Jonine Figueroa, Ph.D. M.P.H.
|Organization:||National Cancer InstituteDivision of Cancer Epidemiology & Genetics, Hormonal and Reproductive Epidemiology Branch|
|Address:||Executive Plaza SouthRoom 5006|
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.
It is hypothesized that breast cancers arise from the transformation of normal tissues into cancer precursors, which may over time progress to in situ and invasive cancers. Epidemiologic investigations have identified a number of risk factors for breast cancer, including low and high penetrance gene mutations/polymorphisms, menstrual and reproductive factors, radiation, mammographic density, anthropometric characteristics, and to a lesser degree alcohol intake and diet. However, the mechanisms that mediate these risk factors and markers of their effects remain poorly characterized. Our research focuses on delineating the mechanisms and markers related to breast cancer risk factors, which in turn may aid the development of improved strategies for risk prediction, prevention, and early detection.
Much of our work has focused on identifying and validating markers related to breast cancer risk using data and samples collected from the Polish Breast Cancer Study (http://dceg.cancer.gov/hreb/research/breast). We are employing agnostic approaches, such as those utilized in genome-wide association studies (GWAS) and molecular tumor tissue profiling, as they may highlight potential pathways associated with disease etiology and other outcomes (such as prognosis and treatment). It is well recognized that breast cancer is a heterogeneous disease, and HREB investigators, along with others, have shown risk predictors are dependent on various clinical characteristics, including hormone receptor status such as estrogen receptor (ER). Using this knowledge and classification of molecular subtypes of breast cancer, we are performing focused molecular epidemiology studies by subtype, especially for ER-negative disease, which tend to be aggressive and occur in young women, where few risk factors or markers have been identified.
Few epidemiologic investigations have attempted to relate risk factors to molecular changes in breast tissues from women who have not been diagnosed with breast cancer. The availability of tissues from epidemiologically characterized women volunteers without disease, represents a major barrier to this work, but represents a critical piece that is needed to unravel early events in breast carcinogenesis. To pursue this work, we are collaborating with the Susan G. Komen® for the Cure Tissue Bank (KTB) at the Simon Cancer Center at Indiana University (http://dceg.cancer.gov/hreb/research/breast), to assess how established genetic, lifestyle, and hormonal risk factors affect the morphology and molecular characteristics of the terminal duct lobular unit (TDLU), the basic functional unit of the breast from which nearly all cancers arise from. The KTB collaboration offers the possibility of relating risk factors to characteristics of TDLUs from non-cancer patients, which may enable us to determine the mechanisms by which risk factors act on epithelial cells prior to tumor development.
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. We are currently conducting 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.