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Regina M. Santella, PhD
Professor and Vice Dean for Faculty Affairs and Research and Environmental Health Sciences
Director, Center for Environmental Health in Northern Manhattan
Director, Cancer Epidemiology Program,
Herbert Irving Cancer Center
Columbia University Mailman School of Public Health
New York, New York
Seeking to improve breast cancer risk models for high-risk families.
Studies are ongoing to measure exposure to chemical pollutants and non-genetic changes to DNA that can be a result of both biologic and environmental exposures.
This work will lead to better risk prediction models in high-risk individuals by incorporating biomarkers of environmental exposures, genetic susceptibility and non-genetic alterations to DNA.
Drs. Santella and Terry are pursuing multiple approaches to better understand how environmental factors influence breast cancer risk in high-risk families. One way they measure environmental impact is by looking at DNA methylation– a chemical modification to DNA. Changes in DNA methylation can affect gene expression, including genes implicated in cancer.
They are studying women and young girls participating in two studies: Breast Cancer Family Registry (BCFR), a cohort of families at high risk for breast and ovarian cancer, and LEGACY, a cohort of young girls from these high-risk families as well as from average-risk families.
In an analysis of women in the BCFR group, studies suggest that women who already have a high risk of breast cancer may have an even greater risk of breast cancer when exposed to the environmental pollutant, polycyclic aromatic hydrocarbons (PAHs). They suspect this is due to differences in DNA methylation. This year, the research team will expand their studies in young girls from high-risk families and from average-risk families to see if differences in DNA methylation can be detected at an early age.
They also have plans to extend these studies to Taiwan where breast cancer incidence has risen by more than 50 percent in the last decade.
Ultimately, their goal is to improve risk prediction and modification by incorporating biomarker data and genetic susceptibility into current risk models.
Regina M. Santella, PhD, is a Professor of Environmental Health Sciences, and Director of the NIEHS Center for Environmental Health in Northern Manhattan. She is a laboratory-based biochemist with extensive experience in the area of chemical carcinogenesis and molecular epidemiology. Her research is mainly focused on the use of biomarkers of exposure and genetic susceptibility to understand risk for cancer development. Her laboratory has developed antibodies and immunoassays to a number of carcinogen-DNA and protein adducts and uses these methods to determine exposure to environmental carcinogens. Other assays have been used to understand genetic susceptibility related to DNA repair capacity. More recently, her laboratory is investigating the use of epigenetic markers including global and gene specific methylation and microRNA expression in breast tumors and white blood cells to identify those at increased risk or as early biomarkers of disease. Breast cancer studies take advantage of two large sample banks, the Long Island Breast Cancer Study Project, a population-based case-control study and the Breast Cancer Family Registry of members of high risk families.