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Uterine cancer may be associated with inherited mutations and a risk of many cancers

A new study has indicated that women with endometrial cancer should be examined for inherited mutations that could mean a risk factor of many other cancers//. The findings of the study show that 1.8 percent, or about one in 50, recently diagnosed endometrial cancer patients experience mutations for Lynch syndrome, which is an inherited condition also known as hereditary nonpolyposis colon cancer, or HNPCC.

People with Lynch syndrome mutations are at high risk for colon, endometrial, and ovarian and gastric cancer. Endometrial, or uterine, cancer is the most common cancer in women with this condition.

The study, led by researchers at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James), is published in the Aug. 1 issue of Cancer Research.

The study is the first to comprehensively screen a large number of women with uterine cancer for Lynch syndrome mutations, said Heather Hampel, a genetic counselor in the clinical cancer genetics program and first author of the study. "It's important to identify women with one of these mutations because they have a very high risk for developing colon cancer, and they may not be aware of that risk," said Hampel. "Because this is hereditary, half of her siblings and children may also be at risk for the syndrome.

"For this reason, the relatives of a person with Lynch syndrome should also be screened for the responsible gene mutation," said Hampel, a clinical assistant professor in the department of internal medicine.

Family members who also have the mutation need close monitoring for early cancer detection, including an annual colonoscopy starting at age 25 and endometrial cancer screening (using ultrasounds and biopsies) starting at age 30, Hampel said.

Family members without the mutation can follow the American Cancer Society's guidelines for colorectal cancer s
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