Developing a Molecular Analysis for Early Onset Breast Cancer

Bruce Haffty, M.D.,Professor, Department of Therapeutic Radiology

Breast cancer initially occurring in those at a young age (less than 42 years old) has unique biological characteristics compared to later onset disease. However, the genetic and molecular characteristics of early onset breast cancer that set it apart from later onset breast cancer have not been extensively examined. In an attempt to understand the genetic contribution to early onset disease, Dr. Haffty previously tested patients for the breast cancer susceptibility genes, BRCA1 and BRCA2, and found that these genes do incur increased risk for recurrence of cancer in the untreated breast. In this follow-up study, he expanded on that work by analyzing the primary tumor specimens of patients with early stage, early onset breast cancer. These tissues were examined for several molecular markers commonly expressed in breast tumors and associated with the biological activity of the cancer cells.

Highlighted Study Findings

This study found that specific molecular markers in the tumors of young women with breast cancer were related to BRCA1 and BRCA2 status. This relationship was even stronger in young women with a particular type of cancer (intraductal cancer) compared to older women. Additional research then found a surprisingly high frequency of BRCA1 and BRCA2 mutations in Korean women.  Yet, despite the high frequency of mutations found, the rate of breast cancer was much lower in Korean women than in American women. Furthermore, family members of the women with mutations had a low frequency of breast and ovarian cancer. This suggests that another factor (genetic or environmental) may account for the onset of the disease in American populations.  Work in this area continues, building on the findings of Dr. Haffty’s initial studies.