Biography

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.

Research Interests

Germline Genomics

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.

Interviews

Dr. Stephen Chanock speaks with AACR on the progess of Genome-Wide Association Studies. For more information on this and other videos visit LTG multimedia

Useful Links

• NCI Core Genotyping Facility
• Cancer Genetic Markers of Susceptibility (CGEMS) Project CGEMS is a robust research program involving genome-wide scans for a number of cancers, including breast, prostate, pancreatic, lung, ovarian, bladder, and renal cell cancers.
• VariantGPS VariantGPS is a website that serves as a public portal to results generated from CGF's next-generation sequencing technologies, and also identifies and characterizes genetic variation in genes know to be important to the study of the underlying genetic causes of cancer. This site had previously been known as the SNP500Cancer website, and was described in a Nucleic Acids Research article.
• Genewindow Genewindow is a useful tool to assist investigators in the selection of variants for study in vitro, or in novel genetic association studies. See the article in Nature Genetics.
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Selected Publications

• Purdue MP, Johansson M, Zelenika D, Toro JR, Scelo G, [...],Chanock SJ*, Lathrop M*, Brennan P*. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nature Genetics 2011 Jan;43(1):60-5. Epub 2010 Dec 5. (*Co-last author)
• Chung CC, Ciampa J, Yeager M, Jacobs KB, Berndt SI, [...],Chanock SJ. Fine mapping of a region of chromosome 11q13 reveals multiple independent loci associated with risk of prostate cancer. Hum Mol Genet 2011.
• Rothman N, Garcia-Closas M, Chatterjee N, Malats N, Wu X, [...],Chanock SJ. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nature Genetics 2010 Nov;42(11):978-84. Epub 2010 Oct 24.
• Petersen GM, Amundadottir L, Fuchs CS, Kraft P, Stolzenberg-Solomon RZ, [...], Chanock SJ. A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. Nature Genetics 2010 Mar;42(3):224-8. Epub 2010 Jan 24.
• Kraft P, Wacholder S, Cornelis MC, Hu FB, Hayes RB, Thomas G, Hoover R, Hunter DJ, Chanock S. Beyond odds ratios--communicating disease risk based on genetic profiles. Nat Rev Genet. 2009 Apr;10(4):264-9
• Lou H, Yeager M, Li H, Bosquet JG, Hayes RB, [...], Chanock S. Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility. Proc Natl Acad Sci U S A.2009 May 12;106(19):7933-8. Epub 2009 Apr 21.
• Jacobs KB, Yeager M, Wacholder S, Craig D, Kraft P, [...], Chanock SJ*, Chatterjee N.A.* A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies. Nature Genetics 2009 Nov;41(11):1253-7. Epub 2009 Oct 4.(*Co-last author)
• NCI Publications (DCEG publications database)
• Publications in Pubmed