COMMENTARY | New research has uncovered that mutations in the PPM1D gene is associated with an increased risk of breast cancer and ovarian cancer. Unlike BRCA1 and BRCA2 mutations, the PPM1D mutation is not inherited. Instead, the mutation only shows up in the blood when breast cancer or ovarian cancer is present. Medical News Today quotes professor Nazneen Raham assaying, "This is one of our most interesting and exciting discoveries."
Important discovery
PPM1D mutations are very important. Because of the way they show up in the blood, if you have this mutation you have a 1 in 5 chance of developing breast cancer or ovarian cancer. That is almost twice the average risk for breast cancer and it is 10 times the risk for ovarian cancer. Knowing if you carry this mutation will help women decide on imaging and other preventative treatments. Right now, the only genetic test we have is the BRCA test. As PPM1D shows, BRCA is not the only gene mutation that indicates and increased risk for breast or ovarian cancers.
The study
Unlike many recent studies that have so few participants it makes the data questionable, this study looked at 7,781 women with either breast cancer or ovarian cancer and compared the PPM1D gene to 5,861 women from the general population. This allows the results to be statistically significant because they looked at so many different results. What the study showed is that in the group of women who had cancer, the researchers found 25 faults in the PPM1D gene. In the group of women without cancer only one fault was found. From a statistical standpoint, those results are quite amazing.
This study proves that newer, more detailed gene sequencing is needed to help determine cancer risks. This is especially true for ovarian cancers, sometimes called the silent killer, because most times this type of cancer is not caught until very late stages. Women with a family history of breast cancer or ovarian cancer need more weapons for detection in their arsenal. BRCA testing alone does not cut it. In my case, I have a family history of cancer but no identified genetic issues, like BRCA. I wonder how many lives testing for PPM1D could save.
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