By mapping each woman’s genetic risk profile, we can have more accurate mammography screening and reduced mortality from breast cancer. This is the opinion of researchers in Sweden, Estonia and Portugal who jointly run the study Bright (Be RIGHT with Breast Cancer Risk Management).
– In the long term, it counts we with achieving a 20 to 40 percent reduction in cancer-related mortality in the age group 40 to 49 years, says researcher Inna Feldman in a press release.
She is a health economist and project manager for the Swedish part of the study, which the Academic Hospital in Uppsala leads.
Want to reduce mortality from breast cancer
The purpose of the study is to develop a method that is better at detecting breast cancer early than today’s standardized mammography screening for all women in a certain age group.
– Another important thingt goal of the new method is to optimize the use of healthcare resources by ensuring that interventions are more efficiently assigned to those who need it most, emphasizes Inna Feldman.
The Bright study started in 2022. Yesterday, the researchers presented the first preliminary results at a seminar in Uppsala.
Gene combinations increase the risk
In the Swedish part of the study, 800 women aged 30-49 participate. The women do not carry any of the known single mutations that greatly increase hereditary breast cancer risk (for example BRCA1 or BRCA2).
In this project, it is a different type of genetic breast cancer risk than these individual mutations that are being looked for. Instead, it is about certain specific combinations of gene variants, combinations that have been linked to an increased breast cancer risk.
The gene variants can be spread over several chromosomes and together create the risk profile, the researchers speak of a polygenic risk for breast cancer.
May reduce breast cancer mortality
In the Bright study, the researchers use a new commercially available genetic test developed by the Estonian laboratory Antegenes. A DNA sample is taken with a cotton swab from the mouth of the participants.
The test analyzes DNA and assesses each woman’s personal genetic predisposition to breast cancer. Based on that information, the woman receives tailored recommendations about screening and other preventive measures.
The researchers believe that this can mean that women at increased risk can start going for mammograms earlier so that breast cancer is detected in time to cure it. In this way, genetic testing can lead to reduced mortality from breast cancer.
Surprisingly many are at high risk
According to the preliminary results presented at the seminar, roughly 16 percent of all women aged 30-49 have a genetically increased breast cancer risk. Their risk is then higher than the average risk for 50-year-old women.
– We are surprised that so many young women showed an increased genetic risk of breast cancer. With the increased risk, concerned women are recommended to book a consultation at the breast cancer clinic to discuss individually adapted screening strategies and preventive measures, says Inna Feldman.
Calls for better screening
In the press release, Andreas Karakatsanis, chief physician at the chest clinic at the Academic Hospital in Uppsala, also speaks out. He believes that the current age-based approach to breast cancer screening is inadequate:
– It is not appropriate to screen all women in the same way. Breast cancer is partly due to genetic factors, so the starting point must be the woman’s individual genetic risk for breast cancer. For this, genetic tests are used with which we find women with an increased risk, so that they can come for examination in time.
The study runs from 2022-2024. It receives support from the European Commission via the EIT Health initiative.
