New Genes Found in Uterine Cancer

Uterine serous carcinoma gene discovery may improve treatments in the future

/ Author:  / Reviewed by: Robert Carlson, M.D

(RxWiki News) Modern cancer research continues to show that it’s the genetic mutation at the root of the tumor that must be dealt with to effectively eliminate the cancer. The same is true for aggressive uterine cancer.

A recent study looked at the gene sequences of aggressive uterine cancer tumors. Researchers discovered three genes that play a key role in making this type of uterine cancer tough to treat and beat. Knowing what genes are responsible could help direct the future of treatment developments.

"Talk to a doctor about your cancer treatment options."

Alessandro D. Santin, MD, professor of Obstetrics, Gynecology and Reproductive Sciences at the Yale School of Medicine, and Richard P. Lifton, MD, PhD, chair of genetics at Yale and Howard Hughes Medical Institute Investigator, worked with a team to investigate aggressive uterine cancer.

Uterine serous carcinoma is a particularly aggressive and difficult to treat type of uterine cancer.

For the study, 57 women with uterine serous carcinoma had a bit of their cancer tumors removed so researchers could perform a whole-exome DNA sequence on each of the cancer samples along with normal tissue samples from the same women. Whole-exome DNA sequencing shows what types of DNA live in the cells.

In five of the samples, an unusual 3,000 or more mutations were found in the genes. In 52 of the samples, less than 100 mutations were found, 14 of which were known to be common to uterine serous carcinoma. 

Dr. Santin said, “We have clearly identified the mutations that are responsible for uterine serous carcinoma tumors. In addition to a number of well-known cancer genes, we found three genes that had not previously been associated with cancer that are found in these tumors. This finding points to new pathways that could be important in developing therapies down the road.”

Two genes, CHD4 and MBD3, were discovered in one of the cancer cell proteins in the tumor samples. These two genes play a part in turning regions of the gene map on or off. Genes turning on, off or mutating has a great deal to do with cancer growth.

Researchers claimed to have been most surprised by the discovery of the third gene, TAF1, which is responsible for rewriting a large part of the protein codes in the reproduction of genes.

The authors concluded that the genes found in the uterine serous carcinomas point to frequent mutations of DNA damage in the cell cycle that contribute to the tumor growth. Understanding the presence of these particular genes may provide a new direction for treatments for this very aggressive form of uterine cancer.

The better doctors understand the genetic mutations of cancer cells, the more focused and effective cancer treatments can become.

This study was published in January in the Proceedings of the National Academy of Sciences of the United States of America (PNAS).

Gilead Sciences Inc., the National Institutes of Health and the Howard Hughes Medical Institute provided funding for this study. No conflicts of interest were found.

Reviewed by: 
Review Date: 
January 28, 2013
Last Updated:
January 31, 2013