Extractions: Biomedical Frontiers: Fall 1996, Vol.4, No.1 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 a dermatological disorderis an under-recognized cause of breast cancer. 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.
Extractions: Listing of CPMCnet Breast Cancer Related Articles Biomedical Frontiers Clinical Preventive Services Press Releases Reporter ARTICLES Hormone Replacement Therapy and Risk of Breast Cancer Tamoxifen Surgical Management of Breast Cancer Oral Contraceptives and Risk of Breast Cancer ... Hereditary Breast Cancer
Why Did I Get Thyroid Cancer? Patients with cowden's syndrome have an increased risk of several malignancies,and exhibit an increased risk of benign and malignant thyroid disease. http://www.mythyroid.com/why_did_i_get_thyroid_cancer.htm
Extractions: Thyroid nodules Hyperthyroidism Thyroid cancer Hypothyroidism Graves' Disease Thyroiditis Radioactive iodine Myxedema Multinodular goiter Hot nodule Thyroglossal duct cyst Cold nodule Thyroglobulin Why did I get thyroid cancer? MyThyroid.com Home Disease Associations Dr. Drucker Drugs and Vitamins Eye Disease Heart Disease Hot off the press ... Thyroid surgery Many patients naturally want to know " Why did I get thyroid cancer? ". Most patients have no known risk factors or family history and were often previously in good health. Scientists and physicians do not have good answers to this question yet, but many research programs are looking into this issue. A substantial number of thyroid cancers appear to exhibit genetic abnormalities in one or more chromosomes, but the reason for these types of chromosomal abnormalities Allelotyping of follicular thyroid carcinoma: frequent allelic losses in chromosome arms 7q, 11p, and 22q. J Clin Endocrinol Metab. 2001 Sep;86(9):4268-72 remains obscure. Molecular genetic studies suggest that exposure to ionizing radiation is associated with specific genetic changes that activate oncogenes, or cancer-causing genes, in thyroid tissue. For example, see
NYU SoM - Dept. Of Dermatology Diagnosis Multiple hamartoma syndrome (cowden's disease). Diagnosis of cowden'ssyndrome can be confirmed by combining various criteria as delineated above. http://www.med.nyu.edu/Derm/conf/022001-3.html
Syndromes Avec Hamartomes Et Polypose: Translate this page Tableau 1 Prédisposition aux syndromes avec hamartomes et polyposes. Symptômes.Caractéristiques cliniques. Gène. Locus. cowden-syndrome. (CS). http://www.hospvd.ch/public/chuv/genmol/ssgm/bul/article/ssgm41f-3.htm
Extractions: Locus Cowden-Syndrome (CS) PTEN/MMAC1/ Bannayan-Ruvalcaba-Riley -Syndrome (BRRS) PTEN autres ? Polypose juvenile familliale PTEN? autres ? Peutz-Jeghers-Syndrome (PJS) Eng C, Ji HL: Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters. Am J Hum Genet (1998) 62: 1020 - 1022 Eng C, Peacocke M: PTEN and inherited hamartoma-cancer syndromes. Nat Genet (1998) 19: 223 Hemminiki A et al.: A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 391: 184 - 187 Howe JR et al.: Mutations in the SMADA/DPC4 gene in juvenile polyposis. Science (1998) 280: 1086 - 1088 Jeghers H, McKusick VA, Katz KH: Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. A syndrome of diagnostic significance. N Engl J Med (1949) 241, 993 - 1005; 1031 -1036 Jenne DE et al,: Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet (1998) 18: 38 - 43 Lloyd II KM, Dennis M: Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med (1963) 58: 136 - 142 Marsh DJ et al.: Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, 2 hamartoma syndromes with germline PTEN mutations. Hum Mol Genet (1998) 7: 507 - 515
Department Of Medical Biophysics - Faculty - Dr. Vuk Stambolic Besides frequent mutations in sporadic tumors, germline mutations of PTEN cause Cowdensyndrome, an autosomaldominant hamartoma syndrome characterized by high http://medbio.utoronto.ca/faculty/stambolic.html
Extractions: Our previous work demonstrated a role for PTEN in regulation of cellular proliferation, survival and apoptosis. Analysis of cells mutant for PTEN provided a mechanistic insight into the direct role for PTEN in dephosphorylation and negative regulation of intracellular levels of PI(3,4,5)P , a lipid second messenger and a crucial mediator of PI3'K cellular survival signaling. PTEN achieves its function by modulating the activity of PKB/Akt, an anti-apoptotic kinase and a cellular oncogene. Mice carrying PTEN mutations are highly susceptible to tumor formation, and represent a valuable tool for investigation of PTEN-regulated signaling pathways in vivo. Illustrating the complexity of cellular signaling networks in tumorigenesis, we have recently shown that p53, another frequently mutated tumor suppressor, directly regulates PTEN expression and demonstrated PTEN requirement for p53-induced apoptosis in mammalian cells. Current research in our laboratory is aimed at studying molecules that affect PTEN function and their involvement in tumorigenesis. Using proteomic and genomic approaches, as well as other modern molecular biology techniques, functional screens are being conducted in hope of identifying novel molecules that regulate cellular phosphatidylinositol signalling. Such molecules could represent future therapeutic targets underlying deregulated growth during tumor development and progression in the absence of PTEN.
Katalog - Wirtualna Polska Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Genetic_Disorders/Cowde