Inherited Susceptibility to Endo CA

Inherited Susceptibility to Endometrial Cancer More Common than Thought

NEW YORK May 14, 2003 (Reuters Health) - Findings from a new study investigating genes involved in DNA mismatch repair suggest that an inherited susceptibility to endometrial cancer may be more common than previously thought.

"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," senior author Dr. David G. Mutch said in a statement. "This study could help change that."

Dr. Mutch, from Washington University School of Medicine in St. Louis, and colleagues evaluated 441 endometrial cancers for defective DNA mismatch repair. Of these tumors, 100 were evaluated for MSH6 mutations.

The authors reasoned that MSH6 mutations could account for some cases in which defective repair is present but the cause of this failed repair is unknown. The researchers' findings are published in the May 13th issue of the Proceedings of the National Academy of Sciences.

Of the 441 tumors evaluated, 137 demonstrated some degree of defective mismatch repair. The 100 tumors tested for MSH6 mutations included 70 with defective repair and 30 without defective repair.

Of the 70 tumors with defective repair, 30 did not show MLH1 promoter methylation--a common finding when defective repair is present. MSH6 germline mutations were identified in 7 (23.3%) of these tumors. On average, mutation carriers were about 10 years younger than other patients (p = 0.04).

Somatic MSH6 mutations were present in 17 of the 100 tumors tested, and all demonstrated defective repair, the authors note.

"Based on the evidence from this study, we concluded that mutations in the MSH6 gene may increase the risk of developing certain malignancies," Dr. Mutch noted. "Molecular testing can determine which women with endometrial cancer have the mutation, and genetic testing can determine which family members also carry the mutation."


Proceedings of the National Academy of Sciences 2003;May 13th issue.

Thanks to Reuters Health

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