Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome.
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.
Sawada
Takeshi
T
Second Department of Internal Medicine, Kanazawa University School of Medicine, 13-1 Takaramachi, Kanazawa 920-8640, Japan.
Okada
Toshihide
T
Miwa
Kazuhiro
K
Satoh
Hiro
H
Asano
Akimichi
A
Mabuchi
Hiroshi
H
D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D016147:Genes, Tumor Suppressor; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D051059:PTEN Phosphohydrolase; D010375:Pedigree; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human