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

Dr. Sonja Berndt’s research utilizes new analytic methods in genetic and molecular epidemiology to elucidate the etiology of cancer and anthropometric traits and explores the impact of modifiable risk factors on cancer risk and mortality. She co-leads several genome-wide association studies (GWAS) and the PLCO Prostate Cancer Progression (PCP) Study. She is a member of the InterLymph Consortium Coordinating Committee and serves as the principal investigator representing the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial for the Genetic Investigation of Anthropometric Traits (GIANT), Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL), African American Prostate Cancer (AAPC), Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), and Helicobacter pylori Colorectal Cancer (HpCRC) consortia.

Lymphoid Malignancies

Genetic, environmental, and immune-related factors have been implicated in the etiology of non-Hodgkin lymphoma (NHL), but the complex etiology of this disease is not well understood. To elucidate the genetic underpinnings of common NHL subtypes, Dr. Berndt co-led a large multicenter genome-wide association study (GWAS) for NHL and identified over 30 new independent single nucleotide polymorphisms (SNPs) associated with specific subtypes of NHL, more than doubling the number of identified loci for NHL and discovering a key role for apoptosis in CLL susceptibility. She is currently expanding the GWAS to include additional rare and common lymphoid malignancies. The expanded GWAS will double the sample size for discovery and lead to further exploration of the genetic architecture of lymphoid malignancies. Her research also uses next generation sequencing and bioinformatic tools to fine-map discovered risk loci and molecular technologies to further understand potential biological mechanisms.

Prostate Cancer

Both environmental and genetic factors are thought to contribute to the risk of prostate cancer. Over the past decade, through the work of Dr. Berndt and others, substantial progress has been made in identifying genetic loci associated with the risk of prostate cancer with over 150 loci discovered to date. Dr. Berndt’s research seeks to understand the genetic architecture of prostate cancer susceptibility, explore potential effect modification by environmental and occupational risk factors, and examine how these factors may be used in risk prediction and screening for prostate cancer. Although prostate cancer is one of the most common cancers in the world, only a small proportion of men die from the disease. Understanding and predicting which men are likely to die from the disease is of clinical importance to prevent overtreatment. Dr. Berndt co-leads a study of prostate cancer progression within the PLCO Cancer Screening Trial, which seeks to identify environmental, lifestyle and molecular risk factors for disease progression.

Anthropometric Traits

Although the biological mechanisms are not well understood, obesity and height are risk factors for several cancers. Both anthropometric traits have strong genetic components. Through the GIANT Consortium, Dr. Berndt and colleagues have identified hundreds of loci for height and adiposity-related traits (e.g., body mass index). This work has a had profound impact on our understanding of the genetic architecture of these traits as well as other diseases, but many questions remain. Dr. Berndt’s research seeks to further understand the genetic underpinnings of anthropometric traits and to examine the impact of adiposity on cancer risk and mortality.

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.