The Reporter: December 1997, Vol.8, No.5
Research notes
Breast Cancer Susceptibility Gene

 Mutations in the gene P-TEN can increase awoman's risk of breast cancer, according to a study by P&S scientists. The findings identify the third breast cancer susceptibility gene; the other two genes are BRCA1 and BRCA2. The study was a collaboration between Dr. Monica Peacocke, P&S associate professor of medicine, and Myriad Genetics in Salt Lake City.

 The P-TEN gene is located on chromosome 10, whose role in the development of various sporadic cancers has been investigated for nearly a decade. Dr. Peacocke and colleagues made their discovery while searching for the genetic basis of Cowden's syndrome, a little-known dermatological disorder. The autosomal dominant syndrome, which affects mainly women, causes skin rashes, tiny wart-like bumps, thyroid disease, and beginning in the teen-age years-severe benign fibrocystic disease. By their 40s, 50 percent to 75 percent of women with Cowden's syndrome develop breast cancer.

 "Cowden's syndrome is an under-recognized and under-diagnosed disorder. The identification of this gene will allow us to develop screening tests so that these women can follow early detection and prevention strategies and get prompt treatment of breast cancer," says Dr. Peacocke.