Broader BRCA Mutation Gene Test May Help Some
By Dennis Thompson
THURSDAY, Aug. 13, 2015 (HealthDay News) — Some women with a family history of breast or ovarian cancer might benefit from a broader genetic test that includes more than 20 genes that have been found to increase cancer risk, a new study suggests.
Genetic tests have tended to focus solely on BRCA1 and BRCA2, the two genetic mutations that have been proven to dramatically increase a woman’s risk for breast or ovarian cancer, the researchers said.
But women who don’t carry BRCA1 or BRCA2 could still have another genetic mutation that is the source of a history of cancer in their families, explained study senior author Dr. Leif Ellisen, program director of the Center for Breast Cancer at Massachusetts General Hospital and a professor at Harvard Medical School, both in Boston.
Ellisen’s research concluded that a broad genetic test could help doctors better advise and treat about half of the women who have a genetic predisposition to cancer that’s not due to either BRCA1 or BRCA2.
“In the majority of women in which these other mutations were found — 52 percent of the group — you would actually make a different recommendation than you would based on personal and family history alone,” Ellisen said.
The study was published online Aug. 13 in the journal JAMA Oncology.
A recent and dramatic drop in the cost of genetic testing has sparked an ongoing debate about the positives and negatives of such testing, said Dr. Len Lichtenfeld, deputy chief medical officer for the American Cancer Society.
For example, a company called Color Genomics now offers a 19-gene test to help women gauge their risk of breast and ovarian cancer for only $249, he said. The company will even help women find a doctor who will order the test on their behalf.
But Ellisen said that such testing, done indiscriminately and without proper counseling, could promote a lot of fear and even prompt some women to undergo unneeded mastectomies or ovary removals.
“It has to be communicated in an accurate way,” he said. “If a woman comes in and she’s had a cancer scare, and you tell her she has this significant cancer risk gene, she might be tempted to go out and have one of these surgeries when the risk isn’t that high and it really isn’t warranted.”