Extractions: Scientists Discover New Breast Cancer Susceptibily Gene The study, published in the Nov. 1 issue of the American Journal of Human Genetics, was a collaboration between Columbia University scientist Dr. Monica Peacocke and Myriad Genetics in Salt Lake City, Utah. The P-TEN gene, also called MMAC1, is located on chromosome 10. The role of this chromosome 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, associate professor of medicine and dermatology at the Columbia-Presbyterian Medical Center. Cowden's syndrome may also increase a woman's risk of endometrial cancer. Therefore, women with the genetic mutation who also have breast cancer might not be candidates for treatment with tamoxifen, which itself can increase the risk of endometrial cancer.
[Biomedical Frontiers:Fall:96] The Cowden's-Breast Cancer Link CPMC researchers say that cowden s syndrome a dermatological disorderis anunderrecognized cause Breast pathology is unique in cowden s syndrome. http://www.cumc.columbia.edu/news/frontiers/archives/biomed_v4n1_0002.html
Extractions: The Cowden's-Breast Cancer Link When Mary Smith (not her real name) was 16 years old, she found a lump in her breast. "My mother was terrifiedshe thought it was cancer," says Smith, now 53. "But in those days, no one talked about cancer. So even though I was scared that I had to have surgery, I didn't know the overwhelming possibilities." Since that surgery, Smith has had a seemingly endless series of cancer scares and actual bouts with cancer: four biopsies for suspicious breast lumps, a lumpectomy followed by a mastectomy, a hysterectomy, partial nephrectomy for what turned out to be a benign mass, and now, in 1996, another mastectomy. CPMC researchers say that Cowden's syndrome Breast pathology is unique in Cowden's Syndrome. Smith does not have the BRCA1 or BRCA2 breast cancer genes. Instead, she suffers from a little-known disease called Cowden's syndrome (CS; also known as multiple hamartoma syndrome)an autosomal dominant disorder characterized by various skin lesions and a high risk of both breast and thyroid cancer. The medical literature describes CS as a rare disease associated with marked disfigurement. But according to CPMC's Dr. Monica Peacockewho is collecting the genetic pedigrees of people like Mary SmithCS is in fact fairly common, not generally disfiguring, easily missed by many doctors, and an under-recognized cause of many cases of familial breast cancer.
Cowdens Syndrome Offers information and message boards for families and patients affected by the disease. http://groups.msn.com/cowdenssyndrome
Extractions: var nEditorialCatId = 102; MSN Home My MSN Hotmail Shopping ... Money Web Search: document.write(' Groups Groups Home My Groups Language ... Help Cowdens Syndrome cowdenssyndrome@groups.msn.com What's New Join Now Welcome general messages ... Tools This web site has been formed to provide communication between patients and family members of rare genetic diseases Cowdens Syndrome and Bannayan Riley Ruvalcaba Syndrome. Both diseases are caused by mutations of the PTEN gene To join this group you must have Cowdens Syndrome, Bannayan Riley Ruvalcaba Syndrome or be a family member to someone with one of these diseases. We also welcome medical professionals. This group has medical advisors which are the premier researchers in both diseases. Researchers are currently conducting present and future studies in PTEN diseases. For details on the studies please read our "Special Notice" section. This group is intended to work with your doctor, not to take the place of one. Please confirm all information you hear at this site with your doctor. If you are not interested in being a member, but just need information on the syndromes please write to the webmaster at