In a recent discovery, scientists have linked 110 genes to an increased risk of breast cancer. These are really important findings. It's urgent to unravel how the genetic changes in the building blocks of our DNA influence a woman's risk of breast cancer, and this study adds another vital piece to this jigsaw.
The study used a genetic technique to analyse maps of DNA regions linked to an inherited risk of breast cancer and identify the actual genes involved in raising a woman's risk.
Finding the genes responsible for the increased risk is not a straightforward task. Small sequences of DNA interact with completely different parts of the genome through a strange phenomenon called 'DNA looping'.
But the researchers used a technique they developed called Capture Hi-C to study interactions between different regions of the genome.
The study - published in Nature Communications - uncovered which specific genes were involved and how that might increase a woman's risk of developing breast cancer.
The researchers found that some of the 63 regions of the genome were physically interacting with genes more than a million letters of DNA code away.
They were able to identify 110 new genes that could potentially be causing an increased risk of breast cancer across 33 of the regions they studied. In the remaining 30 areas, they were unable to find any specific genes.
One third of the target genes for which they had patient data were also linked to survival in women with receptor-positive breast cancer, suggesting they play an important role in the disease.
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Scientists studied DNA loops in cells from four different types of breast cancer and normal, healthy cells to find out which genes were consistently involved in looping interactions.
Most of the 110 genes found in the study had not been linked to breast cancer risk before, and further work will be needed to determine the extent of their role in the disease.
The scientists studied how DNA forms loops to allow physical interactions between a DNA sequence in one part of the genome and a risk gene in another. Identifying these new genes will help to understand in much greater detail the genetics of breast cancer risk. Ultimately, this could pave the way for new genetic tests to predict a woman's risk, or new types of targeted treatment.
More women are now being diagnosed with breast cancer than ever before, and these crucial findings could ultimately help accurately predict who is most at risk and develop new targeted treatments.
Many of these genes have been relatively undocumented to date and there's hope for further research that will untangle their exact role in breast cancer risk.
Large-scale genomic studies have been instrumental in associating areas of DNA with an increased risk of breast cancer. This study brings these regions of DNA into sharper focus, uncovering a treasure trove of genes that can now be investigated in more detail.
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