
Measured: ongoing
Secondary outcomes (1)
Gene environment interactions (case control)
Evaluate potential gene-environment interactions in the etiology and prevention of esophageal cancer in the case-control study
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jun 2006 (estimated)
- Study start6 Jul 1995
- Primary completion18 Mar 2020
- Study completion18 Mar 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Esophageal CancerStudies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 7,705 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Christian C Abnet, Ph.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00341276
- Sponsor's protocol ID
- 999995027
- Other IDs
- OH95-C-N027
- Status last verified
- 27 Jul 2026
- First submitted
- 19 Jun 2006
- Last updated
- 29 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 1573663Hu 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.
PubMed 1468848Guo 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.
PubMed 7960367
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Esophageal Cancer Genetics Studies
- ClinicalTrials.gov ID
- NCT00341276
- Acronym / sponsor ID
- 999995027
- Conditions
- Esophageal Cancer, Gastric (Cardia, Body) Cancer
- Keywords
- Esophageal Cancer, Genetics, Polymorphism, Susceptibility Genes, Tumor, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 7,705 participants (actual)
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- 6 Jul 1995
- Primary completion
- 18 Mar 2020 (actual)
- Study completion
- 18 Mar 2020 (actual)
- First posted
- 21 Jun 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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....
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.
Several different but complementary approaches are proposed 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/nontumor study will be conducted in which a biological specimen bank consisting of samples (tumor, nontumor, venous blood, finger stick blood, and buccal cells) from a total of approximately 150 cases each 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. Comparative genomic hybridization and microsatellite markers will be used to scan the genome in up to 20 cases to identify potential hot spots followed by further testing of these hot spots and other candidate markers in additional tumor/nontumor samples. 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 differences in polymorphisms for selected genomic markers. Third, a casecontrol study will be conducted to evaluate hot spots and candidate markers identified from the tumor/nontumor study and potential gene-environment interactions. Finally, a linkage study will be conducted by identifying and collecting information and DNA from cases and first degree relatives in special highly informative families (those with 2 or more cases having obtainable DNA) as well as population-based ascertainment and collection of information and DNA from all new cases from Yangcheng County.
Study design
- Observational model
- Other
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –First, several hundred cases of esophageal cancer and gastric cancer (both cardia and body) ascertained in Taiyuan at the Shanxi Cancer Hospital. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- Patients will not be invited to participate in this study until after they have undergone their routine endoscopic evaluation.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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 the development of (and, potentially, susceptibility to) esophageal cancer
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
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
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
1 secondary outcome
Gene environment interactions (case control)
Time frame: ongoing
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2026.
- Background: PubMed 1573663Carter 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.
- Background: PubMed 1468848Hu 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.
- Background: PubMed 7960367Guo 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.
Related trials for Esophageal Cancer
RecruitingPhase 1/2
A Study of Bispecific Antibody MCLA-158 in Patients With Advanced Solid Tumors
Advanced/Metastatic Solid Tumors, Colorectal Cancer
Recruiting
The Effectiveness of Structured Swallowing Exercise Therapy in Patients With Nasopharyngeal Carcinoma: An Assessment of Swallowing Function and Quality of Life
Nasopharyngeal Carcinoma (NPC)
Active, not recruiting
Clinical Application of an AI-based Dissection Trajectory Prediction System (ADTPS) in Endoscopic Submucosal Dissection
Esophageal Squamous Cell Carcinoma (ESCC), High-Grade Intraepithelial Neoplasia
RecruitingPhase 1/2
CR-002 in Adult Participants With Locally Advanced or Metastatic Solid Tumors
Head and Neck Squamous Cell Carcinoma (HNSCC) - Recurrent/Metastatic (R/M), Gastric/GEJ
RecruitingPhase 4
Intraoperative Imaging of Gastrointestinal Malignancies Using Pafolacianine (CYTALUX™)
Gastrointestinal Cancer, Gastric Cancer
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Christian C Abnet, Ph.D. principal investigator
National Cancer Institute (NCI)
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Esophageal Cancer and Gastric (Cardia, Body) Cancer, run by National Cancer Institute (NCI) at 2 sites in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Esophageal cancer susceptibility (tumor /nontumor) (time frame: ongoing). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00341276, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2026.