Research

Research Programs

Cancer Genetics

Program Members | Contact

Although we don’t think of most cancers as occurring in a hereditary setting, there is increasing recognition that rare disease genes and more common genetic variants contribute to cancer risk, even in cancers with established environmental causes.  The long term mission of this program is to expand our ability to identify genetic susceptibility, to enhance screening strategies and clinical management of susceptible individuals, and to develop chemoprevention and rational drug therapy based on the molecular genetics of cancer.  Understanding derived from research in hereditary cancer nearly always has applications in the general population.  An important thrust of this program is epidemiologic study of hereditary cancer genes at the population level.  Specific goals of the program are to:

• Identify novel hereditary cancer predisposition genes
• Characterize their function and determine how mutations in these genes lead to cancer
• Determine whether somatic mutations of these genes are important in sporadic cancer
• Measure the prevalence of the genes in populations
• Examine environmental-genetic interactions
• Pursue the development of rational therapeutic and preventive drugs 
• Apply new scientific finding to genetic counseling and testing

The Cancer Genetics Program was founded in 1995 as a developing program with Yale Cancer Center seed money.  The Program membership has nearly doubled since its inception and includes 15 faculty members representing eight departments and two schools.  The breadth of activities of this program includes basic science to translational research to clinical studies.  Our main areas of focus are: 

• Elucidating the function of cancer-related genes, often using lower organisms.  An example of this type of work was a recent study on how cancer metastasizes and what genes are involved.  Most of this work was done by modeling metastastic cancer in fruit flies (Dr. Xu). 
• Translational studies including large-scale epidemiology to elucidate the association of genes and cancer risk.  Translation also includes studies of treatment outcomes in hereditary vs. non-hereditary forms of cancer.  One study of this type, done in collaboration with the Radiobiology Research Program, showed that therapeutic radiation of breast cancer in patients with BRCA1 or BRCA2 mutations is effective and does not increase the risk of additional cancers (Dr. Claus).
• Clinical studies examine different models for providing genetic counseling and testing as well as clinical trials in genetically susceptible individuals that focus on prevention (Ms. Matloff). A clinical trial using a novel chemopreventive agent was done in patients with a hereditary form of skin cancer, the gene for which was discovered at Yale (Dr. Bale). 

Program Members

Allen E. Bale, MD, Program Director; Professor of Genetics

Linda Bartoshuk, PhD, Professor of Surgery and Psychology

Jean Bolognia, MD, Professor of Dermatology

Elizabeth B. Claus, MD, PhD, Associate Professor of Epidemiology
and Public Health

Gary Kupfer, MD, Associate Professor of Pediatrics and Pathology

David Leffell, MD, Professor of Dermatology

Ellen T. Matloff, MS, Associate Research Scientist, Genetics

James M. McGrath, M., PhD, Research Scientist, Genetics

William Philbrick, PhD, Associate Professor of Internal Medicine

Harvey A. Risch, MD, PhD, Professor of Epidemiology and Public Health

Peter E. Schwartz, MD, Professor of Obstetrics and Gynecology

Stefan Somlo, MD, Professor of Internal Medicine

Robert Udelsman, MD, Chairman and William H. Carmalt Professor of Surgery

Tian Xu, PhD, Professor of Genetics

Hongyu Zhao, PhD, Associate Professor of Epidemiology and Public Health

Contact
Allen Bale, MD, Program Director
(203) 785-5749
allen.bale@yale.edu