2023-08-18 04:00:02
Led by Professor Jacques Simard from Université Laval and Professor Douglas Easton from the University of Cambridge, UK, this research has identified new genes associated with breast cancer risk, which might possibly be included in tests to identify women at increased risk.
Current genetic tests for breast cancer only take into account a few high-risk genes, such as BRCA1, BRCA2 and PALB2. However, these genes explain only a minority of genetic risk (Genetics (from the Greek genno γεννώ = to give birth) is…), suggesting that other genes have yet to be identified.
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The study identified at least four new genes associated with breast cancer risk and also demonstrated evidence of association for several other genes. The identification of these new genes will contribute to our understanding of the genetic risk of breast cancer. This new knowledge will make it possible to improve the prediction of the risk by better identifying the women presenting a higher risk of the disease (The disease is an alteration of the functions or the health of a living organism, animal, etc.). Consequently, screening approaches (Screening, in medicine, consists of the search for one or more diseases or…) of breast cancer, risk reduction and management (The payload ( payload in English; the payload) represents what is actually…) clinic will be more judicious.
The discovery of these new genes also provides crucial information on the biological mechanisms that underlie the development of cancer, thus opening the way to new therapeutic targets.
Improved patient care
The objective is to integrate this information into a comprehensive risk prediction tool currently used worldwide by health professionals. “Improving genetic counseling for women at high risk will promote shared decision-making regarding risk reduction strategies, screening and the determination of treatment options”, emphasizes Professor Jacques Simard, researcher (A researcher (fem. researcher) designates a person whose job is to do…) at the genomics center (Genomics is a discipline of modern biology. It studies the functioning…) of the Research Center (Scientific research designates in first of all all the actions undertaken with a view to…) of the CHU de Québec-Université Laval.
“Although most of the genetic variants identified in these new genes are rare, the risks can be significant for women who carry them. For example, alterations in one of these new genes, MAP3K1, seem to predispose to a particularly high risk of breast cancer,” adds Professor Simard.
The strength of the study lies in the genetic data used for the analysis. Genetic changes in all genes were analyzed in 26,000 women with breast cancer and 217,000 women without. These women came from eight countries in Europe (Europe is a land region that can be considered one…) and Asia.
“To our knowledge, this is the largest study of its kind. It was made possible through the use of data from multiple collaborators in many countries, as well as publicly available data from a biobank, the UK Biobank,” says Professor Douglas Easton, director of the Center for Genetic Cancer Epidemiology at the University of Cambridge.
Before this information can be used in a clinical setting, scientists need to confirm the results in other data sets. “We need (The needs are at the level of the interaction between the individual and the environment. It is…) additional data to determine more precisely the risks of cancer associated with the variants of these genes, to study characteristics of tumors and to understand how these genetic effects combine with other lifestyle factors that influence breast cancer risk,” says Professor Easton. To this end, the research team is currently pursuing a large-scale international effort.
The study by Naomi Wilcox of the University of Cambridge and her collaborators was published on August 17, 2023 in the journal Nature Genetics. This study was jointly supervised by Professors Jacques Simard and Douglas Easton.
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#Discovery #breast #cancer #susceptibility #genes
