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Genetic and Environmental Risk Factors Related to Esophageal Cancer

This study is currently recruiting participants.
See Contacts and Locations
Verified August 2017 by David Christopher Christiani, Massachusetts General Hospital
National Cancer Institute (NCI)
Information provided by (Responsible Party):
David Christopher Christiani, Massachusetts General Hospital Identifier:
First received: December 17, 2009
Last updated: August 31, 2017
Last verified: August 2017

RATIONALE: Gathering information about genes, cigarette smoking, and diet may help doctors learn more about risk factors that may cause esophageal cancer.

PURPOSE: This clinical trial is studying genetic and environmental risk factors related to esophageal cancer.

Esophageal Cancer

Study Type: Observational
Study Design: Observational Model: Case-Control
Time Perspective: Retrospective
Official Title: Molecular Epidemiology of Esophageal Cancer: Pilot Project

Resource links provided by NLM:

Further study details as provided by David Christopher Christiani, Massachusetts General Hospital:

Primary Outcome Measures:
  • Polymorphisms in various pathways, DNA repair, free-radical formation, inflammatory genes, metastatic potential, and cell cycle or tumor suppression in blood samples [ Time Frame: 2000-2016 ]
  • Comparison of presence or absence of variant polymorphisms between cases and controls [ Time Frame: 2000-2016 ]
  • Correlation between polymorphisms in blood samples and polymorphisms in tissue specimens [ Time Frame: 2000-2016 ]
  • Analyses of dietary factors and Helicobacter pylori infection (previous vs current) [ Time Frame: 2000-2016 ]

Biospecimen Retention:   Samples With DNA
Blood and/or buccal cells may be collected

Estimated Enrollment: 1200
Study Start Date: April 2000
Estimated Study Completion Date: September 2022
Estimated Primary Completion Date: June 2022 (Final data collection date for primary outcome measure)
Detailed Description:


  • Examine the role of several genetically-determined factors in combination with cigarette smoking and diet in the etiology and prevention of esophageal cancer.
  • Identify polymorphisms in metabolizing enzymes (e.g., phase I or II metabolism [GSTM1, GSTT1,CYP1A1, CYP3A5, mEH, NQO1, GSTP1], DNA repair [XRCC1, ERCC2], free-radical formation [MPO, MnSOD], inflammatory genes [ IL1-beta], metastatic potential [MMP1], and cell cycle or tumor suppression [p21, p53]) and related path genes of susceptibility for esophageal cancer.

OUTLINE: Blood and tumor tissue samples are collected. DNA purified from these samples is analyzed using DNA-based assays to determine polymorphisms in various related gene pathways.

Patients complete questionnaires concerning environmental, smoking and diet habits.

PROJECTED ACCRUAL: A total of 1,000 tissue samples from patients and healthy participants (750 patients and 250 healthy participants) will be accrued for this study.


Ages Eligible for Study:   18 Years to 100 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Adult patients with esophageal cancer and healthy controls aged 45 and over


  • Meets 1 of the following criteria:

    • Diagnosis of esophageal cancer (patient)

      • Newly diagnosed disease
      • Receiving care at Massachusetts General Hospital, Thoracic Oncology Center
    • Friend or spouse of patient (healthy participants)


  • No concurrent psychiatric incapacity or dementia


  • Not specified
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01035398

United States, Massachusetts
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02114
Contact: Clinical Trials Office - Massachusetts General Hospital    877-726-5130      
Harvard School of Public Health Recruiting
Boston, Massachusetts, United States, 02115
Contact: David C. Christiani, MD    617-726-9274      
Sponsors and Collaborators
Massachusetts General Hospital
National Cancer Institute (NCI)
Principal Investigator: David C. Christiani, MD Massachusetts General Hospital
  More Information

Responsible Party: David Christopher Christiani, Pulmonary Associate, Massachusetts General Hospital Identifier: NCT01035398     History of Changes
Other Study ID Numbers: CDR0000450143
MGH-1999-P-010178/23 ( Other Identifier: Partners IRB )
5R01CA109193-04 ( U.S. NIH Grant/Contract )
Study First Received: December 17, 2009
Last Updated: August 31, 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by David Christopher Christiani, Massachusetts General Hospital:
stage 0 esophageal cancer
stage I esophageal cancer
stage II esophageal cancer
stage III esophageal cancer
stage IV esophageal cancer

Additional relevant MeSH terms:
Esophageal Neoplasms
Gastrointestinal Neoplasms
Digestive System Neoplasms
Neoplasms by Site
Head and Neck Neoplasms
Digestive System Diseases
Esophageal Diseases
Gastrointestinal Diseases processed this record on September 18, 2017