Mutations in STK11 gene in Czech Peutz-Jeghers patients

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Vasovčcák, Peter ^a   Puchmajerová, Alena ^a   Roubalík, Jan ^b   Křepelová, Anna ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b Bata Hospital   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PROTEIN KINASE LKB1; PROTEIN SERINE THREONINE KINASE; STK11 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COLONOSCOPY; CONTROLLED STUDY; CZECH REPUBLIC; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GERMLINE MUTATION; HAMARTOMA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; ONSET AGE; PEUTZ JEGHERS SYNDROME; PHENOTYPE; POLYPECTOMY; PROMOTER REGION; STOMACH CANCER; TUMOR LOCALIZATION; CASE REPORT; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

ADULT; CHILD; CHILD, PRESCHOOL; CZECH REPUBLIC; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; PEUTZ-JEGHERS SYNDROME; PROTEIN-SERINE-THREONINE KINASES;

EID: 68549087151     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-69     Document Type: Article

References (44)

1. Jeghers H Mc KV Katz KH Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance N Engl J Med 1949, 241(26):1031-1036. 15398245
2. McGarrity TJ Kulin HE Zaino RJ Peutz-Jeghers syndrome Am J Gastroenterol 2000, 95(3):596-604. 10.1111/j.1572-0241.2000.01831.x 10710046
3. Giardiello FM Welsh SB Hamilton SR Offerhaus GJ Gittelsohn AM Booker SV Krush AJ Yardley JH Luk GD Increased risk of cancer in the Peutz-Jeghers syndrome N Engl J Med 1987, 316(24):1511-1514. 3587280
4. Hemminki A Tomlinson I Markie D Jarvinen H Sistonen P Bjorkqvist AM Knuutila S Salovaara R Bodmer W Shibata D et al Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis Nat Genet 1997, 15(1):87-90. 10.1038/ng0197-87 8988175
5. Hearle N Schumacher V Menko FH Olschwang S Boardman LA Gille JJ Keller JJ Westerman AM Scott RJ Lim W et al Frequency and spectrum of cancers in the Peutz-Jeghers syndrome Clin Cancer Res 2006, 12(10):3209-3215. 10.1158/1078-0432.CCR-06-0083 16707622
6. Gruber SB Entius MM Petersen GM Laken SJ Longo PA Boyer R Levin AM Mujumdar UJ Trent JM Kinzler KW et al Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome Cancer Res 1998, 58(23):5267-5270. 9850045
7. Lim W Olschwang S Keller JJ Westerman AM Menko FH Boardman LA Scott RJ Trimbath J Giardiello FM Gruber SB et al Relative frequency and morphology of cancers in STK11 mutation carriers Gastroenterology 2004, 126(7):1788-1794. 10.1053/j.gastro.2004.03.014 15188174
8. Giardiello FM Brensinger JD Tersmette AC Goodman SN Petersen GM Booker SV Cruz-Correa M Offerhaus JA Very high risk of cancer in familial Peutz-Jeghers syndrome Gastroenterology 2000, 119(6):1447-1453. 10.1053/ gast.2000.20228 11113065
9. Spigelman AD Murday V Phillips RK Cancer and the Peutz-Jeghers syndrome Gut 1989, 30(11):1588-1590. 1434341 2599445 10.1136/gut.30.11.1588
10. Wilson DM Pitts WC Hintz RL Rosenfeld RG Testicular tumors with Peutz-Jeghers syndrome Cancer 1986, 57(11):2238-2240. 10.1002/ 1097-0142(19860601)57:11<2238::AID-CNCR2820571128>3.0.CO;2-C 3697923
11. Coen P Kulin H Ballantine T Zaino R Frauenhoffer E Boal D Inkster S Brodie A Santen R An aromatase-producing sex-cord tumor resulting in prepubertal gynecomastia N Engl J Med 1991, 324(5):317-322. 1986290
12. Young S Gooneratne S Straus FH 2nd Zeller WP Bulun SE Rosenthal IM Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome Am J Surg Pathol 1995, 19(1):50-58. 7802138
13. Podczaski E Kaminski PF Pees RC Singapuri K Sorosky JI Peutz-Jeghers syndrome with ovarian sex cord tumor with annular tubules and cervical adenoma malignum Gynecol Oncol 1991, 42(1):74-78. 10.1016/ 0090-8258(91)90234-V 1916514
14. Hemminki A Markie D Tomlinson I Avizienyte E Roth S Loukola A Bignell G Warren W Aminoff M Hoglund P et al A serine/threonine kinase gene defective in Peutz-Jeghers syndrome Nature 1998, 391(6663):184-187. 10.1038/34432 9428765
15. Jenne DE Reimann H Nezu J Friedel W Loff S Jeschke R Muller O Back W Zimmer M Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase Nat Genet 1998, 18(1):38-43. 10.1038/ng0198-38 9425897
16. Karuman P Gozani O Odze RD Zhou XC Zhu H Shaw R Brien TP Bozzuto CD Ooi D Cantley LC et al The Peutz-Jegher gene product LKB1 is a mediator of p53-dependent cell death Mol Cell 2001, 7(6):1307-1319. 10.1016/ S1097-2765(01)00258-1 11430832
17. Ylikorkala A Rossi DJ Korsisaari N Luukko K Alitalo K Henkemeyer M Makela TP Vascular abnormalities and deregulation of VEGF in Lkb1-deficient mice Science 2001, 293(5533):1323-1326. 10.1126/ science.1062074 11509733
18. Martin SG St Johnston D A role for Drosophila LKB1 in anterior-posterior axis formation and epithelial polarity Nature 2003, 421(6921):379-384. 10.1038/nature01296 12540903
19. Tovar JA Eizaguirre I Albert A Jimenez J Peutz-Jeghers syndrome in children: Report of two cases and review of the literature J Pediatr Surg 1983, 18(1):1-6. 10.1016/S0022-3468(83)80262-0 6834218
20. Utsunomiya J Gocho H Miyanaga T Hamaguchi E Kashimure A Peutz-Jeghers syndrome: Its natural course and management Johns Hopkins Med J 1975, 136(2):71-82. 1117595
21. McGarrity TJ Amos C Peutz-Jeghers syndrome: Clinicopathology and molecular alterations Cell Mol Life Sci 2006, 63(18):2135-2144. 10.1007/ s00018-006-6080-0 16952058
22. Tomlinson IP Houlston RS Peutz-Jeghers syndrome J Med Genet 1997, 34(12):1007-1011. 1051153 9429144 10.1136/jmg.34.12.1007
23. Mignogna MD Lo Muzio L Ruoppo E Errico M Amato M Satriano RA Oral manifestations of idiopathic lenticular mucocutaneous pigmentation (Laugier-Hunziker syndrome): A clinical, histopathological and ultrastructural review of 12 cases Oral Dis 1999, 5(1):80-86. 10218046
24. Shinmura K Goto M Tao H Shimizu S Otsuki Y Kobayashi H Ushida S Suzuki K Tsuneyoshi T Sugimura H A novel STK11 germline mutation in two siblings with Peutz-Jeghers syndrome complicated by primary gastric cancer Clin Genet 2005, 67(1):81-86. 10.1111/j.1399-0004.2005.00380.x 15617552
25. Hearle NC Tomlinson I Lim W Murday V Swarbrick E Lim G Phillips R Lee P O'Donohue J Trembath RC et al Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome BMC Genomics 2005, 6(1):38. 1084245 15774015 10.1186/ 1471-2164-6-38
26. Aretz S Stienen D Uhlhaas S Loff S Back W Pagenstecher C McLeod DR Graham GE Mangold E Santer R et al High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome Hum Mutat 2005, 26(6):513-519. 10.1002/humu.20253 16287113
27. Hearle NC Rudd MF Lim W Murday V Lim AG Phillips RK Lee PW O'Donohue J Morrison PJ Norman A et al Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome J Med Genet 2006, 43(4):e15. 2563227 16582077 10.1136/jmg.2005.036830
28. Volikos E Robinson J Aittomaki K Mecklin JP Jarvinen H Westerman AM de Rooji FW Vogel T Moeslein G Launonen V et al LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome J Med Genet 2006, 43(5):e18. 2564523 16648371 10.1136/jmg.2005.039875
29. Li L McVety S Younan R Liang P Du Sart D Gordon PH Hutter P Hogervorst FB Chong G Foulkes WD Distinct patterns of germ-line deletions in MLH1 and MSH2: The implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC) Hum Mutat 2006, 27(4):388. 10.1002/ humu.9417 16541406
30. Amos CI Keitheri-Cheteri MB Sabripour M Wei C McGarrity TJ Seldin MF Nations L Lynch PM Fidder HH Friedman E et al Genotype-phenotype correlations in Peutz-Jeghers syndrome J Med Genet 2004, 41(5):327-333. 1735760 15121768 10.1136/jmg.2003.010900
31. Mehenni H Blouin JL Radhakrishna U Bhardwaj SS Bhardwaj K Dixit VB Richards KF Bermejo-Fenoll A Leal AS Raval RC et al Peutz-Jeghers syndrome: Confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4 Am J Hum Genet 1997, 61(6):1327-1334. 1716075 9399902 10.1086/301644
32. Olschwang S Markie D Seal S Neale K Phillips R Cottrell S Ellis I Hodgson S Zauber P Spigelman A et al Peutz-Jeghers disease: Most, but not all, families are compatible with linkage to 19p13.3 J Med Genet 1998, 35(1):42-44. 1051185 9475093 10.1136/jmg.35.1.42
33. Chow E Meldrum CJ Crooks R Macrae F Spigelman AD Scott RJ An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus Clin Genet 2006, 70(5):409-414. 10.1111/j.1399-0004.2006.00704.x 17026623
34. Lim W Hearle N Shah B Murday V Hodgson SV Lucassen A Eccles D Talbot I Neale K Lim AG et al Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome Br J Cancer 2003, 89(2):308-313. 10.1038/sj.bjc.6601030 12865922
35. Aideyan UO Kao SC Gastric adenocarcinoma metastatic to the testes in Peutz-Jeghers syndrome Pediatr Radiol 1994, 24(7):496-497. 10.1007/ BF02015010 7885783
36. Cochet B Carrel J Desbaillets L Widgren S Peutz-Jeghers syndrome associated with gastrointestinal carcinoma. Report of two cases in a family Gut 1979, 20(2):169-175. 1419453 428830 10.1136/gut.20.2.169
37. Dong K Li B Peutz-Jeghers syndrome: Case reports and update on diagnosis and treatment Chin J Dig Dis 2004, 5(4):160-164. 10.1111/ j.1443-9573.2004.00179.x 15612885
38. Foley TR McGarrity TJ Abt AB Peutz-Jeghers syndrome: A clinicopathologic survey of the "Harrisburg family" with a 49-year follow-up Gastroenterology 1988, 95(6):1535-1540. 3181678
39. Halbert RE Peutz-Jeghers syndrome with metastasizing gastric adenocarcinoma. Report of a case Arch Pathol Lab Med 1982, 106(10):517-520. 6896982
40. Hizawa K Iida M Matsumoto T Kohrogi N Kinoshita H Yao T Fujishima M Cancer in Peutz-Jeghers syndrome Cancer 1993, 72(9):2777-2781. 10.1002/ 1097-0142(19931101)72:9<2777::AID-CNCR2820720940>3.0.CO;2-6 8402503
41. Payson BA Moumgis B Metastasizing carcinoma of the stomach in Peutz-Jeghers syndrome Ann Surg 1967, 165(1):145-151. 1617368 6018292 10.1097/00000658-196701000-00021
42. Taguchi T Suita S Taguchi S Tanaka S Peutz-Jeghers syndrome in children: high recurrence rate in short-term follow-up Asian J Surg 2003, 26(4):221-224. 14530109
43. Takahashi M Sakayori M Takahashi S Kato T Kaji M Kawahara M Suzuki T Kato S Kato S Shibata H et al A novel germline mutation of the LKB1 gene in a patient with Peutz-Jeghers syndrome with early-onset gastric cancer J Gastroenterol 2004, 39(12):1210-1214. 10.1007/s00535-004-1474-y 15622488
44. Horn RC Jr Payne WA Fine G The Peutz-Jeghers syndrome. (Gastrointestinal polyposis with mucocutaneous pigmentation): Report of a case terminating with disseminated gastrointestinal cancer Arch Pathol 1963, 76:29-37. 13954933