Estrogen Receptor 1 Gene, Adiposity, and Breast Cancer Risk

Heather Ochs-Balcom, PhD, is investigating the genetic mechanism underlying the association of a specific estrogen receptor and breast cancer risk.

Title: Estrogen Receptor 1 Gene, Adiposity, and Breast Cancer

Principal Investigator: Heather Ochs-Balcom, PhD

Funding Agency
: National Cancer Institute (NCI)

Period: 09/17/09 - 10/31/14

Abstract: We are conducting a genetic association study to evaluate the association of ESR1 genetic variation (single nucleotide and copy number variation) and breast cancer risk. We will also examine the association of ESR1 variants and adiposity with tumor characteristics, and investigate whether adiposity is related to differences in ESR1 copy number between germline DNA and tumor DNA samples. The specific aims will be accomplished using an existing case-control study of breast cancer in Western New York and also data from the Women’s Health Initiative.