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Discovering the causes of cancer and the means of prevention

Sonja Berndt, Pharm.D., Ph.D.

Senior Investigator

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Spotlight on Investigator

""Read Sonja Berndt's profile in the March 2013 Linkage newsletter.

Sonja Berndt, Pharm.D., Ph.D.

Sonja Berndt, Pharm.D., Ph.D.

Organization:National Cancer Institute
Division of Cancer Epidemiology & Genetics, Occupational and Environmental Epidemiology Branch
Address:NCI Shady Grove
Room 6E126


Dr. Berndt received a Pharm.D. from the University of Michigan, and a Ph.D. in epidemiology from Johns Hopkins University. She joined DCEG in 2003 as a pre-doctoral fellow, becoming a post-doctoral fellow in 2006 within the Occupational and Environmental Epidemiology Branch. In 2009, Dr. Berndt was appointed to the position of tenure-track investigator. She was awarded scientific tenure and promoted to senior investigator in March 2017. She has received several awards for her work, including an NCI Intramural Research Award, NCI Director’s Career Development Award, and several DCEG and NIH Fellowship Achievement awards for excellence in research.

Research Interests

Dr. Berndt’s research utilizes new analytic methods in molecular epidemiology to elucidate genetic risk factors for cancer. She serves as the principal investigator representing the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial for several cohort consortia. Within the Genetic Investigation of Anthropometric Traits (GIANT) Consortium she is studying genetic variants related to obesity, height and other anthropometric traits. For the Breast and Prostate Cancer Cohort Consortium (BPC3), African American Prostate Cancer (AAPC) consortium, and PRACTICAL consortium, she focuses on identifying genetic variants associated with prostate cancer risk and early detection. Dr. Berndt is currently co-leading genome-wide association studies of prostate cancer and non-Hodgkin lymphoma to discover additional variants that may affect the risk of these cancers. In addition, she is leading molecular studies of colorectal neoplasia to help elucidate the etiology of colorectal cancer.

Genetic epidemiology of anthropometric traits

Within the GIANT consortium, Dr. Berndt co-led a large-scale meta-analysis of genome-wide association studies (GWAS), which confirmed 14 genetic loci associated with obesity and discovered 18 new loci associated with body mass index. She and her colleagues have expanded their research to explore gender differences in obesity, the effects of genetic factors on body mass index in early adulthood, and the genetic architecture of both clinical and extreme obesity. In addition to the further discovery of additional loci for body mass index, future plan include fine-mapping of known loci to gain a greater understanding of their role in obesity. As part of the GIANT consortium, Dr. Berndt is also conducting studies of genetic variants associated with height. Height may serve as a marker of increased exposure to growth hormones, androgens, and other factors that stimulate cell growth and proliferation. Dr. Berndt and her collaborators have identified close to 200 loci associated with genetic variance in height, providing significant insight into the underlying genetic architecture of this complex trait. She plans to conduct a polygenetic analysis of height variants and several cancers to evaluate the extent to which these variants may contribute to cancer risk.

Prostate Cancer

As part of the Cancer Genetic Markers of Susceptibility (CGEMS) initiative, BPC3, AAPC and PRACTICAL, Dr. Berndt and collaborators have identified several genetic loci associated with prostate cancer risk through genome-wide analyses. Dr. Berndt plans to utilize new genotyping technology to identify additional novel loci, and to conduct fine-mapping analyses of the discovered regions to identify potential genetic variants for follow-up functional studies. She and her colleagues are also particularly interested in genetic variants in the KLK3 region, which encodes prostate-specific antigen (PSA). They plan to study the association between these variants and PSA levels among men in the PLCO Cancer Screening Trial. Dr. Berndt is also investigating other genetic markers and regions not well captured by current genotyping platforms to determine if they also contribute to risk.

Colorectal Cancer

Dr. Berndt has followed up several genetic variants discovered to be associated with colorectal cancer to determine if they are also associated with colorectal adenoma, a known precursor to colorectal cancer. She is conducting a meta-analysis of GWAS of colorectal adenoma to discover additional loci associated with adenoma. Dr. Berndt is also evaluating potential gene-environment interactions between known environmental risk factors and related genes and the risk of colorectal adenoma and cancer. She and her collaborators have analyzed serum levels of insulin-like growth factor 1 (IGF1) and reported that individuals within a PLCO case-control study with the highest levels of IGF1 were at an increased risk of colorectal adenoma, as compared to individuals with the lowest IGF1 levels. Dr. Berndt plans to continue to investigate genetic variants in the IGF pathway, as well as additional biomarkers related to obesity to elucidate the interplay between obesity, insulin, insulin-like growth factor, and the risk of colorectal cancer. Through PLCO, she is also involved in the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) and is the Principal Investigator representing PLCO in a genome-wide association study of colorectal cancer among African Americans.

Non-Hodgkin Lymphoma

Although GWAS have revealed genetic loci for chronic lymphocytic leukemia and follicular lymphoma, genetic variants for other subtypes of non-Hodgkin lymphoma (NHL) or NHL overall have not been comprehensively studied on a genome-wide level. As the co-Principal Investigator of a new large GWAS for NHL, Dr. Berndt seeks to identify genetic loci associated with the most common NHL subtypes, including diffuse large B-cell lymphoma, follicular lymphoma, chronic lymphocytic leukemia/small-lymphocytic lymphoma, marginal zone lymphoma, and mantle cell lymphoma. She also plans to use genotype data from the 1000 Genomes Project to identify potential secondary signals, which may improve the understanding of the genetic architecture of this disease and to conduct pathway analyses to explore underlying biologic mechanisms for NHL.