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Jun 10, 2013

Study: Genetic Testing Uptake within Cancer-Affected Families Remains Low

  • Though it can point to options for individuals to manage their cancer risk, take-up of genetic testing for cancer-causing mutations in affected families in France remains very low, Montpellier University Hospital’s Pascal Pujol, M.D., Ph.D., has found.

    Sharing an analysis of French National Cancer Institute collected between 2003 and 2011 at the European Society of Human Genetics annual meeting being held in Paris, Dr. Pujol said that while there has been a substantial increase in testing for breast and ovarian cancer-associated BRCA1 and BRCA2, the same could not be said for the MMR mutation, which is implicated in a form of colorectal cancer.

    Dr. Pujol and his colleagues studied more than 240,000 consultations and nearly 135,000 genetic tests from patients referred for a predisposition to breast or colorectal cancer, finding an increase in testing for BRCA1/2 from 2,095 a year in 2003 to 7,393 in 2011, and a smaller jump for MMR mutation testing— from 1,144 to 1,635 a year during the same period.

    “While the increase in BRCA testing is encouraging, it is far from optimal,” Dr. Pujol said. “And the uptake of MMR testing for Lynch syndrome—responsible for 5% of all colorectal cancers—is frankly disappointing.”

    Overall, only a third of relatives of individuals with either mutation underwent genetic testing themselves, Dr. Pujol said.

    “It is vital to encourage awareness and acceptance among both the public and medical professionals.…Removal of the ovaries in women over 40 years old who carry a BRCA mutation decreases their overall cancer mortality by 20%, and prophylactic mastectomy can reduce the chances of breast cancer in women carrying such a mutation by around 90%,” he said in a statement.

    He added that individuals who do not wish to undergo prophylactic surgery can benefit from increased surveillance. “For familial colon cancer, screening by colonoscopy has been shown to decrease mortality,” Dr. Pujol said. “It is therefore regrettable that so few people seem to be aware of the benefits of genetic testing in families with a history of breast, ovarian, or colorectal cancer.”


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