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Women with family history but negative BRCA test still at high risk for breast cancer

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AACR Frontiers in Cancer Prevention Research

Women with a family history of breast cancer but a negative test for BRCA mutations had a fourfold risk of developing breast cancer according to data from a prospective study.

Researchers from the University of Toronto and Women’s College Research Institute estimated breast cancer risk in 1,492 women from 365 families. These women all had two or more relatives who developed breast cancer before age 50 or had three or more relatives with breast cancer at any age. All tested negative on the proband test for BRCA1 and BRCA2 mutations.

Six years after genetic testing, 65 women in the study had developed breast cancer, compared with 15.2 cases that the researchers projected based on provincial cancer registries (SIR=4.3).

“Rather than being told that they were at the risk of the average woman, which would be 8% or 10%, they were given a risk that was roughly 30% to 40%,” Steven Narod, MD, Canada research chair in breast cancer at University of Toronto and Women’s College Research Institute, said during a press briefing.

SIR was highest for women aged younger than 40 years (SIR=14.9) and decreased as age increased, according to the researchers. Absolute risk was higher for women aged 50 to 70 years compared with women aged 30 to 50 years — 1% per year vs. 0.4% per year.

“The BRCA1 and BRCA2 test has revolutionized our ability to predict high risk in women with potential for breast cancer, but there still remains a huge amount of genetically predisposed women out there whose risk is very high,” Narod said. “We as a community of physicians should be more supportive of the idea that they need ongoing care and further risk assessment. And we need to be making sure that they’re getting optimal screening.” – by Tina DiMarcantonio

For more information:

• Narod S. #B7. Presented at: AACR Seventh Annual International Conference on Frontiers in Cancer Prevention Research; Nov. 16-18, 2008; Washington.