Researchers have identified a combination of two gene mutations that link to endometrial cancer, according to a new study.
“More than 63,000 women are likely to be diagnosed with endometrial cancer this year, making it the most commonly identified type of gynecologic cancer,” says Ronald Chandler, an assistant professor of obstetrics, gynecology, and reproductive biology in the College of Human Medicine at Michigan State University.
As reported in Nature Communications, researchers found that mutations of the ARID1A and PIK3CA genes are frequently found together in the development of endometrial cancer, as well as in endometriosis-associated ovarian cancer.
The findings could lead to better, more targeted treatments to help fight the disease.
ARID1A is a tumor suppressor. When it mutates, chromatin, cellular material that keeps DNA compacted in cells, loses its structure, allowing cancer to spread. PIK3CA is an instructional gene that tells the body to produce certain proteins and leads to uncontrolled growth of cells when it mutates.
Similarly, these same mutations often are found in women who have endometriosis—a painful condition in which uterine tissue grows outside the uterus—but many of those affected never develop endometrial cancer.
“We’re trying to understand why some women with the same set of mutations get cancer and some don’t,” Chandler says. “There is something else involved.”
Endometrial cancer commonly occurs in women after menopause, suggesting that other factors, such as hormonal changes, environmental exposures, or obesity, could combine with the mutations to trigger cancer.
“The hardest part of our job is figuring out what’s causing it,” Chandler says. “Is it something in the environment or it is something else? It’s a complex process. These are big questions that we’re trying to address.”
Through a collaborative effort, Chandler’s team provided genetic material to the Van Andel Institute. VAI researchers then analyzed the samples with a next-generation sequencer, a machine that rapidly sequences the human genome. This helped identify which gene mutations were associated with the cancer.
“Ten years ago, this research would not have been possible,” says coauthor Marie Adams, VAI’s genomics core manager. “Next-generation sequencers are powerful new tools we can use to process large-scale projects and provide actionable results in weeks as opposed to years.”
Additional researchers are from Michigan State and VAI’s Center for Epigenetics. The Mary Kay Foundation and the Ovarian Cancer Research Fund Alliance funded the work.
Source: Michigan State University