Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease

Gastroenterology

Volumn 115, Issue 5, 1998, Pages 1084-1089

  Chi, S G ^a   Kim, H J ^a   Park, B J ^a   Min, H J ^a   Park, J H ^a   Kim, Y W ^a   Dong S , H ^a   Kim, B H ^a   Lee, J I ^a   Chang, Y W ^a   Chang, R ^a   Kim, W K ^a   Yang, M H ^a  

^a Kyung Hee University Hospital   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; COLON ADENOMA; COWDEN SYNDROME; DELETION MUTANT; DNA METHYLATION; FEMALE; GASTROINTESTINAL POLYPOSIS; HAMARTOMA; HUMAN; HUMAN TISSUE; JUVENILE POLYP; MISSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; SINGLE STRAND CONFORMATION POLYMORPHISM; TUMOR SUPPRESSOR GENE;

EID: 0031791817     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0016-5085(98)70078-2     Document Type: Article

References (24)

1. KM Lloyd M Dennis Cowden's disease: a possible new syndrome complex with multiple system involvement Ann Intern Med 58 1963 136 142
2. AMN Hassen, JP Fryns, Cowden syndrome, J Med Genet 32 117-119 (995).
3. YM Chen DJ Ott WC Wu DW Gelfand Cowden's disease: a case report and literature review Gastrointest Radiol 12 1987 325 329
4. GJ Carlson S Nivatvongs DC Snover Colorectal polyps in Cowden's disease (multiple hamartoma syndrome) Am J Surg Pathol 8 1984 763 770
5. MR Nelen GW Padberg EAJ Peeters AY Lin B van den Helm RR Frants V Coulon AM Goldstein MMM van Reen DF Easton RA Eeles S Hodgson JJ Mulvihill VA Murday MA Tucker ECM Mariman TM Starink BAJ Ponder HH Ropers H Kremer M Longy C Eng Localization of the gene for Cowden disease to chromosome 10q22-23 Nat Genet 13 1996 114 116
6. J Li C Yen D Liaw K Podsypanina S Bose SI Wang J Puc C Miliaresis L Rodgers R Mccombie SH Bigner BC Giovanella M Ittmann B Tycko H Hibshoosh MH Wigler R Parsons PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer Science 275 1997 1943 1947
7. PA Steck MA Pershouse SA Jasser YWK Alfred H Lin AH Ligon LA Langford ML Baumgard T Hattier T Davis C Frye R Hu B Swedlund DHF Teng HF David SV Tavtigian Identification of a candidate tumour suppressor gene, MMAC1 , at chromosome 10q23.3 that is mutated in multiple advanced cancers Nat Genet 15 1997 356 362
8. D Liaw DJ Mash J Li PLM Dahia SI Wang Z Zheng S Bose KM Call HC Tsou M Peacocke C Eng R Parsons Germline mutations of the PTEN gene in Cowden's disease, an inherited breast and thyroid cancer syndrome Nat Genet 16 1997 64 67
9. DJ March PLM Dahia Z Zheng D Liaw R Parsons RJ Gorlin C Eng Germline mutations in PTEN are present in Bannayan-Zonana syndrome Nat Genet 16 1997 333 334
10. DJ March S Roth KL Lunetta A Hemminki PLM Dahia P Sistonen Z Zheng S Caron NJ van Orsouw WF Bodmer SE Cottrell MG Dunlop D Eccles SV Hodgson H Jarvinen I Kellokumpu D Markie K Neale R Phillips P Rozen S Syngal J Vijg IPM Tomlinson LA Aaltonen C Eng Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome Cancer Res 57 1997 5017 5021
11. S Olschwang OM Serova-Sinilnikova GM Lenoir G Thomas PTEN germ-line mutations in juvenile polyposis coli Nat Genet 18 1998 12 14
12. P Guldberg P Straten A Birck V Ahrenkiel AF Kirkin J Zeuthen Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma Cancer Res 57 1997 3660 3663
13. SI Wang J Puc J Li JN Bruce P Cairns D Sidransky R Parsons Somatic mutations of PTEN in glioblastoma multiforme Cancer Res 57 1997 4183 4186
14. H Tashiro MS Blazes R Wu KR Cho S Bose SI Wang J Li R Parsons LH Ellenson Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies Cancer Res 57 1997 3935 3940
15. C Eng Cowden syndrome J Genet Counsel 6 1997 181 191
16. P Chomczynski N Sacchi Single-step method of RNA isolation by acid-guanidinium thiocyanate-phenol-chloroform extraction Anal Biochem 162 1987 156 159
17. SG Chi RW deVere White FJ Meyers D Siders F Lee PH Gumerlock p53 in prostate: frequent expressed transition mutations J Natl Cancer Inst 86 1994 926 933
18. DHF Teng R Hu H Lin T Davis D Iliev C Frye B Swedlund KL Hansen VL Vinson KL Gumpper L Ellis A El-Naggar M Frazier S Jasser L Langford J Lee GB Mills MA Pershouse RE Pllack C Tornos P Troncoso WKA Yung G Fujii A Berson R Bookstein JB Bolen SV Tavtigian PA Steck MMAC1/PTEN mutations in primary tumor specimens and cell lines Cancer Res 57 1997 5221 5225
19. RW Burt Polyposis syndrome T Yamada Textbook of gastroenterology Volume II 1991 Lippincott Philadelphia 1674 1696
20. DJ Marsh PLM Dahia V Coulon Z Zheng F Dorion-Bonnet KM Call R Little AY Lin RA Eeles AM Goldstein SV Hodgson AL Richardson BG Robinson HC Weber M Longy C Eng Allelic imbalance, including deletion of PTEN/MMAC1 , at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation Genes Chromosomes Cancer 21 1998 61 69
21. ED Lynch EA Ostermeyer MK Lee JF Arena HL Ji J Dann K Swisshelm D Suchard PM MacLeod S Kvinnsland BT Gjertsen K Heimdal H Lubs P Moller MC King Inherited mutations in PTEN that are associated with breast cancer, Cowden's disease, and juvenile polyposis Am J Hum Genet 61 1997 1254 1260
22. INK4A/MTS1 ) expression in human primary prostate carcinomas Clin Cancer Res 3 1997 1889 1897
23. YE Whang X Wu H Suzuki RE Reiter C Tran RL Vessella JW Said WB Isaacs CL Sawyers Inactivation of the tumor suppressor PTEN/MMAC1 in advanced human prostate cancer through loss of expression Proc Natl Acad Sci USA 95 1998 5246 5250
24. IM Frayling WF Bodmer IPM Tomlinson Allelic loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q Cancer Genet Cytogenet 97 1997 64 69