Underutilized Genetic Tests Put Families at Risk

Data from the French National Cancer Institute showed an increase in testing for BRCA1/2 for breast and ovarian cancer, though not for the MMR mutation for Lynch syndrome.

Pascal Pujol, MD


A new study of the use of genetic testing for cancer-causing mutations in France has found that the uptake is low. An analysis of the data from the French National Cancer Institute from 2003 to 2011 showed an increase in testing forBRCA1andBRCA2for breast and ovarian cancer, though not for theMMRmutation for Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]).

Pascal Pujol, MD, head of the Cancer Genetics Department, Montpellier University Hospital, Montpellier, France, presented the findings at the annual conference of the European Society of Human Genetics on June 9, 2013.

Researchers analyzed 240,134 consultations and 134,652 genetic tests from patients across France who were referred for a predisposition to breast or colorectal cancer. Researchers found an increase from 2,095 tests per year in 2003 forBRCA1/2mutations to 7,393 tests in 2011. The increase in tests forMMRmutations was much smaller: 1,144 tests in 2003 to 1,635 tests in 2011.

“Given that such testing can provide many options to enable individuals to manage their cancer risk, it is vital to encourage awareness and acceptance among both the public and medical professionals,” Pujol said in a statement.

BRCA1/2gene mutations are believed to cause about 5% of all breast and ovarian cancers. ABRCAmutation increases a woman’s risk of having breast cancer by up to 87% by age 80, compared with an 8% risk in the general population. A woman with aBRCAmutation has up to a 63% risk of ovarian cancer.

Pujol said that in women over 40 years with aBRCAmutation, the removal of the ovaries can decrease overall cancer mortality by 20% and prophylactic mastectomy can reduce the risk of breast cancer by 90%. Patients who do not undergo prophylactic surgery can still see benefit from increased surveillance.

Patients with HNPCC have a 45% risk of developing colorectal cancer by age 70. Female patients with HNPCC have an increased risk of endometrial and ovarian cancers.

In familial colon cancer, Pujol said in the statement, screening with colonoscopy can decrease mortality.

Although the study was conducted in France, Pujol said that he believes the findings would be replicated worldwide.