21. CancerGene MHAM Aliases, Name, multiple hamartoma (cowden syndrome). Locus, 10q22q23. OMIM, 158350,GDB, 118839, Hanssen AM;Fryns JP cowden syndrome. J Med Genet 1995 Feb;32(2)117-9. http://caroll.vjf.cnrs.fr/cancergene/CG73.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol MHAM Aliases Name multiple hamartoma (Cowden syndrome) Locus OMIM GDB SwissProt LocusLink MHAM Class DISORDER Diseases Hamartoma Syndrome, Multiple; Neoplastic Syndromes, Hereditary Note For germline mutations in MHAM see the gene PTEN ( CG:639 Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Recent Articles : Kwon CH;Zhu X;Zhang J;Knoop LL;Tharp R;Smeyne RJ;Eberhart CG;Burger PC;Baker SJ Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. Nat Genet 2001 Dec;29(4):404-11. Backman SA;Stambolic V;Suzuki A;Haight J;Elia A;Pretorius J;Tsao MS;Shannon P;Bolon B;Ivy GO;Mak TW Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Nat Genet 2001 Dec;29(4):396-403. Fackenthal JD;Marsh DJ;Richardson AL;Cummings SA;Eng C;Robinson BG;Olopade OI Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet 2001 Mar;38(3):159-64.

22. CancerGene BZS C;Eng C;et al PTEN mutation spectrum and genotypephenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with cowden syndrome. http://caroll.vjf.cnrs.fr/cancergene/CG917.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol BZS Aliases Name Bannayan-Zonana syndrome Locus OMIM GDB SwissProt LocusLink BZS Class DISORDER Diseases Abnormalities, Multiple; Brain Neoplasms; Hamartoma Syndrome, Multiple; Hemangioma; Lipoma Note see related gene PTEN ( CG:639 Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Marsh DJ;Kum JB;Lunetta KL;Bennett MJ;Gorlin RJ;Ahmed SF;Bodurtha J;Crowe C;Curtis MA;Dasouki M;Dunn T;Feit H;Geraghty MT;Graham JM Jr;Hodgson SV;Hunter A;Korf BR;Manchester D;Miesfeldt S;Murday VA;Nathanson KL;Parisi M;Pober B;Romano C;Eng C;et al PTEN mutation spectrum and genotype-phenotype correlations in Bannayan- Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999 Aug;8(8):1461-72 Celebi JT;Tsou HC;Chen FF;Zhang H;Ping XL;Lebwohl MG;Kezis J;Peacocke M Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. J Med Genet 1999 May;36(5):360-4

23. Connexion Citations for MHAM 1, Male breast cancer in cowden syndrome patientswith germline PTEN mutations. Fackenthal JD, Marsh DJ, Richardson http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=MHAM

24. Connexion 1, Phenotypic findings of cowden syndrome and BannayanZonana syndrome in a familyassociated with a single germline mutation in PTEN. Celebi JT, et al. http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=BZS

25. Searchalot Directory For Cowden Syndrome cowden syndrome A CHORUS notecard document about this syndrome. RelatedCategories. Health Conditions and Diseases Rare Disorders. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Cowd

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Cowden Syndrome Related Web Sites Emergency Medicine - A introduction of Cowden disease followed by an in depth report, including treatment, medication and follow up. Cowdens Syndrome Support Group - Offers information and message boards for families and patients affected by the disease. Cowden Syndrome - A CHORUS notecard document about this syndrome. Related Categories Health: Conditions and Diseases: Rare Disorders All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo!

26. Sandy's Story: A Life Touched By Genetics Sandy Tolman (left) has cowden syndrome, an inherited condition that causesbenign and malignant tumors of the skin, mouth, breasts and intestines. http://www.sjsworld.org/staff/sandystory.htm

SjSWorld Sjogren's Syndrome On-Line Community Sandy's Story: A Life Touched by Genetics Genetics Quarterly, Summer 2000, Volume 1. Reprinted with permission Reprinted with permission of the author and publisher (see details below article) entire and unedited. I hadn't spoken with Dale, my genetic counselor at Southern Maine Genetics Services (SMGS) in Scarborough, in about seven years, and I suddenly had the impulse to call her. Not only did she remember me, but she also remembered "Cowden's Syndrome" (the rare genetic disease I have). I can't tell you how good that made me feel. Southern Maine Genetics Services (at the Foundation for Blood Research) had been recommended to me by my dermatologist. Sandy Tolman (left) has Cowden Syndrome, an inherited condition that causes benign and malignant tumors of the skin, mouth, breasts and intestines. I had been living with the diagnosis of "Accro-keratosis veruciformis of Hopf" for about ten years. However, when growths began to appear internally, the diagnosis was changed to Cowden's syndrome. . Cowden's syndrome was something new to me, and the only information I had about it was from an awful-looking picture in a big green book. So, when I first walked into Dale's office I was scared, confused and sure that, in time I would look like the picture in the big green book.

27. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders See also Health Conditions and Diseases Rare Disorders (128). Sitescowden syndrome A CHORUS notecard document about this syndrome. http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Top Health Conditions and Diseases Genetic Disorders : Cowden Syndrome See also: Health: Conditions and Diseases: Rare Disorders Sites: Cowden Syndrome - A CHORUS notecard document about this syndrome. Cowdens Syndrome Support Group - Offers information and message boards for families and patients affected by the disease. Emergency Medicine - A introduction of Cowden disease followed by an in depth report, including treatment, medication and follow up. Last update: 0:17 PT, Monday, June 11, 2001 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

28. Familial Cancer Database - Bugs cowden syndrome In the comments section (clinical criteria), it is correctly statedthat follicular thyroid cancer is the predominant type of thyroid cancer http://facd.uicc.org/bugs.shtml

This Site News Introduction Registration ... Links (last updated: July 6, 2001) facd@medgen.azg.nl The following list in alphabetical order contains errors detected in version 1.2. These will be corrected in the next update. Carney Triad : new McKusick no. (604287) not yet listed; the listed non-tumor features are caused by a coding error and will be deleted; parathyroid adenoma should be added to possible tumor features; percentage of unilateral multiple chondromas should read 24 instead of 39. Colorectal Adenoma Carcinoma syndrome (CRAC) : McKusick no. (604940) not yet listed. Cowden syndrome : In the comments section (clinical criteria), it is correctly stated that follicular thyroid cancer is the predominant type of thyroid cancer associated with Cowden syndrome, although the papillary type has been reported as well. However, the displayed tumor spectrum incorrectly only lists the papillary type and searching for follicular thyroid cancer will not find Cowden syndrome. Dubowitz syndrome : searching for salivary gland tumors does not (but should) find this syndrome (parotid gland cancer) Familial Adenomatous Polyposis : Some of the rare tumors listed in the comments field (e.g. pancreatic cancer) are not coded in FAP tumor spectrum, therefore searching for those tumors will not find FAP.

29. GENATLAS GENE DATABASE vascular malformations,Hashimoto thyroiditis and speckled penis,including BannayanRiley-Ruvalcabasyndrome,could be grouped with cowden syndrome for clinical http://bisance.citi2.fr/cgi-bin/mug?tex1=PTEN

30. GENATLAS CITATION DATABASE 1999, Phenotypic findings of cowden syndrome and BannayanZonana syndromein a family associated with a single germline mutation in PTEN. http://bisance.citi2.fr/cgi-bin/biblio?symb=MHAM&wher=2

31. Untitled Document Dr. Fernandez research focuses on the genetic basis of the neurologic manifestationsof a model inherited cancer syndrome, cowden syndrome. http://www.cancergenetics.med.ohio-state.edu/Fernandezpubs.html

D r. Fernandez research focuses on the genetic basis of the neurologic manifestations of a model inherited cancer syndrome, Cowden syndrome. We do know that approximately 25% of individuals with Cowden syndrome seem to have learning disabilities. In addition, approximately 70% of individuals with Bannayan-Ruvalcaba-Riley syndrome (BRRS, an allelic disorder to Cowden syndrome) have some degree of learning difficulty. In individuals who meet the diagnostic criteria for Cowden syndrome, about 70-80% have a detectable mutation in the PTEN gene; approximately 50-60% of individuals with BRRS have an identifiable PTEN mutation. PTEN encodes a dual specificity phosphatase on 10q23.3 and it is known that PTEN is highly expressed during the embryonic period in the central nervous system and the peripheral nervous system. These investigations will allow a better understanding of the relationship between the clinical manifestations and the molecular genetic diagnosis, which will translate in the future in possible interventions and therapies for these neurologic manifestation in Cowden and in other cancer syndromes. Recent efforts have focused on studying the effects of PTEN mutations at the RNA level.

32. Genetics Of The Gynecologic Cancers The two hereditary cancer syndromes known to cause endometrial cancers areHereditary Nonpolyposis Colorectal Cancer syndrome and cowden syndrome. http://www.cancergenetics.med.ohio-state.edu/ccg/gengyncancers.html

Genetics of the Gynecologic Cancers Although all cancer is genetic (caused by errors in our genes that lead to uncontrolled cell growth), very few cancers are hereditary (due to a single gene that is running in the family). It is estimated that 5-10% of all cancers are hereditary. So it is important to try to determine which cancers are more likely to be inherited. Some general characteristics of hereditary cancers are: Early age at diagnosis (The average age at diagnosis of endometrial cancer is 58 and the average age at diagnosis of ovarian cancer is 63.) Multiple cases of the same or related cancers in more than one generation of one side of the family (For example, in two major hereditary cancer syndromes we see colon and endometrial cancers in the same family and ovarian and breast cancers in the same family.) A single individual with more than one type of cancer or bilateral cancer (For example, a woman with breast and ovarian cancer or a woman with bilateral breast cancer, two different cases of breast cancer diagnosed in both breasts). For more information about specific hereditary cancer syndromes, the following list provides a brief review of the syndromes associated with each of the gynecologic cancers.

33. Genetic Studies OSU 9904. 9/10/01. Comparative GenotypePhenotype Correlations incowden syndrome CS and Bannayan-Ruvalcaba-Riley Syndrome BRR. http://www.jamesline.com/output/content/CCCsite/ccc/Protocols/gene.htm

Genetic Studies Type of Protocol IRB Consent Description Contact Name and Number CALGB 29801 Molecular and Cytogenetic Monitoring of CML Dx w/ CML registered to a CALGB tx protocol for CML. For more information, please contact The James Line at 1-800-293-5066 or email at cancerinfo@jamesline.com CALGB 9764 Genetic Changes in Diffuse Aggressive Non-Hodgkin's Lymphoma DA-NHLregistered to CALGB treatment protocol. For more information, please contact The James Line at 1-800-293-5066 or email at cancerinfo@jamesline.com OSU 0054 Individual and Age-Dependent Risk of Cancer in Cowden Syndrome (CS) and Bannayan-Ruvalcaba-Riley Syndrome Patients found to have a mutation in the PTEN gene are eligible. For more information, please contact The James Line at 1-800-293-5066 or email at cancerinfo@jamesline.com OSU 0107 Prospective Cohort Study of BRCA1 and BRCA2 Carriers Pts. Seen for cancer genetic consultation who received BRCA gene testing. For more information, please contact The James Line at 1-800-293-5066 or email at cancerinfo@jamesline.com

34. Miscellaneous Contact Name and Number. OSU 9904, 9/10/01, Comparative GenotypePhenotype Correlationsin cowden syndrome CS Bannayan-Ruvalcaba-Riley Syndrome BRR. http://www.jamesline.com/output/content/CCCsite/ccc/Protocols/misc.htm

Miscellaneous Type of Protocol IRB Consent Description Contact Name and Number CALGB 60001 Prospective Evaluation of Pharmacokinetics, Pharmacogenetics and Pharmacodynamics of CPT-11 and Aging For more information, please contact The James Line at 1-800-293-5066 or email at cancerinfo@jamesline.com CALGB 9762 Clin Pharm of Paclitaxel in Relation to Patient Age For more information, please contact The James Line at 1-800-293-5066 or email at cancerinfo@jamesline.com OSU 9904 Cowden's syndrome or Bannayan-Ruvalcaba-Riley syndrome based on International Consortium Criteria. Refer to Clinical Cancer Genetics. For more information, please contact The James Line at 1-800-293-5066 or email at cancerinfo@jamesline.com

35. Syndromes In Breast Cancer variant LiFraumeni families 54. A detailed account of p53 is discussedhere cowden syndrome It is an autosomal dominant syndrome http://www.au-kbc.org/research_areas/bio/projects/bcinfo/gen/synd.html

AU-KBC RESEARCH CENTRE Syndromes associated with breast cancer The incidence of syndrome associated with breast cancer is very low (less than 1%). The various syndromes associated with breast cancer are: Li-Fraumeni syndrome: A large number of sporadic cancers are due to mutation in p53 but when this occurs in germline cells, it results in Li-Fraumeni syndrome. It is characterized by premenopausal breast cancer in combination with childhood soft tissue tumours, brain tumors, leukemia, lymphoma, and adrenocortical carcinoma. The probability that these individuals will develop breast cancer is 60% overall. Germline mutations are mostly seen in the exon 7 of p53 gene. [OMIM] Germline mutations in another gene, hCHK2, have been implicated in the etiology of one classical and two variant Li-Fraumeni families A detailed account of p53 is discussed here Cowden syndrome: It is an autosomal dominant syndrome characterized by hamartomatous lesions in the breast, GI tract (polyps), CNS (Central Nervous System), skin and mucosa, eyes, thyroid, genitourinary tract and bones. Germline mutations in the PTEN gene is responsible for this syndrome. Diagnosis is established through identification of characteristic skin lesions (acral keratosis, facial trichilemmomas, and oral papules). It is also called as multiple hamartoma syndrome. PTEN is a tumour suppressor gene located on 10q23 chromosome. The gene product of PTEN is a phosphatase which plays an important role in regulating cell growth. Mutation in PTEN gene results in loss of protein function leading to uncontrolled cell proliferation and hamartomatous growths.

36. La Maladie De Cowden Translate this page Male breast cancer in cowden syndrome patients with germline PTEN mutations. Thecowden syndrome a clinical and genetic study in 21 patients. http://orphanet.infobiogen.fr/data/patho/FR/fr-cowden.html

Maladie de Cowden Auteur : Docteur Michel LONGY Editeur scientifique : Professeur Thierry PHILIP Nom de la maladie et de ses synonymes Maladie de Cowden, syndrome des hamartomes multiples Papillomatose orale Trichilemmomes multiples de la face Syndrome de Lhermitte-Duclos Cancer du sein Maladie fibrokystique du sein Polypes hamartomateux intestinaux Retard mental Le diagnostic de maladie de Cowden est retenu : En l'absence de tout contexte familial, devant : Dans un contexte familial de maladie de Cowden et Description clinique L' est souvent au premier plan, associant : L' L' atteinte intestinale L' atteinte mammaire Des Les L' atteinte neuro-sensorielle Mode de prise en charge PTEN PTEN PTEN 1. Bonneau D and Longy M. Mutations of the human PTEN gene. Hum Mutat 2. Bronstein MH, Wolf M, Birowski JB. Cowden's disease: a cutaneous marker of breast cancer. Cancer 3. Erbe KW and Compton CC. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 24-1987. A 56-year-old man with a substernal goiter, multiple cutaneous and mucosal lesions, and a positive stool test for occult blood. N Eng J Med 4. Fackenthal JD, Marsh DJ

37. Dr Fackenthal JD, Marsh DJ, et al. (2001) Male breast cancer in cowden syndromepatients with germline PTEN mutations. J Med Genet 38 159164. http://www.kolling.usyd.edu.au/Marsh.htm

Dr. Deborah J. Marsh Position: Senior Research Fellow, University of Sydney Cancer Genetics Laboratory Education: 1989, BScAgr(Hons) University of Sydney 1996, PhD University of Sydney Research Interests: The molecular genetics of hereditary cancer syndromes and their sporadic counterpart tumours; genome scanning methodologies for gene identification; development of improved mutation scanning methods. Representative Publications: Marsh DJ, Theodosopoulos G, et al . (2001) Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing HPLC. Neoplasia Fackenthal JD, Marsh DJ, et al. (2001) Male breast cancer in Cowden Syndrome patients with germline PTEN mutations. J Med Genet Gimm O, Perren A, Weng L-P, Marsh DJ, et al . (2000) Differential nuclear and cytoplasmic expression of PTEN in normal thyroid tissue, and benign and malignant epithelial thyroid tumors Am J Pathol Yeh JJ, Marsh DJ, et al . (1999) Fine structure deletion mapping of 10q22-24 identifies regions of loss of heterozygosity and suggests that sporadic follicular thyroid adenomas and follicular thyroid carcinomas develop along distinct neoplastic pathways Gene Chromosom Cancer Marsh DJ, Kum JB

38. Colorectal Cancer_The Genetics Of Colon Cancer PeutzJeghers syndrome. Juvenile polyposis syndromes. cowden syndrome. Syndromeswith Adenomatous Polyps. Familial adenomatous polyposis (FAP). cowden syndrome. http://www.arcmesa.com/pdf/colorec_cancer/genetics.html

The Genetics of Colon Cancer Knowledge of the genetics of colorectal cancer has accumulated rapidly during the last decade. The genes responsible for the inherited syndromes of familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) have been identified and genetic testing is commercially available. The genes involved in the pathogenesis of the rare hamartomatous polyposis syndromes have also been identified. The inherited syndromes of colon cancer and colonic polyposis are listed in Table 2. Table 2: Inherited Syndromes of Colon Cancer and Colonic Polyps Syndromes with adenomatous polyps Familial adenomatous polyposis (FAP) Gardener syndrome Turcot syndrome Attenuated adenomatous polyposis coli Hereditary nonpolyposis colorectal cancer; Lynch syndromes I and II (HNPCC) Syndromes with hamartomatous polyps Peutz-Jeghers syndrome Juvenile polyposis syndromes Cowden syndrome Syndromes with Adenomatous Polyps Familial adenomatous polyposis (FAP) FAP is an autosomal dominantly inherited condition characterized by the development of hundreds to thousands of colonic adenomatous polyps and a near 100% risk for cancer of the colon if the colon is not removed. Polyps begin to emerge at an average age of 16 years and, if left untreated, one or more of the polyps will progress to cancer by the average age of 44 years. Several variants of FAP include the Gardner syndrome, which is characterized by extracolonic manifestations of osteomas, skin fibromas and epidermoid cysts. In the Turcot syndrome there are accompanying CNS malignancies, notably medulloblastoma. A recently described variant of FAP is attenuated adenomatous polyposis coli in which affected persons exhibit about 30 colonic adenomas and have an approximately 10-year delay in cancer occurrence.

39. PTEN Intro High incidence of breast and endometrial neoplasia resembling humancowden syndrome in pten+/ mice. (7) Eng C. cowden syndrome. http://www.endometrium.org/PTEN Central/Docs/pten_intro.htm

PTEN: An Introduction PTEN is a tumor suppressor The PTEN tumor suppressor gene is a dual specificity phosphatase located on chromosome 10 (10q23) that acts through an Akt-dependent pathway to suppress cell division ands enable apoptosis Its role in tumor suppression is confirmed by frequent endometrial abnormalities which develop in PTEN-deficient mice and high incidence of breast, thyroid, and endometrial cancers in humans with constitutive mutation of one PTEN allele, Cowden’s syndrome Nomal Endometrial Expression (above figs.) is hormone dependent : Endometrial gland PTEN expression changes with the hormonal environment during the normal menstrual cycle . Estrogenic conditions (proliferative) produce very high epithelial expression (left panel above). Progesterone exposure during the secretory phase initially creates PTEN-free secretory vacuoles, then progressive depletion of PTEN protein (middle 2 panels, above). PTEN protein eventually disappears from glands, and remains so during menses (right, above). Stromal expression remains high throughout the cycle, but with variation in relative intensity between nuclear and cytoplasmic compartments. If presence of a gene product corresponds to a functional requirement, it might be inferred that under progestin rich conditions of secretory endometrium the tumor suppressive activities of the PTEN protein are unnecessary.

40. Medichecks . Com - Show Test/Profile Contents cowden syndrome. cowden syndrome. £1,245.00.......cowden syndrome. £1,245.00. Test Type Genetic. Test Code GENE23. Special Instructions http://www.medichecks.com/test.cfm?test=GENE23

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