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| Image from NationalBreastCancer.org |
The researchers focused on a recently identified hot spot for breast cancer located on Chromosome 9 using a technique called fine-mapping. They were looking for single base pair differences in the DNA that would be more commonly found in women with breast cancer than without. They found that women with the genetic variant called rs10816625 had a 12% increased risk for developing ER+ breast cancer that women without this variant, and women with the other variant called rs13294895 had a 9% increased risk. Both are risk factors for European women, but only rs10816625 affects Asian women. Now that these variants are known, they can provide further insight into how this cancer develops. Scientists currently believe that these variants control the activity of the gene KLF4, which is thought to control cell proliferation and growth.
How can these findings be used for good? Well, these novel genetic variants could be incorporated into future screening processes, to help women understand their risks. Maybe further research can uncover how these risk factors can be reduced. Maybe better treatments for breast cancer can be developed once researchers figure out more specifics about how the cancer develops...etc. The future is always uncertain, however, progress in this field always brings me hope for a future where more people are cancer-free.
How can these findings be used for good? Well, these novel genetic variants could be incorporated into future screening processes, to help women understand their risks. Maybe further research can uncover how these risk factors can be reduced. Maybe better treatments for breast cancer can be developed once researchers figure out more specifics about how the cancer develops...etc. The future is always uncertain, however, progress in this field always brings me hope for a future where more people are cancer-free.
If you are interested in learning more about these findings, ScienceDaily breaks down this study so that it is much easier for the average person to understand than reading the study itself.
Posted by Ashley Condon Group A
This discovery is great, definitely provides much needed hope for all women who have been effected. I feel like a lot of cancers are more heriditary than previously thought, scientists just have to find all these genetic variants. But, is there any timeline of when this variant might be added to screenings?
ReplyDelete-Carolyn McDonagh
Thank you for your comment Carolyn, I agree with you on your thoughts. I did look into your question about the timeline for implicating these variants into the breast cancer screening process. There is no set timeline yet considering how recent these findings are, but adding them to the screening processes is definitely one of the next steps for these variants.
Delete-Ashley Condon
Its always a little scary to me when a single base pair mutation can have such great consequence. That being said it's good to see advancements in our ability to screen for cancer.
ReplyDeleteThis comment has been removed by the author.
DeleteSingle base pair mutations are indeed scary if you think about it. One little mistake can cause disaster in the body. According to Wikipedia: "the rate of human genomic mutation is ~2.5×10−8 per base per generation." Such a small chance for mutation gives me little comfort though. Just because the odds are small doesn't mean that they don't happen.
Delete-Ashley Condon