Genetic and Environmental Risk Factors Related to Esophageal Cancer

OBJECTIVES:

- 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.

DISEASE CHARACTERISTICS:

- 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)

PATIENT CHARACTERISTICS:

- No concurrent psychiatric incapacity or dementia

PRIOR CONCURRENT THERAPY:

- Not specified