Is mammography indicated for women with defective BRCA genes? Implications of recent scientific advances for the diagnosis, treatment, and prevention of hereditary breast cancer.
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. 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. In fact, recent advances point out that BRCA-1 and 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.
Friedenson
B
B
University of Illinois Chicago, Department of Biochemistry, Chicago, Illinois, USA.
D000328:Adult; D001943:Breast Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics*; D004249:DNA Damage / Q000235:genetics; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D006801:Humans; D008327:Mammography / Q000009:adverse effects* / Q000706:statistics & numerical data; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009381:Neoplasms, Radiation-Induced / Q000209:etiology; D012307:Risk Factors