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Uterine Cancer May be Clue to Inherited Syndrome

s Program. Participants in the study were diagnosed and treated for endometrial cancer at the three major hospital systems in Columbus, Ohio, between 1999 and 2003.

To learn the frequency of Lynch syndrome mutations among all newly diagnosed endometrial cancer patients, the researchers tested tissue from the tumors from each patient for MSI (microsatellite instability), a change in the DNA of tumor cells that occurs in more than 90 percent of Lynch syndrome tumors. Of the 543 tumors tested, 118 showed MSI. Because these patients are more likely to have Lynch syndrome, they participated in the gene testing portion of the study and nine (1.8 percent) were found to have Lynch syndrome mutations.

In addition, the researchers used another technique called immunohistochemistry, to prescreen the tumors for mutations. Follow-up gene testing performed on patients with abnormal immunohistochemistry results showed that one additional woman with an MSI-negative tumor also had a Lynch syndrome mutation.

Of the 10 Lynch syndrome patients, seven did not meet the usual criteria for diagnosing the hereditary condition. That diagnosis is largely based on family history and age. Ordinarily, these seven cases would have gone undiagnosed.

In addition, the counseling and testing of 21 relatives of the 10 women with Lynch syndrome revealed 10 additional people with Lynch syndrome mutations.

The study is the continuation of an Ohio State colon cancer study also led by de la Chapelle that was published in the New England Journal of Medicine in 2005. In that study, 2.2 percent of newly diagnosed colon cancer patients tested positive for Lynch syndrome.

That study recommended testing all newly diagnosed colon cancer patients for the inherited syndrome, Hampel said. As a result, Ohio State University Medical Center now routinely screens all newly diagnosed colon cancer patients to find those most likely to have Lynch syndr
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