Testing for more breast cancer genes offers useful information

However, women who do not carry either of these genes could still have another genetic mutation that acts as a source cancer in their family, according to Massachusetts General Hospital Center for Breast Cancer program director Dr. Leif Ellisen.

THE BRCA1 and BRCA2 gene mutations are what put women at a higher risk for breast, ovarian and other cancers. Of those women, 26 of them had mutations with a low to moderate risk of breast or ovarian cancer. In nearly one-third of these patients (20 of 63), the identified mutations were considered high-risk – including mutations associated with Lynch syndrome, which increases risk of colorectal, ovarian and other cancers.

But not much is known about the cancer risk posed by all these other genes, the cancer experts said.

Between 2001 and 2014, the study team did panel tests 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 authors included an additional 23 patients in the study’s clinical management analysis and results indicate that among 63 women positive for mutations, the majority of them (33 women [52 percent]) would be considered for additional disease-specific screening and/or prevention measures beyond those based on personal and family history alone.

“Yet thousands of women and their physicians are ignoring this advice, ordering a wide selection of multiplex tests daily”, Swisher writes.

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 for many, family testing would be recommended for first-degree relatives, according to the report in JAMA Oncology. And doctors without proper training in genetics might find it hard to provide quality information for patients.

THE BRCA2 gene mutation is often called the “Jolie gene” after actress Angelina Jolie had a double mastectomy two years ago after finding out she had the gene.

Lichtenfeld agreed, adding that, “in practical terms, the question is, are we ready for this in the everyday practice of medicine?” He added that the genetic testing must be combined with the woman’s personal and family history to produce a nuanced assessment of her cancer risk.

Once more is known about all of these genes, there may come a day when genetic testing becomes a broad standard of care for all people, starting with a test conducted on newborns, Lichtenfeld said.