41. Nature Publishing Group cowden syndrome 6 is an autosomal dominant disorder characterized by multiple hamartomasoccurring in organs derived from all three germ cell layers and a high http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v28/n2/full/ng0601_1

42. Nature Publishing Group Abstract. Heterozygous germline mutations in PTEN are responsible for most casesof cowden syndrome, a rare familial trait characterized by hamartomas and by http://www.nature.com/cgi-taf/DynaPage.taf?file=/onc/journal/v17/n6/abs/1201984a

43. Directory :: Look.com cowden syndrome (3) See Also. Health/Conditions and Diseases/Rare Disorders. Sites.cowden syndrome A CHORUS notecard document about this syndrome. http://www.look.com/searchroute/directorysearch.asp?p=560734

44. Abstract © SpringerVerlag 2000. Original investigation. Association of splicing defectsin PTEN leading to exon skipping or partial intron retention in cowden syndrome. http://link.springer.de/link/service/journals/00439/contents/00/00362/s004390000

Original investigation Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome , Molly Wanner , Xiao Li Ping , Hong Zhang and Monica Peacocke Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, VC-1526 New York, NY 10032, USA Abstract. Cowden syndrome (CS) and Bannayan Zonana syndrome (BZS) are two autosomal dominantly inherited conditions characterized by hamartomas. Mutations in PTEN , a tumor suppressor gene located on chromosome 10q23, have been identified in patients with phenotypic findings of both CS and BZS. These mutations are found throughout the entire gene, with exon 5 being the most common site, and include point mutations, insertions and deletions. To date, 11 point mutations at the splice junctions of the PTEN gene have been reported, however, data on the alterations in the transcripts have been lacking. In this study, we have identified three novel splice site mutations in PTEN

45. Clinical Study: 02-C-0212, Clinical, Genetic, Behavioral, Laboratory And Epidemi with a history of cancer consistent with any of the known syndromes the familialbreast/ovarian syndrome, LiFraumeni syndrome, Peutz-Jegher, cowden syndrome. http://clinicalstudies.info.nih.gov/detail/A_2002-C-0212.html

Protocol Number: 02-C-0212 Title: Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Number: 02-C-0212 Summary: This study is a syndrome-specific subset of a long-standing Genetic Epidemiology Branch, Human Genetics Program, Division of Cancer Epidemiology and Genetics 'umbrella' family studies protocol. Certain individuals and their relatives are asked to complete questionnaires and to undergo clinical evaluations related to the syndrome under study. They are monitored by periodic mail or telephone contact. Some return to the NIH Clinical Center for periodic follow-up examinations. They donate blood and tissue specimens for testing. The Hereditary Breast/Ovarian Cancer Family Studies Registry contains more than 3,000 individuals from 68 different families. They are candidates for various proposed National Cancer Institute (NCI) studies. This study may add individuals and families to that registry. This study will follow individuals and families at high risk of breast, ovarian, and other related cancers due to known or suspected genetic factors. Its primary goals include the following:

46. Diagnosis - Hypertrichosis Table cowden syndrome, Multiple hamartoma syndrome, 158350. Denervation, (Various),List. Multiple hamartoma syndrome, cowden syndrome, 158350. Neoplasm, (Various),List. http://www.keratin.com/ab/ab007.shtml

hypertrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving excess hair growth (hypertrichosis) as a secondary symptom List of disorders involving excess hair growth (hypertrichosis) as a primary symptom Introduction The tables below records disorders known to involve hypertrichosis. The first table lists disorders where hypertrichosis is a primary symptom. The second table lists disorders where hypertrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health/life threatening. The clinical distinction between hypertrichosis and hirsutism is that hypertrichosis involves hair growth on any hair bearing area of skin. The excess hair growth may induced by a wide variety of environmental or genetic factors. Hirsutism is the growth of hair in a secondary sexual characteristic pattern. In women hirsutism involves unwanted excess hair limited to regions including the mustache, beard, chest and/or escutcheon areas. Hirsutism is typically induced by hormonal imbalance, especially androgen excess. This is not necessarily a complete list of disorders involving hypertrichosis. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible.

47. Bannayan-zonana1999.html TITLE Phenotypic findings of cowden syndrome and BannayanZonana syndromein a family associated with a single germline mutation in PTEN. http://www.indiana.edu/~pietsch/bannayan-zonana1999.html

web contact: pietsch@indiana.edu Bannayan-Zonana Syndrome An update of the literature (1999) For a non-technical description of B-Z syndrome see NORD. conducted at Indiana University , Bloomington, Indiana and presented with the generous co-operation and kind permission of SilverPlatter familial macrocephaly; autosomal dominant macrocephaly; also called Bannayan-Riley-Ruvalcaba syndrome Record 1 of 6 in MEDLINE EXPRESS (R) 1999/11-1999/12 TITLE: Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome. AUTHOR(S): Bevan-S; Woodford-Richens-K; Rozen-P; Eng-C; Young-J; Dunlop-M; Neale-K; Phillips-R; Markie-D; Rodriguez-Bigas-M; Leggett-B; Sheridan-E; Hodgson-S; Iwama-T; Eccles-D; Bodmer-W; Houlston-R; Tomlinson-I ADDRESS OF AUTHOR: Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research, Sutton, UK. SOURCE (BIBLIOGRAPHIC CITATION): Gut. 1999 Sep; 45(3): 406-8 INTERNATIONAL STANDARD SERIAL NUMBER: 0017-5749 PUBLICATION YEAR: 1999 LANGUAGE OF ARTICLE: ENGLISH COUNTRY OF PUBLICATION: ENGLAND MINOR MESH HEADINGS: Adolescence-; Genetic-Markers; Phosphoproteins-genetics; Polymorphism-Genetics; Trans-Activators-genetics

48. Cowdenin Syndrooma JV Bagan, M. Peñarrocha, F. VeraSempere cowden syndrome clinical and pathologicalconsiderations in two new cases. AMN Hanssen, JP Fryns cowden syndrome. http://www.helsinki.fi/~usinisal/Cowden.html

Cowdenin syndrooma : hamartomatous syndrome, multiple hamartoma syndrome, multiple hamartoma and neoplasia syndrome (Devlin ym., 1992; Hanssen ym., 1995). Taudille ovat ominaisia ihon, limakalvojen, rintojen ja kilpirauhasen ekto-, meso- ja endodermaaliset hamartomatoottiset leesiot. Taudin kliininen merkitys on sen yhteys erityisesti rinnoissa ja kilpirauhasessa oleviin maligneihin tuumoreihin. (Lloyd ym., 1963; Haibach ym., 1992) (Lloyd ym., 1963). (Bagan ym., 1989; Harned ym., 1995) (Bardenstein ym., 1988; Bagan ym., 1989) (Williard ym., 1992) Kliininen kuva Iholeesiot (Bagan ym., 1989) (Steffen ym., 1993) (Fielding, 1993) (Saccardi ym., 1994) (Bagan ym., 1989; Bardenstein ym., 1988; Fielding, 1993) (Saccardi ym., 1994) (Bardenstein ym., 1988; Sabin ym., 1988; Fielding, 1993) (Sabin ym., 1988) (Sabin ym., 1988) (Fielding, 1993) Histologia (Bardenstein ym., 1988; Saccardi ym., 1994) (Bardenstein ym., 1988) (Bardenstein ym., 1988) Limakalvoleesiot Suun limakalvon leesiot ovat luultavasti tunnusomaisempia kuin iholeesiot - niitä on noin 86%:lla potilaista. Leesiot käsittävät papuloita, jotka voivat olle pieniä ja lukuisia tai papillomatoottisia ja syylämäisiä muodostelmia, jotka usein yhdistyvät ja peittävät laajoja alueita suun limakalvoa ja saavat limakalvon näyttämään "mukulakivimäiseltä". Suun limakalvon papillomatoosi käsittää pääasiassa sileäpintasia papuloita, jotka ovat ikenissä, kielessä, huulessa, uvulassa ja suulaessa.

49. CSHL - Harbor Transcript Fall/Winter 1998 In addition, mutations in PTEN are found in several cancer predisposition disorders,including cowden syndrome, Lhermitte-Duclos disease, and Bannayan-Zonana http://www.cshl.org/public/HT/fw98-rn.html

Search Newsletter Index Transcript Archives Subscribe Research Notes: First the Gene, Now Its Function ick Tonks and Mike Myers, in collaboration with Michael Wigler and Javor Stolarov, all of Cold Spring Harbor Laboratory, and Peter Downes of the University of Dundee, have recently identified the function of a novel tumor- suppressor gene known as P-TEN . The P-TEN enzyme is involved in phosphorylation and dephosphorylation-the process whereby phosphate groups are attached to and removed from proteins or other molecules. Nick and Mike discovered that the P-TEN enzyme dephosphorylates a complex lipid called phosphatidylinositol trisphosphate, or PIP3. This, in turn, triggers processes that allow a cell with damaged DNA to destroy itself. The series of events kills the individual cell but helps to protect the organism from developing cancer. The finding was unexpected because most enzymes that resemble P-TEN remove phosphate groups from proteins rather than lipids. Phosphorylation can alter the shape and other properties of a protein, including to what substrates it can bind. These factors are critical for intracellular signaling, because in order for a signal to move through a cell, each molecule in the signaling pathway must interact closely with the next. The different components of the pathway fit together like a puzzle, and only when the protein has the phosphorylated shape and properties can it fit into its place in the puzzle. A protein's condition-phosphorylated or dephosphorylated-helps to determine whether the protein is active or inactive.

50. GeneDx: DNA Diagnostic Tests ichthyosiform erythroderma; cowden syndrome D -; Dent disease;Dopa-responsive Dystonia - E -; Ectrodactyly - Ectodermal http://www.genedx.com/index.php?area=services

51. NCBI Sequence Viewer TITLE The role of MMAC1 mutations in earlyonset breast cancer causative in associationwith cowden syndrome and excluded in BRCA1-negative cases JOURNAL Am. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=Protein&list_uids=

52. GeneCard For PTEN complete cds; multiple hamartoma (cowden syndrome); phosphatase andtensin homolog (mutated in multiple advanced cancers 1); Protein http://www.rzpd.de/cgi-bin/cards/carddisp?PTEN

53. La Maladie De Cowden Et Le Gène PTEN : Un Exemple D'intégration Réussie Entre Translate this page ARTICLE, Haut de page. La maladie de Cowden ou syndrome des hamartomes multiples. Thecowden syndrome a clinical and genetic study in 21 patients. http://www.john-libbey-eurotext.fr/articles/bdc/88/12/1153-8/

Bulletin du Cancer Michel Longy E-mail : longy@bergonie.org Reprints M. Longy. RESUME SUMMARY ARTICLE, Part. 1 ... FIGURES RESUME / SUMMARY Haut de page Cowden disease and the PTEN gene: a successfully clinical and biological combined approach Cowden disease is an autosomal dominant inherited cancer syndrome characterized by the occurrence of multiple hamartomas, tumors or hyperplastic lesions that may develop in any organ. The disease is related to germline mutation of the PTEN gene, a recently cloned tumor suppressor gene involved in the pathogenesis of sporadic glioblastoma and endometrial carcinoma. It has been shown that the PTEN gene product was a phosphatase able for dephosphorylating a lipid substrate: the phosphatidylinositol (3,4,5)-triphosphate (PIP3). So PTEN appears to negatively control the PI3K-AKT signaling pathway implicated in regulation of cell growth and survival. Key-words Cowden, hamartoma, PTEN, tumor suppressor gene, phosphatase. ARTICLE Haut de page La maladie de Cowden ou syndrome des hamartomes mult iples et al.

54. CancerQ.com Inheritance is autosomal dominant c. cowden syndrome 1. Associated with Annualmammography starting at age 2025 (30 years in patients with cowden syndrome); http://www.cancerq.com/other/breast_cancer.htm

Search BREAST CANCER The most prevalent type of cancer in females but it is the second leading cause of death. Risk Factors Family history - two to four fold increase in risk for breast cancer among women with one or more first-degree relatives with the disease. First degree families could be paternal or maternal 1. Hereditary Breast/Ovarian Cancer Syndrome (BRCA1) gene: found on the longer arm of chromosome 17 a. BRCA2 Gene: - localized to the long arm of Chromosome 13 - Also associated with male breast cancer - prostate and pancreatic cancers b. Li-Fraumeni Syndrome: - associated with breast cancer (1%) - childhood sarcomas - brain tumors - leukemias - adrenocortical carcinomas.

55. Stina Roth: Molecular Genetic Background Of Juvenile Polyposis polyposes 1.2.1 PeutzJeghers syndrome 1.2.2 cowden syndrome 1.2.3Bannayan-Riley-Ruvalcaba syndrome 1.2.4 Juvenile polyposis 1.3 http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/roth/contents.html

Back to the title page E-thesis main page TABLE OF CONTENTS LIST OF ORIGINAL PUBLICATIONS ABBREVIATIONS INTRODUCTION REVIEW OF THE LITERATURE ... E-thesis main page

56. Storming Media Biological Sciences Genetic Engineering and Molecular Biology Genetics ofPTEN in cowden syndrome and Sporadic Breast Cancer Order this Report. http://www.stormingmedia.us/cgi-bin/30/3038/A303893-97-6t.php

Search Storming Media Titles Biological Sciences Genetic Engineering and Molecular Biology Genetics of PTEN in Cowden Syndrome and Sporadic Breast Cancer - Order this Report Authors: Eng, Charis; OHIO STATE UNIV RESEARCH FOUNDATION COLUMBUS Abstract: Pages: Report Date: OCT 2001 Order number: Price: Shipping terms Order this Report Home About Us ... Contact Us

57. Neoplastic Syndromes, Hereditary Coll. of Wisconsin. Hamartoma Syndrome, Multiple Search PUBMED for HamartomaSyndrome, Multiple All Review Therapy Diagnosis; cowden syndrome Med. Coll. http://www.ohsu.edu/cliniweb/C16/C16.466.700.html

Neoplastic Syndromes, Hereditary Back to previous level Adenomatous Polyposis Coli Search PUBMED for Adenomatous Polyposis Coli: All Review Therapy Diagnosis ... Juvenile Polyposis Coli: Med. Coll. of Wisconsin Colorectal Neoplasms, Hereditary Nonpolyposis Search PUBMED for Colorectal Neoplasms, Hereditary Nonpolyposis: All Review Therapy Diagnosis ... Molecular Mechanisms Underlying Hereditary Nonpolyposis Colorectal Carcinoma: NCI Dysplastic Nevus Syndrome Search PUBMED for Dysplastic Nevus Syndrome: All Review Therapy Diagnosis Gardner Syndrome Search PUBMED for Gardner Syndrome: All Review Therapy Diagnosis ... Turcot syndrome: Med. Coll. of Wisconsin Hamartoma Syndrome, Multiple Search PUBMED for Hamartoma Syndrome, Multiple: All Review Therapy Diagnosis ... Cowden syndrome: Med. Coll. of Wisconsin Li-Fraumeni Syndrome Search PUBMED for Li-Fraumeni Syndrome: All Review Therapy Diagnosis ... Multiple Endocrine Neoplasia [3 more specific term/s, 7 more link/s] Search PUBMED for Multiple Endocrine Neoplasia: All Review Therapy Diagnosis ... Neurofibromatosis [2 more specific term/s, 1 more link/s] Search PUBMED for Neurofibromatosis: All Review Therapy Diagnosis ... J-Shaped Sella: Med. Coll. of Wisconsin

58. Neoplasms, Multiple Primary Back to previous level Hamartoma Syndrome, Multiple Search PUBMED for HamartomaSyndrome, Multiple All Review Therapy Diagnosis; cowden syndrome Med. Coll. http://www.ohsu.edu/cliniweb/C4/C4.651.html

Neoplasms, Multiple Primary Back to previous level Hamartoma Syndrome, Multiple Search PUBMED for Hamartoma Syndrome, Multiple: All Review Therapy Diagnosis ... Cowden syndrome: Med. Coll. of Wisconsin Lipomatosis, Multiple Symmetrical Search PUBMED for Lipomatosis, Multiple Symmetrical: All Review Therapy Diagnosis ... Multiple Endocrine Neoplasia [3 more specific term/s, 7 more link/s] Search PUBMED for Multiple Endocrine Neoplasia: All Review Therapy Diagnosis ... Multiple endocrine neoplasia (MEN): Med. Coll. of Wisconsin Proteus Syndrome Search PUBMED for Proteus Syndrome: All Review Therapy Diagnosis

59. Springer LINK Der Hautarzt - Abstract Volume 53 Issue 1 (2002) Translate this page Evidenz für Verlust der Heterozygotie Radiation-induced cutaneous hamartomas ina patient with cowden syndrome clinical evidence of loss of heterozygosity. http://link.springer-ny.com/link/service/journals/00105/bibs/2053001/20530047.ht

60. Cowden Syndrome Website Results :: Linkspider UK cowden syndrome Websites from the Linkspider UK. cowden syndrome Directory.Complete Results for cowden syndrome Related Topics. http://www.linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Cowden

Cowden Syndrome Websites from Linkspider UK Keyword: Cowden Syndrome Linkspider UK Directory Cowden Syndrome Search for Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Cowden Syndrome (3) Add URL Advertise Here! Personalize Amazon ... Weather See Also: Health: Conditions and Diseases: Rare Disorders 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.

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