Gene mutation in some uterine tumors may signal that cancer runs in family.

2003 JUN 5 - (NewsRx.com & NewsRx.net) -- Testing younger women with endometrial cancer for mutations in a certain gene might help identify families at risk for inherited cancers, according to a study led by Washington University School of Medicine in St. Louis.

"The findings suggest that more women than previously thought carry mutations that signal an inherited susceptibility to cancer," said study leader Paul J. Goodfellow, PhD, professor of surgery and of obstetrics and gynecology. "They also may help explain why cancer seems to run in some families that lack mutations in other cancer susceptibility genes."

Goodfellow's team found that mutations in a gene known as MSH6 occur in at least 1.6% of women with endometrial cancer, a frequency comparable to that for the most common form of inherited colon cancer. Continuing studies suggest that mutations in MSH6 increase the risk that a woman and members of her family may have a higher-than-average risk for developing certain cancers later in life.

Once verified, the research could lead to changes in screening recommendations for some younger women with endometrial cancer and their families. The study is published in the Proceedings of the National Academy of Sciences.

Endometrial cancer is the most common gynecologic cancer and the fourth most common cancer in women. An estimated 39,300 women developed the disease last year, and 6600 women died from it.

"Presently, women under age 50 with endometrial cancer are treated as isolated cases of cancer, with no recommendation for greater surveillance of family members for an inherited cancer susceptibility," said senior author David G. Mutch, MD, the Ira C. and Judith Gall Professor in Obstetrics and Gynecology. "This study could help change that."

The investigators examined a consecutive series of tumors from 441 women with endometrial cancer. To determine which tumors were ...