The Vanderbilt Hereditary Cancer Registry
The hereditary nature of cancer has been noted for many years. Between five to ten percent of cancers are due to hereditary cancer syndromes. Family characteristics suggesting a hereditary cancer predisposition include multiple affected relatives, development of cancer at younger than average age, multiple primary cancers in a single individual, and the occurrence of certain rare cancers.
Developments have been made in the identification of genes which predispose to cancer, and over 50 hereditary cancer syndromes have been identified to date. However, despite these advances the genetic basis of the cancer in many high risk families cannot be determined, and inter- and intra- family variation in cancer penetrance with known syndromes suggest that there are additional genetic modifiers which may contribute to cancer risk. Optimal methods of screening for and preventing tumors in high-risk families also need to be established.
While hereditary cancer syndromes are rare, these families often serve as important models for the development of sporadic cancers. For example, the APC gene was identified through the study of families with familial adenomatous polyposis (FAP), and somatic APC mutations are found in approximately 80% of sporadic adenomas. Research on rare predisposition syndromes often provides insight for understanding the basic biology of cancer. Due to the increased risk for malignancy, high-risk cohorts are also excellent resources for efficiently studying the outcomes of screening approaches, identifying biomarkers associated with cancer development and evaluating the effectiveness of chemopreventive agents.
The overall purpose of this registry is to identify genetic factors that predispose to tumor development and affect outcomes. Correlation of clinical data with management outcomes, assessment of pedigree data and analysis of genomic and tumor DNA from high risk families will allow us to identify and characterize inherited factors that predispose to cancer variants. Discovery of genetic factors which predispose to malignancy will improve the identification of high-risk individuals and lead to the development of tailored management approaches.
The Vanderbilt Hereditary Cancer Registry is now open for enrollment.
For more information, or if you would like to participate in one of our studies, please contact our project manager:
Renee Ashworth, B.S.
Clinical Research Coordinator I
Clinical and Translational Hereditary Cancer Program
Vanderbilt University Medical Center
1500 21st Ave South Suite 100
Nashville, TN 37212