Epidemiology of Loss of Imprinting in Colorectal Cancer

Johns Hopkins University, Baltimore MD

Investigators

Linked publications & trials

Abstract

DESCRIPTION (provided by applicant): Dr. Cruz-Correa is currently completing the requirements of both a gastroenterology fellowship at Johns Hopkins Hospital and a Ph.D. in Clinical Investigation through the Graduate Training Program in Clinical Investigation, a joint initiative of the Johns Hopkins School of Medicine and the School of Hygiene and Public Health. She has successfttlly completed the preliminary Ph.D. oral exam, which covered fundamental concepts given during the first year of formal didactic training at the Johns Hopkins School of Hygiene. Her immediate career goals are the completion of her doctorate in Clinical Investigation, the publication of its results, and an appointment to the faculty of Johns Hopkins. Her long-term objectives are to become a leader in the field of gastrointestinal oncology with emphasis in genetics, outcomes and prevention. The Departments of Medicine and the Graduate Training Program are fully committed to the development of Dr. Cruz-Correa's career. This award will enable her to acquire the necessary skills to develop a successful career in clinical research under the guidance of her mentor, Dr. Francis Giardiello, her thesis advisor, Dr. Neil Powe and the additional mentorship of Dr. Andrew Feinberg, Dr. Gloria Petersen and Dr. Scott Zeger. The overall goal of this project is to characterize the role of loss of imprinting of the IGF-2 gene in colorectal cancer. LOI in colon cancer was found both in the tumor as well as in the normal mucosa of over 40 percent of the cases. This is the first time that a gene alteration has been described in such a high frequency in the norrnal tissue of cancer patients in the general population. This finding suggests that LOI in normal tissue could identify a subgroup of patients at risk of colon or other cancers. LOI has potential as a new biomarker for cancer predisposition in the colon and in extracolonic sites. An explorative study to evaluate the prevalence of LOI in people with normal colons, and those with colonic polyps and cancer is proposed using a cross-sectional study design, followed by a prospective cohort of patients with and without LOI of the IGF-2. Analysis of the fundamental characteristics of LOI in the IGF-2 gene will enable the determination of whether LOI at this locus is a risk factor for the development of colorectal cancer.