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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

Current Research

  • ​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 to enhance cancer risk prediction models.
  • 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.

Breast cancers that occur frequently in families can be due to both genetic and environmental factors. A person’s genetic background can affect how his/her body responds to a range of environmental influences; from diet to common chemicals. Drs. Santella and Terry are conducting studies to understand the impact of environmental exposures in young girls from high-risk families to develop better risk prediction models and preventive strategies. 

Full Research Summary

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, which is a reversible chemical modification of 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 1040 young girls ages 6-13 years old from these high-risk families as well as from average-risk families.

Current studies are focused on polycyclic aromatic hydrocarbons (PAHs), common environmental pollutants. Exposures to PAHs is widespread from diet, smoking and air pollution. In an analysis of women in the BCFR study group, investigation showed that women who already have a high risk of breast cancer may have an even greater risk of breast cancer development when exposed to PAHs. 

The researchers suspect that the increased risk from PAH exposure is due to differences in DNA methylation. This year, they will use data from the LEGACY study to examine the effects of PAH exposure on age at full breast development and breast tissue composition in adolescents and young women and breast cancer risk in young women. 

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.

Large Researcher Headshot - Santella Regina

BCRF Investigator Since


Donor Recognition

The Aveda Award