Genetic tests to identify people at risk of developing breast or colorectal cancer are underused. A French study reveals that only a third of people look for the BRCA1 and 2 mutations.
Angelina Jolie’s announcement of her mastectomy may well be one of the best breast cancer public health campaigns in recent years. The media coverage of this intervention should indeed help raise awareness of the risks posed by BRCA1 and BRCA2 mutations on women who are carriers. And this boost will not be a luxury. A French study, presented on June 9 at the congress of the European society of human genetics in Paris, reveals that families at risk of developing cancer do not perform the genetic tests they should. Data from the National Cancer Institute show that the number of genetic tests to identify BRCA1 and BRCA2 mutations has increased by 3.5 between 2003 and 2011 but “it is far from optimal”, estimates Prof. Pascal Pujol, oncogeneticist at the Montpellier University Hospital.
And the situation is even worse for MMR mutations. People who have it are at high risk of developing colorectal cancer or endometrial cancer. However, during the same period – between 2003 and 2011 -, the number of tests only increased from 1144 to 1635. For Professor Pujol, “participation in screening for the MMR mutation – which is responsible for 5% of colorectal cancers – is frankly disappointing ”.
In fact, in a family that carries one of its two mutations, only a third of that family’s members undergo genetic testing. “It is extremely worrying that such a simple test, which has the potential to spare entire families from a devastating disease, is so underutilized,” regrets the author of this study. Knowing that you are a carrier of such a mutation effectively prevents the risk of cancer. A woman over 40 with a BRCA mutation who chooses to have her ovaries removed drops her cancer death rate by 20%.
This underuse of genetic tests is therefore a waste of opportunity. Professor Pujol therefore believes that “we must urgently launch a major program to raise awareness of all the actors concerned, through medical training, information programs for patients and their families, public health campaigns and improvement. genetic counseling ”.
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