Is Mammography Indicated for Women With Defective BRCA Genes? Implications of Recent Scientific Advances for the Diagnosis, Treatment, and Prevention of Hereditary Breast Cancer

Bernard Friedenson, PhD Department of Biochemistry and Molecular BiologyUniversity of Illinois ChicagoChicago, Illinois

In This Article

Introduction

About 5% of breast cancer patients have inherited their disease because of a mutation in genes encoding either the BRCA-1 or BRCA-2 proteins. Inheriting one of these mutations confers a 50% to 87% risk of breast cancer. Many physicians faced with such a patient would, at a minimum, suggest increased and earlier screening for breast cancer by routine mammography.[1] Normally, regular mammographic screening combined with appropriate and prompt treatment can reduce mortality from breast cancer by 30% in women aged 50-59 years and by about 14%-18% in women aged 40-49.[2]

There are no controlled clinical trials for screening young women who have multiple first-degree relatives developing breast cancer before age 45, or those known to carry BRCA-1 or BRCA-2 mutations.[3] In fact, recent advances point out that BRCA-1and BRCA-2 gene products are needed to repair radiation damage to DNA.[4,5] Based on this finding, I propose that women with defective BRCA genes are likely to have an inordinate sensitivity to radiation, and this raises a question about the advisability of routinely screening these women by frequent mammography.

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