Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome

Diseases of the Colon and Rectum

Volumn 48, Issue 9, 2005, Pages 1714-1722

  Kim, Dae Kyoum ^a   Myung, Seung Jae ^a,c   Yang, Suk Kyun ^a   Seong, Soo Hong ^a   Kyu, Jong Kim ^a   Byeon, Jeong Sik ^a   Gin, Hyug Lee ^a   Kim, Jin Ho ^a   Young, Il Min ^a   Sun, Mi Lee ^a   Jeong, Jin Yong ^a   Song, Kyuyoung ^a   Jung, Sung Ae ^b  

^a University of Ulsan College of Medicine   (South Korea)

^b Ewha Womans University School of Medicine   (South Korea)

^c Asan Medical Center   (South Korea)

Author keywords

Cowden syndrome; Germline mutation; Phosphatase and tensin homologue deleted in chromosome 10 gene; Polyposis syndrome

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ACANTHOSIS; ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 10; CLINICAL ARTICLE; CODON; COLON POLYP; COLON POLYPOSIS; CONTROLLED STUDY; COWDEN SYNDROME; DNA DETERMINATION; EXON; FAMILIAL COLON POLYPOSIS; FAMILIAL POLYPOSIS; GASTROINTESTINAL TRACT; GENE DELETION; GENE MUTATION; HUMAN; KOREA; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PERIPHERAL BLOOD MONONUCLEAR CELL; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN DEFECT; SOMATIC MUTATION; STOMACH POLYP; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; CHROMOSOMES, HUMAN, PAIR 10; DNA MUTATIONAL ANALYSIS; EXONS; GENES, TUMOR SUPPRESSOR; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; KOREA; PHOSPHORIC MONOESTER HYDROLASES; PTEN PHOSPHOHYDROLASE; TUMOR SUPPRESSOR PROTEINS;

EID: 24144433463     PISSN: 00123706     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10350-005-0130-9     Document Type: Article

References (44)

1. MR Nelen GW Padberg EA Peeters 1996 Localization of the gene for Cowden disease to chromosome 10q22-23 Nat Genet 13 114 6
2. D Liaw DJ Marsh J Li 1997 Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome Nat Genet 16 64 7
3. PA Steck MA Pershouse SA Jasser 1997 Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers Nat Genet 15 356 62
4. DM Li H Sun 1997 TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta Cancer Res 57 2124 9
5. J Li C Yen D Liaw 1997 PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer Science 275 1943 7
6. FB Furnari HJ Huang WK Cavenee 1998 The phosphoinositol phosphatase activity of PTEN mediates a serum-sensitive G1 growth arrest in glioma cells Cancer Res 58 5002 8
7. J Li L Simpson M Takahashi 1998 The PTEN/MMAC1 tumor suppressor induces cell death that is rescued by the AKT/protein kinase B oncogene Cancer Res 58 5667 72
8. LP Weng WM Smith PL Dahia 1999 PTEN suppresses breast cancer cell growth by phosphatase activity-dependent G1 arrest followed by cell deaths Cancer Res 59 5808 14
9. K Gronbaek J Zeuthen P Guldberg E Ralfkiaer K Hou-Jensen 1998 Alterations of the MMAC1/PTEN gene in lymphoid malignancies Blood 91 4388 90
10. P Guldberg P Straten A Birck V Ahrenkiel AF Kirkin J Zeuthen 1997 Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma Cancer Res 57 3660 3
11. DH Teng R Hu H Lin 1997 MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines Cancer Res 57 5221 5
12. E Rhei L Kang F Bogomolniy MG Federici PI Borgen J Boyd 1997 Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas Cancer Res 57 3657 9
13. P Cairns K Okami S Halachmi 1997 Frequent inactivation of PTEN/MMAC1 in primary prostate cancer Cancer Res 57 4997 5000
14. JI Risinger AK Hayes A Berchuck JC Barrett 1997 PTEN/MMAC1 mutations in endometrial cancers Cancer Res 57 4736 8
15. DJ Marsh PL Dahia Z Zheng 1997 Germline mutations in PTEN are present in Bannayan-Zonana syndrome Nat Genet 16 333 4
16. XP Zhou DJ Marsh H Hampel JB Mulliken O Gimm C Eng 2000 Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arterio-venous malformations and lipomatosis Hum Mol Genet 9 765 8
17. DJ Marsh JB Kum KL Lunetta 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome Hum Mol Genet 8 1461 72
18. C Eng 2000 Will the real Cowden syndrome please stand up: revised diagnostic criteria J Med Genet 37 828 30
19. OS Salem WD Steck 1983 Cowden's disease (multiple hamartoma and neoplastic syndrome). A case report and review of the English literature J Am Acad Dermatol 8 686 96
20. YM Chen DJ Ott WC Wu DW Gelfand 1987 Cowden's disease. A case report and literature review Gastrointest Radiol 12 325 9
21. N Harada T Sugimura R Yoshimura 2003 Novel germ-line mutation of the PTEN gene in a Japanese family with Cowden disease J Gastroenterol 38 87 91
22. D Bonneau M Longy 2000 Mutations of the human PTEN gene Hum Mutat 16 109 22
23. SG Chi HJ Kim BJ Park 1998 Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease Gastroenterology 115 1084 9
24. KH Shin YJ Park JG Park 2001 PTEN gene mutations in colorectal cancers displaying microsatellite instability Cancer Lett 174 189 94
25. KH Shin JM Kim KS Rho KH Park JE Oh BM Min 2002 Inactivation of the PTEN gene by mutation, exonic deletion, and loss of transcript in human oral squamous cell carcinomas Int J Oncol 21 997 1001
26. M Orita Y Suzuki T Sekiya K Hayashi 1989 Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction Genomics 5 874 9
27. KM Lloyd 2nd M Dennis 1963 Cowden's disease: a possible new symptom complex with multiple system involvement Ann Intern Med 58 136 42
28. MR Nelen H Kremer IB Konings 1999 Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations Eur J Hum Genet 7 267 73
29. C Eng 2003 PTEN: one gene, many syndromes Hum Mutat 22 183 98
30. TM Starink JP van der Veen F Arwert 1986 The Cowden syndrome: a clinical and genetic study in 21 patients Clin Genet 29 222 33
31. C Eng 1997 Cowden syndrome J Genet Couns 6 181 91
32. PS Kay RM Soetikno R Mindelzun HS Young 1997 Diffuse esophageal glycogenic acanthosis: an endoscopic marker of Cowden's disease Am J Gastroenterol 92 1038 40
33. T Sawada N Hamano H Satoh T Okada Y Takeda H Mabuchi 2000 Mutation analysis of the PTEN/MMAC1 gene in Japanese patients with Cowden disease Jpn J Cancer Res 91 700 5
34. M Kato A Mizuki T Hayashi 2000 Cowden's disease diagnosed through mucocutaneous lesions and gastrointestinal polyps with recurrent hematochezia, unrevealed by initial diagnosis Intern Med 39 559 63
35. GJ Carlson S Nivatvongs DC Snover 1984 Colorectal polyps in Cowden's disease (multiple hamartoma syndrome) Am J Surg Pathol 8 763 70
36. IM Frayling WF Bodmer IP Tomlinson 1997 Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q Cancer Genet Cytogenet 97 64 9
37. T Maehama JE Dixon 1998 The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate J Biol Chem 273 13375 8
38. KA Waite C Eng 2002 Protean PTEN: form and function Am J Hum Genet 70 829 44
39. M Tamura J Gu K Matsumoto S Aota R Parsons KM Yamada 1998 Inhibition of cell migration, spreading and focal adhesions by tumor suppressor PTEN Science 280 1614 7
40. M Tamura J Gu EH Danen T Takino S Miyamoto KM Yamada 1999 PTEN interactions with focal adhesion kinase and suppression of the extracellular matrix-dependent phosphatidylinositol 3-kinase/Akt cell survival pathway J Biol Chem 274 20693 703
41. HB Salvesen N MacDonald A Ryan 2001 PTEN methylation is associated with advanced stage and microsatellite instability in endometrial carcinoma Int J Cancer 91 22 6
42. XP Zhou O Gimm H Hampel T Niemann MJ Walker C Eng 2000 Epigenetic PTEN silencing in malignant melanomas without PTEN mutation Am J Pathol 157 1123 8
43. YH Kang HS Lee WH Kim 2002 Promoter methylation and silencing of PTEN in gastric carcinoma Lab Invest 82 285 91
44. K Hayashi DW Yandell 1993 How sensitive Is PCR-SSCP? Hum Mutat 2 338 46