Document Detail

Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome.
MedLine Citation:
PMID:  15211648     Owner:  NLM     Status:  MEDLINE    
Cowden syndrome (CS), also known as multiple hamartoma syndrome, is an autosomal dominant cancer syndrome associated with high risk of breast and thyroid cancer. In three unrelated Japanese CS patients, three PTEN germline mutations were identified, including two novel ones: 589A --> T, resulting in Lys197Stop, and 219-222delAAGA. We also detected a previously reported mutation: 697C --> T, resulting in Arg233Stop. Reports from Western countries have indicated that approximately two-thirds of mutations are found in exons 5, 7, and 8, which is almost the same frequency as found in Japanese CS. No genotype-phenotype correlations have been found in CS patients from 21 Japanese families.
Takeshi Sawada; Toshihide Okada; Kazuhiro Miwa; Hiro Satoh; Akimichi Asano; Hiroshi Mabuchi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  128A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Jul 
Date Detail:
Created Date:  2004-06-22     Completed Date:  2004-12-22     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  12-4     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Second Department of Internal Medicine, Kanazawa University School of Medicine, 13-1 Takaramachi, Kanazawa 920-8640, Japan.
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MeSH Terms
DNA Mutational Analysis
Genes, Tumor Suppressor
Germ-Line Mutation
Hamartoma Syndrome, Multiple / genetics*
PTEN Phosphohydrolase
Phosphoric Monoester Hydrolases / genetics*
Tumor Suppressor Proteins / genetics*
Reg. No./Substance:
0/Tumor Suppressor Proteins; EC 3.1.3.-/Phosphoric Monoester Hydrolases; EC protein, human; EC Phosphohydrolase

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