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Would you get genetic testing if it could help determine if you're at risk for getting breast cancer?


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8/22/2015
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Being that breast cancer is one of the leading causes of death in American women today, experts are emphasizing the importance of taking preventative measures now more than ever before. What does this include?

Fox news reports on the new information. Researchers are emphasizing the importance of getting breast cancer gene tests so that women know if they have a genetic predisposition towards getting breast cancer.

Some doctors say that when the results of a test would not change how doctors manage a patient’s care, it is not worth doing. Fox news reports, “But new tests for breast cancer risk mutations beyond the well-known BRCA genes would offer actionable information for many women and their doctors, a new study finds.”

Many experts are now emphasizing the importance of the BRCA1 and BRCA2 gene mutations, because they put women at an increased risk for breast, ovarian and other cancers, but mutations of other genes are also believed to confer greater risk.

Dr. Leif W. Ellisen of Massachusetts General Hospital Cancer Center in Boston commented on the new study and whether people should get tested. He said, “There’s a lot of controversy even among experts. 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.”? Dr. Ellisen authored the study.

In the last fifteen years, at-risk women have only been tested for BRCA1 and 2, but many companies now offer multi-gene panels for 20, 25 or 30 other genes. 

Are these tests helpful? 

The new results show that at least for some women, it would indeed alter their clinical management.

How was the study conducted? 

Researchers did panel tests between 2001 and 2014, for 25 or 29 genes on 1,046 women who were referred for hereditary breast or ovarian cancer gene testing, but had tested negative for BRCA mutations. The majority of the women had a personal history of breast or ovarian cancer already in their families.

The experts found that 40 women, or 4 percent of the total group, did have harmful mutations in other genes. Out of those 40 women, 26 had mutations carrying low to moderate threat of breast or ovarian cancer, eight had mutations associated with Lynch syndrome, which heightens colon and ovarian cancer risk, and three had increased risk of breast cancer genes.

What were the final results? 

Researchers reported that including another twenty-three patients who were referred into the study at a late stage; there were sixty-three women who tested positive for non-BRCA mutations. 

“Of those, the researchers decided that 33 would have been considered for additional screening or prevention measures based on their results. And for many, family testing would be recommended for first-degree relatives, according to the report in JAMA Oncology,” according to Fox.

Dr. Ellisen said that even among all appropriate candidates who are sent for genetic testing, only nine percent would test positive for the BRCA mutations, so an additional four percent who have non-BRCA mutations is not a small number. He also said that these additional women often do not have a great risk of breast or ovarian cancer, but some do have a high risk of colon or uterine cancer, and would be referred for additional screening. And multigene testing is not more expensive than regular testing.

Many women are ordering these multigene tests today in order to take extra precaution. But some doctors warn that the tests should be used with caution as a false positive could have difficult effects such as an unnecessary surgery.

Read the source article here.



Category: Misdiagnosis and Failure to Diagnose


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