61. Hereditary Diseases And Cancer: Cancer Prevention: Patient Education Materials: cowden syndrome LiFraumeni Syndrome Peutz-Jeghers Syndrome Werner Syndrome Kidney Cancer, cowden syndrome Neurofibromatosis Tuberous Sclerosis http://www.uihealthcare.com/depts/cancercenter/patients/patientresources/prevent

Cancer Center Home Appointments and Referrals Cancer Information Service Clinics and Services ... Department of Radiation Oncology Send comments and questions to staff@uihealthcare.com University of Iowa, Iowa City, Iowa Cancer Prevention: What You Need To Know Hereditary Diseases and Cancer Peer Review Status: Internally Reviewed by Cancer Center Staff Creation Date: 1996 Last Revision Date: April 2001 3rd edition Definition of Terms Cancer Site Hereditary Risk Factors Adrenal Gland Cancer Familial Adenomatous Polyposis (FAP) Li-Fraumeni Syndrome Multiple Endocrine Neoplasia I and II Neurofibromatosis von Hippel-Lindau Syndrome Anal Cancer Fanconi Anemia Bile Duct Cancer Familial Adenomatous Polyposis (FAP) Lynch II Syndrome Werner Syndrome Bladder Cancer Lynch II Syndrome Bone Cancer Familial Adenomatous Polyposis (FAP) Li-Fraumeni Syndrome Retinoblastoma Gene Werner Syndrome Brain Cancer Ataxia Telangiectasia Basal Cell Nevus Syndrome (Childhood Medulloblastoma) BRCA 1 possibly Fanconi Anemia Li-Fraumeni Syndrome Lynch II Syndrome Neurofibromatosis Retinoblastoma Gene Tuberous Sclerosis (Childhood Brain Tumor) Turcot Syndrome von Hippel-Lindau Syndrome Xeroderma Pigmentosum Breast Cancer Ataxia Telangiectasia Bloom Syndrome BRCA1 Gene Mutations BRCA2 Gene Mutations (Females and Males) Cowden Syndrome Li-Fraumeni Syndrome Peutz-Jeghers Syndrome Werner Syndrome Central Nervous System Familial Adenomatous Polyposis (FAP) Neurofibromatosis Cervical Cancer Bloom Syndrome Fanconi Anemia Peutz-Jeghers Syndrome

62. Cancer Nursing - UserLogin Hereditary Breast Cancer Considering cowden syndrome A Case Study The differential diagnosis included cowden syndrome and BRCA1 or BRCA2 mutation. http://www.cancernursingonline.com/pt/re/nca/fulltext.00002820-200310000-00005.h

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63. Conditions And Diseases/Genetic Disorders/Cowden Syndrome Conditions and Diseases/Genetic Disorders/cowden syndrome healthboard. http://www.healthboard.com/websites/Conditions_and_Diseases/Genetic_Disorders/Co

Health Board Conditions and Diseases/Genetic Disorders/Cowden Syndrome Search Health Board Directories the entire directory only this category More search options Home Conditions and Diseases Genetic Disorders : Cowden Syndrome LINKS: Cowden Syndrome A CHORUS notecard document about this syndrome. http://chorus.rad.mcw.edu/doc/00100.html Cowdens Syndrome Support Group Offers information and message boards for families and patients affected by the disease. http://communities.msn.com/cowdenssyndrome Emergency Medicine A introduction of Cowden disease followed by an in depth report, including treatment, medication and follow up. http://emedicine.com/DERM/topic86.htm HOME NEW LINKS COOL LINKS NEWSLETTER ... HealthBoard.com

64. Bannayan-zonana1999.html TITLE Phenotypic findings of cowden syndrome and BannayanZonana syndrome in ABSTRACT cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two 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

65. GENETICS OF POLYPOSIS SYNDROMES Cowden s syndrome is rare autosomal dominant disorder with almost complete Phenotypic findings of cowden syndrome and Bannayan syndrome in a family http://www.medfak.ni.ac.yu/Acta facultatis/2003/Broj-3-2003/2-rad-en.htm

ACTA FAC. MED. NAISS. 2003; 20 (3): 157-161 Review article GENETICS OF POLYPOSIS SYNDROMES INTRODUCTION Colorectal carcinoma (CRC) is one of the most common malignancies found in Western countries. In 2003 in the United States 150 000 new cases of CRC, were estimated but 50 to 60 thousands people died from CRC (1). Sporadic CRC account for approximately 80-85% of all new diagnoses (2). Familial colorectal cancer (the hereditary nonpolyposis colorectal cancer-HNPCC and inherited polyposis syndromes) account for 10-15% of new cases (3-5). The inherited gastrointestinal polyposis syndromes account for approximately 1% of all CRC cases (6). They can be divided into adenomatous and hamartomatous syndromes. Adenomatous polyposis syndrome is familial adenomatous polyposis (FAP) with three phenotypic variant of FAP: Gardner's syndrome, Turcot's syndrome and attenuated FAP. Hamartomatous polyposis syndromes are Peutz-Jeghers syndrome, Juvenile polyposis, Cowden's syndrome and Bannayan-Riley-Ruvalacaba syndrome. FAP accounts for about 1% of cases, and the inherited hamartomatous polyposis syndromes account for fewer than 0.1% of cases (3-5). Cronkhite-Canada syndrome is noninherited gastrointestinal hamartomatous polyposis syndrome with a significant risk of malignancy (7).

66. *601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A Because in rare cases of CD, or a Cowdenlike syndrome (601299.0005), One proband with cowden syndrome or Cowden-like syndrome (see 158350) had a http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:601299] -e

67. 153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA cowden syndrome (158350) and BannayanRiley-Ruvalcaba syndrome share clinical Neither parent had any features of either Cowden disease or BRR syndrome. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:153480] -e

68. UniProtKB Entry - UniProt [the Universal Protein Resource] The genetic basis of Cowden s syndrome three novel mutations in PTEN/MMAC1/TEP1.1998, Hum. Germline PTEN mutations in cowden syndromelike families. http://www.pir.uniprot.org/cgi-bin/upEntry?id=PTEN_HUMAN

69. Charis Eng - Human Cancer Genetics the genetics of two inherited cancer syndromes, cowden syndrome, the PTENgene in Cowden disease, an inherited breast and thyroid cancer syndrome. http://www.cancergenetics.med.ohio-state.edu/2733.cfm

Home Faculty Administration Faculty ... For Faculty and Staff Charis Eng Charis Eng, MD, PhD, FACP Dorothy E. Klotz Chair of Cancer Research Professor and Director, Division of Human Genetics, Department of Internal Medicine Director, Clinical Cancer Genetics Program 2050 Kenny Rd 8th Floor Tower Columbus Ohio Phone: (614) 293-6694 Fax: (614) 239-2314 eng-1@medctr.osu.edu Dr. Eng joined the Clinical Cancer Genetics Program as director in 1999 and was named director of the Division of Human Genetics in 2002. Special Interests Dr. Eng's interests are clinical cancer genetics and human cancer genetics. Her recent efforts in the laboratory have focused on the role of somatic genetic alterations in tumor stroma in sporadic breast carcinomas and head and neck cancers. This work may have broad implications not only for examining the pathogenesis of common cancers but may reveal novel targets and novel compartments germane for diagnosis, prognosis, therapy and prevention. This fundamental research is aimed at not only mechanism resolution but also hopes to identify novel targets for therapeutic and preventative drug development. The genetics of the RET proto-oncogene are pursued for clinical translational purposes for MEN 2, sporadic neuroendocrine tumors, and Hirschsprung disease. Towards those ends, genotype-phenotype analyses and genotype-prognosis analyses are being performed. Examination of common low penetrance variants in sporadic medullary thyroid carcinoma, pheochromocytoma and Hirschsprung disease is also being pursued in the hope of identifying common alleles for predisposition.

70. Exploring Autism PTEN mutation in a family with cowden syndrome and Autism. (2001) American Journalof Medical Genetics.105 521524. Resources for Families http://www.exploringautism.org/news/pten.htm

In the News Genetic Changes in PTEN Gene in 3 Children With an Autism Spectrum Disorder (ASD) and Extreme Macrocephaly A recent report from a collaborative group of researchers suggests that a subset of individuals with an autism spectrum disorder (ASD) may have a genetic change (mutation) in a gene called PTEN. PTEN (pronounced “P-10”) is an abbreviation for a phosphatase gene. It is a tumor suppressor gene, meaning the gene is involved with controlling when cells divide. For this study, researchers selected 18 patients (13 males and 5 females) who had a diagnosis of an autism spectrum disorder and a head size above the average 90th percentile of what is expected for their age (macrocephaly). They then tested the 18 individuals to see if any had a change in the PTEN gene. Three of the 18 patients were found to have a mutation in the PTEN gene. In all three patients, the genetic changes were seen in the child, but not in the parents. This suggests that the changes are likely “new mutations”, changes that occurred as random events at a very early stage of fetal development, but not inherited from either parent. The researchers of this study suggest that genetic testing of the PTEN gene changes (mutations) be considered for patients with “autistic behavior and extreme macrocephaly [large head size].” However, more research is needed to determine what percentage of individuals with an autism spectrum disorder has changes in the PTEN gene. Furthermore, these particular mutations have never been seen in any other individuals, so it is hard to say exactly what the findings mean. Non-autistic individuals may also have similar changes in the PTEN gene, but simply have not yet been tested for it.

71. Entrez PubMed cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndromewith involvement of various organ systems. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7

72. Entrez PubMed cowden syndrome is an autosomal dominant condition of multiple hamartomas. We describe a three generation family with cowden syndrome and http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

73. World J Gastroenterol 14 Eng C. Will the real cowden syndrome please stand up revised diagnostic criteria . 16 Starink TM, van der Veen JP, Arwert F. The cowden syndrome A http://www.wjgnet.com/1007-9327/11/1567.asp

74. Will The Real Cowden Syndrome Please Stand Up (again)? Expanding Mutational And Keywords BannayanRiley-Ruvalcaba syndrome; cowden syndrome; Since consensusoperational diagnostic criteria for cowden syndrome (MIM 158350) were http://www.jmedgenet.com/cgi/content/full/41/5/323

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Pilarski, R Articles by Eng, C Related Collections Genetics Journal of Medical Genetics BMJ Publishing Group Ltd COMMENTARY PTEN hamartoma tumour syndrome Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome R Pilarski and C Eng Clinical Cancer Genetics Program, Comprehensive Cancer Center, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA Clinical Cancer Genetics Program and Human Cancer Genetics Program, Comprehensive Cancer Center, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA

75. Phenotypic Findings Of Cowden Syndrome And Bannayan-Zonana Syndrome In A Family cowden syndrome (CS) and BannayanZonana syndrome (BZS) are two hamartoma syndromeswith distinct Will the real cowden syndrome please stand up (again)? http://www.jmedgenet.com/cgi/content/abstract/36/5/360

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Peacocke, M. Related Collections Other Oncology Genetics J Med Genet 360-364 ( May ) Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN a Hui C Tsou a Fei Fei Chen a Hong Zhang a Xiao Li Ping a Mark G Lebwohl b Jeffrey Kezis a Monica Peacocke a a Department of Dermatology, Columbia Presbyterian Hospital, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, New York, New York 10032, USA, b Department of Dermatology, The Mount Sinai School of Medicine, The Mount Sinai Medical Center, One Gustave L Levy Place, Box 1130, New York, New York 10029, USA

76. Damaged Gene Links Two Poorly Understood Disorders The findings also tie LDD to cowden syndrome, also a poorly recognized “Just as with people with cowden syndrome, we recommend that people with LDD are http://researchnews.osu.edu/archive/ptenldd.htm

OSU News Research Archive Search an archive of past research stories. Coverage of OSU Research Reports on national news coverage of university research. Reporting on Cancer A reporter's guide to the disease. Science Communications Staff Who we are and what we do. (Last updated 11/5/03) Previous stories related to Professor Eng's research: "Genetic Alteractions In Stromal Breast Tissue May Make Cancer Detection More Difficult," "Gene Alterations May Predict Response To New Cancer Therapy," DAMAGED GENE LINKS TWO POORLY UNDERSTOOD DISORDERS Charis Eng The study by researchers at suggests that mutations in a gene known as PTEN are linked to Lhermitte-Duclos disease (LDD), a rare disorder that may or may not cause symptoms. American Journal of Human Genetics Cowden syndrome Charis Eng , professor of internal medicine and director of Clinical Cancer Genetics within the Human Cancer Genetics Program at the Comprehensive Cancer Center -James.

77. ASCO - Enduring CE Materials - Appendix- Genetic Differential Diagnoses By Organ Neurofibromatosis, Type 1116. cowden syndrome124128. Werner syndrome44 Follicular carcinoma, cowden syndrome124, 125, 553, 554. Werner syndrome44, 555 http://www.asco.org/ac/1,1003,_12-002519-00_18-0028816-00_19-0028817-00_20-001,0

HOME ABOUT ASCO PRESS CENTER STATE AFFILIATES ... Career Resources Pay Membership Dues, Membership Directory, Drug Database, Update Your Profile username password Remember Me Forgot your password? Create a guest account BECOME A MEMBER Journal of Clinical Oncology Journal of Oncology Practice The ASCO Foundation People Living With Cancer BECOME A SPONSOR The remember me feature is an automatic login process which creates a cookie on the hard drive of your computer containing your username and password, thereby avoiding the need to enter them upon subsequent visits to asco.org. DO NOT select this option if you share this computer with others since personal or member only information will be accessible by other users. For addition information please review our . Click OK to keep the Remember Me option, or click Cancel to remove it. When you are done, click the LOGIN button to continue with the login Process . Home Continuing Education Enduring CE Materials Appendix- Genetic Differential Diagnoses by Organ System Neoplasms Table of Contents 1. Page 1

78. PTEN Intro (7) Eng C. cowden syndrome. J Genet Counsel 1997; 6181191. (8) Liaw D, MarshDJ, Li J, Dahia PL, Wang SI, Zheng Z et al. Germline mutations of the PTEN http://www.endometrium.org/PTEN Central/Docs/pten_intro.htm

79. PTEN Mutations In Eight Spanish Families And One Brazilian Family cowden syndrome is an autosomal dominant genodermatosis, characterized by thepresence of Key Words cowden syndrome • germline mutations • PTEN http://www.jidonline.org/cgi/content/abstract/118/4/639

80. Syndromes Of The Skin Basal cell nevus syndrome Carney Complex cowden s syndrome. Urticaria and edema.Cold hypersensitivity. Vascular skin lesions http://www.thedoctorsdoctor.com/diseases/skin_syndromes.htm

Background There are number of genetic syndromes that have predominant manifestations within the skin. OUTLINE Differential Diagnosis Commonly Used Terms Internet Links AUTOSOMAL DOMINANT Blistering Epidermolysis bullosa (Cockayne) EB dystrophica EB simplex Pemphigus, Benign familial (Hailey-Hailey disease) Connective tissue abnormalities Cutis laxa Distichiaisis and lympedema Ehlers-Danlos syndrome Hereditary Sclerosing Poikiloderma Lipoatrohic diabetes Marfan's syndrome Multiple benign ring shaped skin creases Pseudoxanthoma elasticum Gastrointestinal and skin Gardner's syndrome Keratoderma with esophageal cancer Peutz-Jeghers syndrome Birt-Hogg-Dube syndrome Hair abnormalities Congenital scalp defect Hyperkeratosis Acrokeratosis verruciformis of Hopf Hyperpigmentation Alkaptonuria Hypopigmentation Albinism Light sensitivity Albinism Nail plate and nail bed defects Anonychia ectrodactyly Tumors Bannayan-Zonana syndrome Basal cell nevus syndrome Carney Complex Cowden's syndrome Urticaria and edema Cold hypersensitivity Vascular skin lesions Blue rubber bleb nevus syndrome Glomus tumors Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) AUTOSOMAL RECESSIVE Blistering Acrodermatitis enteropathica Congenital erythropoietic porphyria EB dystrophica EB letalis Tyrosinemia Connective tissue abnormalities Alkaptonuria Cockayne's syndrome Hair abnormalities

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