The rates of gene tests for BRCA1 and BRCA2 mutations are up among female breast cancer patients ages 40 and below, reported a new article in a medical journal.
Eighty-seven percent — or 780 of 897 women with breast cancer at 11 academic and community medical centers — reported BRCA testing by a year after their disease diagnosis, while only 13 percent or 117 women had not undergone the genetic testing.
In the United States, breast cancer is the top cancer diagnosed in females under 40. Those diagnosed with the cancer at age 50 or below are recommended by guidelines from the National Comprehensive Cancer Network to undergo the gene tests, as carriers of BRCA mutations are more prone to developing early-onset breast cancer.
"Given that knowledge and concern about genetic risk influence surgical decisions and may affect systemic therapy trial eligibility, all young women with breast cancer should be counseled and offered genetic testing, consistent with the National Comprehensive Cancer Network guidelines," said the authors led by Dr. Ann Partridge of the Dana-Farber Cancer Institute in Boston.
The authors have found that the frequency of gene testing even increased over time. In 2006, 76.9 percent of those diagnosed reported testing - the rate slightly decreased the next year (70.2 percent), but the proportion of those tested in the following years climbed to 96.6 percent in 2012 and 95.3 percent in 2013.
Of the 780 subjects who underwent BRCA testing, almost 8 percent were revealed to have a BRCA1 mutation and 4.5 percent a BRCA2 mutation, while 4.6 percent came out with "an indeterminate result or variant of unknown clinical significance."
Of the untested group, 31.6 percent did not report that they discussed the possibility of a gene mutation with their doctor, while close to 37 percent were mulling on getting tested in the future.
Nearly 30 percent of tested subjects who reported a positive or negative outcome said that their knowledge of their genetic risk influenced their breast cancer treatment.
But why are more women getting BRCA testing?
According to the authors, it could be that most of those subjects were educated, insured and treated at centers with a lineup of accessible genetic testing and counseling services.
It could also be due to the so-called Angelina Jolie effect, with the massive media coverage of the genetic breast cancer risk that led the Hollywood actress to have bilateral mastectomy. This procedure, added the authors, was still quite common even among those who did not carry the genetic defect — a suggestion of the presence of worry and the search for peace of mind even without being a non-carrier.
Experts considered this good news. "This is great, it's heartening," said Dr. Jeffrey Weitzel, City of Hope director of clinical cancer genetics in California.
He added, though, that disadvantaged American women may not have the same access to genetic testing as these largely while, well-educated, and insured women. The reach of this genetic testing in the country should be expanded, urged Weitzel, who also co-authored an editorial published with the research.
The findings were published in JAMA Oncology.
Photo: Håkan Dahlström | Flickr