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Discovering the causes of cancer and the means of prevention

Jonine Figueroa, Ph.D., M.P.H.


Jonine Figueroa, Ph.D., M.P.H.

Jonine Figueroa, Ph.D., M.P.H.

Organization:National Cancer Institute
Division of Cancer Epidemiology & Genetics, Hormonal and Reproductive Epidemiology Branch
Address:NCI Shady Grove
Room 7E122


Dr. Figueroa received her Ph.D. in molecular genetics and microbiology at the State University of New York at Stony Brook. In 2004, motivated by a desire to apply her basic research knowledge in the context of public health and molecular epidemiology, she pursued and completed an M.P.H. at Columbia University and subsequently an NCI Cancer Prevention Fellowship in the Hormonal and Reproductive Epidemiology Branch (HREB) of the Division of Cancer Epidemiology and Genetics (DCEG). Since 2008, she has been a Tenure-Track Investigator utilizing her interdisciplinary training to understand the etiology of breast and bladder cancers through an integrated approach that applies innovative molecular technologies to population-based studies. Dr. Figueroa’s high quality and impact of her work is marked by numerous awards including a Fellows Award for Research Excellence (FARE), a Keystone Symposium Scholarship for the meeting on Genome Stability and DNA repair, NCI Director’s Career Development and Principal Investigator Intramural Innovation Awards, and DCEG Intramural Research Awards.

Research Interests:

Markers of Breast Cancer Risk in Non-cancerous and Tumor Tissues

It is well recognized that breast cancer is a heterogeneous disease and using the data from the Case Control Study of Breast Cancer in Poland, Dr. Figueroa is performing genetic and molecular analyses to identify tumor markers related to etiologically distinct subtypes of breast cancer. Dr. Figueroa plays an active role in large international consortia and contributions of data from the Poland study and the Collaborative Breast Cancer Study  to these large pooling efforts, which have assembled the required large sample sizes needed to conclusively identify common genetic variants and other markers associated with breast cancer risk. Cumulatively, these efforts should provide robust relative risk estimates that could be used for subtype-specific risk prediction.

The scarcity of research on pathologic characteristics of breast cancers occurring in Africa, combined with incidence rates that are increasing, strongly support the need for accurate molecular classification of breast cancer in order to more reliably monitor breast cancer incidence in emerging African cancer registries, and to identify factors related to their occurrence. In 2013, Drs. Figueroa and Brinton launched the Ghana Breast Health Study (GBHS). Dr. Figueroa implemented rigorous quality control procedures for tumor tissue and biological sample collection to enable assessment of distinctive risk factor profiles for molecular subtypes of tumors. The GBHS will recruit ~2,000 cases (more than half are expected to be premenopausal) and ~2,000 population controls through 2015. Using data from the GBHS, Dr. Figueroa will focus on identifying markers of risk for molecularly defined tumor subtypes.

Few epidemiologic investigations have attempted to relate risk factors to changes in normal breast tissues, which could reveal early events in breast carcinogenesis and clarify distinct etiologic pathways to different molecular subtypes of breast cancer. Terminal duct lobular units (TDLUs), also referred to as lobules, are the structures within the breast that produce milk and the primary source of breast cancer precursors and cancers. With physiologic aging, TDLUs should involute, resulting in a reduction in acini (substructures) per TDLU and total TDLU counts, after childbearing years when TDLUs are no longer needed for their intended physiologic purpose of lactation. Lack of TDLU involution indicates a higher quantity of at-risk epithelium and potentially increased breast cancer risk.  Dr. Figueroa and collaborators have developed quantitative measures of TDLU involution and are annotating non-cancerous breast tissues acquired from various sources including healthy volunteers (via the Komen Tissue Bank), women with benign breast disease, and breast cancer cases. Cumulatively, this work should clarify the natural history of breast cancer and in turn may aid the development of improved strategies for risk prediction, prevention, and early detection.

Genetic Susceptibility to Bladder Cancer

Bladder cancer is an excellent model to study the complex interplay of genes and the environment because of the established causal role of smoking and occupational exposures to aromatic amines, along with evidence of gene-environment interactions. Dr. Figueroa and collaborators have conducted a GWAS of bladder cancer using primary-scan data on over 6,000 cases and 10,000 controls. The primary aim of the GWAS for bladder cancer is to identify novel genetic variants worthy of intensive pursuit in epidemiological, genetic mapping, clinical and laboratory investigations. Moreover, using the most promising genetic markers from the genome wide scans and replication studies, the GWAS for bladder cancer will establish a foundation for the investigation of gene-gene and gene-environment\behavioral interactions.

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Spotlight on Investigator

Read Jonine Figueroa's profile in the November 2011 Linkage newsletter.