Stephen J. Chanock, M.D.
|Organization:||National Cancer InstituteDivision of Cancer Epidemiology & Genetics, Laboratory of Translational Genomics|
|Address:||8717 Grovemont CircleATC Room 134D|
Dr. Stephen Chanock is a leading expert in the discovery and characterization of cancer susceptibility regions in the human genome. He has received a number of awards for his scientific contributions to our understanding of common inherited genetic variants associated with cancer risk and outcomes.
Dr. Chanock received his M.D. from Harvard Medical School in 1983 and completed clinical training in pediatrics, pediatric infectious diseases, and pediatric hematology/oncology and research training in molecular genetics at Boston Children’s Hospital and the Dana-Farber Cancer Institute, Boston. From 2001-2007, he served as a tenured investigator in the Genomic Variation Section of the Pediatric Oncology Branch in the NCI Center for Cancer Research. Previously, he served as co-chair of NCI's Genetics, Genomics and Proteomics Faculty for five years. In 2001, he was appointed as the Director of the Core Genotyping Facility, and in 2007 as Chief of the newly formed Laboratory of Translational Genomics, both within the intramural Division of Cancer Epidemiology and Genetics program. He has co-lead the Cancer Genetic Markers of Susceptibility (CGEMS) project.
The first wave of genome-wide association studies (GWAS) has lead to the discovery of many inherited, or germline, cancer-associated common genetic variants that now require basic biologic investigation. The majority of the GWAS association signals map to non-coding regions of the genome, but are located close to plausible candidate genes. Most regions identified thus far are specific to one type of cancer, though there are also several regions that point towards shared mechanisms across different types of cancers. Fine mapping of regions is required to identify the most promising candidate variants for follow-up studies using next generation sequencing approaches together with annotated datasets of common variants. The interrogation of GWAS signals requires extensive bioinformatic follow-up to prioritize variants, which may require consideration of unannotated transcripts, and regulatory elements, as well as functional elements for novel transcripts. Regulatory effects are queried with respect to the alteration of gene levels, epigenetics, and long-ranging effects on other genes at a distance.
My lab is investigating biologic mechanisms that could explain the direct association of variants with cancer susceptibility. Currently, effort is focused on regions that influence regulatory elements, either in close proximity to candidate genes, the impact of microRNAs (miRNA) variants acting upon fragile chromosomal sites, and epigenetic effects across multi-susceptibility regions.
Dr. Stephen Chanock speaks with AACR on the progess of Genome-Wide Association Studies.
Jun Fang, MD, PhD, Staff Scientist
Lea Jessop, PhD, (Biologist/Lab Manager)
Renee Chen, MA, (Biologist/Lab Manager)