(February 24, 2016) Research led by Dr. Elizabeth Swisher at the University of Washington, funded in part by OCRFA and published this month in JAMA Oncology, shows that mutations in the gene PPM1D in women with ovarian cancer are the result of aging and chemotherapy exposure. Click here to read the abstract.
Previously, somatic mosaic mutations in PPM1D had been reported in patients with breast, lung, and ovarian cancer, but their cause or effect had not been established. There was fear that the presence of the mutation might put them at high risk for breast and ovarian cancer, but this study of nearly 700 women shows that the PPM1D mutation is likely a result of treatment for their cancer, and not related to a predisposition to ovarian cancer. In contrast, somatic mosaic mutations in TP53 were not significantly associated with chemotherapy or age.
Another study in Journal of the National Cancer Institute, also published this month, found essentially the same result. More studies are needed to follow whether the development of these mutations in blood cells has any clinical implication, but at this time there are no data to suggest that they increase the risk of cancer.