Multigene testing for additional breast cancer mutations yielding useful results

With endless testing yielding a low percentage of helpful information, experts say new tests for breast cancer are providing actionable information for women and their doctors.

THE BRCA1 and BRCA2 gene mutations are what put women at a higher risk for breast, ovarian and other cancers. But they are not the only mutated genes that experts believe lay the groundwork for similar extra risk, according to Reuters.

A large group of genetic experts earlier this year argued against testing for a wider panel of breast cancer-related mutations. They insisted that until it is proven they are valid and useful in clinical practice, there is no need.

“There’s a lot of controversy even among experts,” said the senior author of the new study, Dr. Leif W. Ellisen of Massachusetts General Hospital Cancer Center in Boston.

For the past 15 years, women at a high risk have been tested only for BRCA1 and 2. But current information has led many companies to offer multi-gene panels for up to 30 other genes, said Ellisen.

“Are patients better off getting these much broader tests?” he said. “Does it actually change what you would tell them to do in terms of screening, prevention, or risk management?”

The answer was yes. According to new results, for some women these additional tests could change their clinical management.

The research team did panel tests for 25 or 29 genes on 1,046 women between 2001 and 2014. The participants were referred for hereditary breast or ovarian cancer gene testing, even though they had already tested negative for BRCA mutations.

From the study, 40 women had harmful mutations in other genes. Of those women, 26 of them had mutations with a low to moderate risk of breast or ovarian cancer. And eight of them had mutations similar to those with Lynch syndrome that increases colon and ovarian cancer risk, while three had high-risk breast cancer genes found.

Of the entire group that was sent for genetic testing, only nine percent tested positive for BRCA mutations. But, with an additional four percent not having BRCA mutations was still a significant number for them.

Even without having a high risk of getting breast or ovarian cancer, they still had a high risk of colon or uterine cancer in which they could then be sent for additional screenings.

And to support multigene testing, researchers pointed out that it is not more expensive than the BRCA mutation testing on its own, therefore, a reasonable option that could save more lives.

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