Predicting the risk of breast cancer from a simple saliva sample is now possible, announce researchers from Université Laval and the CHU de Québec-Université Laval Research Center (Canada). In an international study published in the journal Genetics in Medicine this January 15, they explain how they managed to estimate “With unparalleled precision” the risk of a woman developing breast cancer, by combining her genetic data (obtained from the saliva test), family history, hormonal factors and lifestyle habits.
A personalized approach
“Several hundred researchers around the world have pooled the DNA samples collected in their respective projects”, Explain in a press release one of the designers of the method, Professor Jacques Simard from the CHU de Québec-Université Laval research center. The researchers then compared the genome of 94,000 women who had suffered from breast cancer to that of 75,000 unharmed women. They have thus developed a “Polygenic risk score”, based on the 313 genetic variations discovered and subsequently validated on 220,000 patients.
They now hope that this prediction method, called BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm), could open the door to the personalization of breast cancer screening protocols. “It will be possible to establish an individual risk for each woman and offer her a personalized screening approach, regardless of age., develops the teacher. She will only need to provide a saliva sample once in her life when she has reached, for example, the beginning of her forties. ” For the moment, the disease is mainly detected by mammography.
Acceptability, feasibility and efficiency
Before the statistical model is integrated into the screening protocols, a pre-implantation project will be held next spring with 5,000 women aged 40 to 69 in Quebec and 5,000 women in Ontario. The objective is to evaluate its effectiveness, but also to investigate the way in which the test is perceived by the participants. Because by analyzing more genes – other than the BRCA1 and BRCA2 mutations – the risk of obtaining a positive result increases. Isn’t such a test likely to cause more anxiety in women? This is what the researchers will try to find out.
Read also :
- Breast cancer: 6 tips to reduce your risks
- Breast cancer: discovery of a new gene