Skip to Main Content

COVID-19 is an emerging, rapidly evolving situation.

What people with cancer should know:

Get the latest public health information from CDC:

Get the latest research information from NIH:

Principal Investigator
Jirong Long
Vanderbilt University Medical Center
Position Title
Associate Professor
About this CDAS Project
PLCO (Learn more about this study)
Project ID
Initial CDAS Request Approval
Sep 1, 2020
DNA methylation and breast cancer risk
Breast cancer is the most common malignancy among women in the US and many other parts of the world. Studies have suggested that epigenetic factors may play an important role in common human diseases including breast cancer. DNA methylation is one of the most frequent and well-characterized epigenetic modifications, reflects at the molecular level a wide range of environmental exposures and genetic influences. DNA methylation plays a critical role in transcriptional regulation of genes and miRNAs, control of alternative promoter usage, and alternative splicing. Studies suggested that DNA methylation plays a crucial role in the initiation and promotion of breast carcinogenesis. DNA methylation alterations have been studied in ~100 candidate genes in breast tumor tissues. Studies have shown that DNA from blood samples could be used to identify methylation markers associated with human diseases, including breast cancer. However, large gaps in knowledge remain as to how human epigenetic modifications relate to breast cancer. Therefore, investigating the relationship between DNA methylation levels across the genome and disease risk in multiple racial groups may discover novel biomarkers and racial disparity of breast cancer. In this study, we will investigate the relationship between DNA methylation and breast cancer risk in prospective design in European-ancestry and African-ancestry women using the data from the Prostate, Lung, Colorectal and Ovarian (PLCO) and the Southern Community Cohort Study (SCCS).

Aim 1: Investigate DNA methylation markers and signatures with breast cancer risk in European-ancestry and African-ancestry women.

Aim 2: Investigate methylation age and breast cancer risk in European-ancestry and African-ancestry women.

Aim 3: Investigate Immune cell proportion (estimated from methylation data) and breast cancer risk in European-ancestry and African-ancestry women.


Qiuyin Cai, Vanderbilt University Medical Center