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Upper Gastrointestinal Cancer Genetic Studies in Shanxi Province, China

The Upper Gastrointestinal Cancer Genetic Studies in Shanxi Province, China, were started to look for major susceptibility genes for upper gastrointestinal (UGI) cancers and to identify the genetic changes associated with their development. This project was initiated to study esophageal squamous cell carcinomas, but also includes other UGI cancers (gastric cardia cancer and gastric non-cardia cancer).  The project goals include: 

  • Identification of somatic genetic alterations, including changes that might serve as early detection biomarkers
  • Examination of cancer-associated germline genetic variants to identify major risk and moderate risk susceptibility genes to enable development of risk stratification strategies and to gain a better understanding of the biology of these UGI cancers

Following a pilot study in 1995, we initiated a collaboration with the Shanxi Cancer Hospital and Institute, Taiyuan, Shanxi Province, China in 1996 to perform clinical and field studies. These studies have been the core of our UGI cancer genome-wide association studies (GWAS) in Asians.

Tumor/non-tumor study

To enable study of somatic alterations in tumors, we developed a tumor/non-tumor study by recruiting cancer cases surgically resected at the Shanxi Cancer Hospital, who answer a standardized risk factor questionnaire and provide a blood sample and tumor/non-tumor surgical specimens.

Endoscopy study

To permit evaluation of somatic molecular markers in pre-malignant tissues in our search for early detection markers, we added an endoscopy study in 2006, which targets collection of esophageal biopsies, blood, and risk factor questionnaire data on patients presenting to the Endoscopy Clinic at the Shanxi Cancer Hospital.

Family study

To examine germline genetic variants in relation to cancer in our search for major risk susceptibility genes, we developed a family study, which recruits highly informative multiplex families (pedigrees with 2+ UGI cancer cases and available DNA) and obtains blood samples and questionnaire-based risk factor information on all living first-degree relatives over 20 years of age for linkage (and association study) analysis.

Case-control study

To evaluate germline genetic variants in relation to cancer in our search for moderate risk susceptibility genes, as well as to study environment, gene-environment, and gene-gene interactions, we developed a case-control study that enrolls histologically-confirmed UGI cancer cases and neighborhood-matched controls, obtains information from a structured risk factor questionnaire, and collects biologic samples (a venous blood sample, a finger stick blood sample, a buccal smear, and a tumor specimen from surgical resections of cases).

For more information, contact Alisa Goldstein.

Clinical Genetics Branch - Research Areas