In women with ovarian cancer, screening for genetic mutations associated with cancer is recommended. These mutations could guide clinical care, but only a third of these patients would benefit from this test.
Ovarian cancer is a silent cancer, whose symptoms appear late. This is why the diagnosis is often made at an advanced stage, where it becomes difficult to cure. Genetic research then makes it possible to adapt care, by predicting the body’s responses to a treatment, but also to predict the risk of developing other tumours. In addition, it makes it possible to identify families “at risk” of developing this cancer (just like for breast or prostate cancer). But this genetic research is still too little practiced, as demonstrated by this study, carried out by researchers at Stanford University School of Medicine and published in the Journal of Clinical Oncology April 9.
According to their research, less than a quarter of breast cancer patients and a third of breast cancer patients ovarian cancer, diagnosed between 2013 and 2014, underwent genetic screening test for mutations associated with cancer. This study was conducted among approximately 83,000 women diagnosed with breast or ovarian cancer in California and Georgia in 2013 and 2014. These results reveal significant differences between national testing guidelines and actual testing practices: too few women with ovarian cancer are tested for genetic mutations, when it could be used to guide care decisions and better monitor other women in the family.
Recommendations not implemented
Researchers have known for decades that mutations or inherited variations in certain genes, including BRCA1 and BRCA2, increase the risk of developing breast or ovarian cancer. Genetic testing for mutations in BRCA1 and BRCA2 has been available for several years. But since 2013, interpreting the results has become much more complicated for doctors, as the tests have incorporated many more potential cancer susceptibility genes. Nevertheless, national guidelines recommend that all women with the most common type of ovarian cancer be tested for cancer-associated mutations. However, it is not known to what extent these recommendations are followed by health professionals.
“We initiated this study – the largest population-based study of multigene testing in patients with breast and ovarian cancer – because we wanted to know how cancer genetic tests are used and their results in the real world,” said Allison Kurian, associate professor of medicine and health and policy research at Stanford. “We can now see that women with ovarian cancer are far from being tested enough. We also learned that between 8 and 15% of women with breast or ovarian cancer carry cancer-associated mutations that could be used to guide care decisions and influence the health care of family members. .”
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