Endometrial cancer patients in Kentucky have a higher rate of DACH1 mutations

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The study shows that endometrial cancer patients in Kentucky have a higher rate of DACH1 mutations

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This is a study that is interesting because the reasons why some patients with uterine cancer have far worse survival is elusive.  It is known that certain cell types can be more aggressive, like papillary serous (UPSC) and clear cell, but even in those, there is a difference in outcomes that has yet to be explained.  This sheds some light on at least one possible reason and provides a possible targeted therapy strategy as well.  The study was performed on patients in Kentucky but this may apply to patients in other areas as well, which remains to be determined.

“A new study by researchers at the University of Kentucky’s Markey Cancer Center shows that DACH1 mutations are widespread in endometrial cancer patients in Kentucky, suggesting that DACH1 could be a potential biomarker for future immunotherapy studies.

DACH1 is a transcriptional repressor and tumor suppressor gene that is commonly mutated in other cancers, including melanoma, bladder and prostate cancers. Loss of DACH1 expression is also linked to poor prognosis and decreased survival in women with uterine cancer.

The study, published in PLOS One, attempted to determine the frequency of DACH1 mutations in patients with endometrial cancer in Kentucky. Using the Oncology Research Information Exchange Network (ORIEN), a personalized medical consortium that Markey joined in 2017, researchers examined clinical and genomic data from 65 Kentucky patients with endometrial cancer. The data was compared to the endometrial cancer population from the National Cancer Institute’s cancer genome atlas, which contains genomic data from more than 22,000 diagnosed primary cancers from across the country.”

For More information:
McKayla J. Riggs et al. The frequency of DACH1 mutations in endometrial cancer is associated with a high burden of tumor mutations, PLOS ONE (2020). DOI: 10.1371 / journal.pone.0244558 Provided by the University of Kentucky

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