Half of those who could benefit from a life-saving cancer gene test are not eligible for the screening under the current rules, 30 leading cancer researchers announced at a joint news conference in Jerusalem.
The researchers called for more inclusive testing for the BRCA1 and BRCA2 gene mutations following a July 10-11 gathering hosted by the Soroka Medical Center and the Israel Healthcare Foundation.
Ashkenazi women are particularly frequent carriers of the gene mutations, which are closely associated with breast cancer, studies found.
The current rules only allow for people who report a family history of cancer to have the gene screening. Discovering the gene mutation early could give carriers the choice of possibly lifesaving measures, including prophylactic measures such as mastectomy.
“We found that if you are in certain groups that not having a family history does not mean that you should not be tested since you might have a cancer-causing mutation,” asserted Dr. Larry Norton, medical director at the Evelyn H. Lauder Breast Center at Memorial Sloan Kettering in New York City at a news conference following the conference. Norton chaired the conference.
According to studies, women carrying a BRCA mutation have up to an 85 percent chance of developing breast or ovarian cancer in their lifetimes, and men carrying the mutations are also substantially at risk.
“Indeed, testing all Ashkenazi Jews, as an example, finds twice as many people with mutations as testing just those with family histories,” Norton said. “This indicates that the rules for testing need to be changed. It also means that the psychological, medical and economic consequences of broader testing needs to be evaluated.
“Knowing that one has a dangerous mutation could well be life-saving,” he added, “since one can do things that minimize one’s risks.”
Norton added that the panel intends to write a follow-up paper summarizing findings and providing research about prophylactic procedures.
