Gastroenterology
Volume 129, Issue 3 , Pages 846-854 , September 2005

Characterization of hMLH1 and hMSH2 Gene Dosage Alterations in Lynch Syndrome Patients

Received 21 January 2005 ,Accepted 2 June 2005.

References 

  1. Lynch HT , de la Chapelle A . Hereditary colorectal cancer . N Engl J Med . 2003;348:919–932
  2. Allen BA , Terdiman JP . Hereditary polyposis syndromes and hereditary non-polyposis colorectal cancer . Best Pract Res Clin Gastroenterol . 2003;17:237–258
  3. Peltomaki P . Role of DNA mismatch repair defects in the pathogenesis of human cancer . J Clin Oncol . 2003;21:1174–1179
  4. Baudhuin LM , Burgart LJ , Leontovich O , Thibodeau SN . Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome . Familial Cancer . 2005;4:255–265
  5. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer) . N Engl J Med . 2005;352:1851–1860
  6. Lynch HT , de la Chapelle A . Genetic susceptibility to non-polyposis colorectal cancer . J Med Genet . 1999;36:801–818
  7. Cunningham JM, Kim CY, Christensen ER, Tester DJ, Parc Y, Burgart LJ, et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas . Am J Hum Genet . 2001;69:780–790
  8. Peltomaki P . Deficient DNA mismatch repair (a common etiologic factor for colon cancer) . Hum Mol Genet . 2001;10:735–740
  9. Nakagawa H , Hampel H , de la Chapelle A . Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques . Hum Mutat . 2003;22:258
  10. Wijnen J, van der Klift H, Vasen H, Khan PM, Menko F, Tops C, et al. MSH2 genomic deletions are a frequent cause of HNPCC . Nat Genet . 1998;20:326–328
  11. Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, et al. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer . Cancer Res . 2002;62:848–853
  12. Lynch HT, Coronel SM, Okimoto R, Hampel H, Sweet K, Lynch JF, et al. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States . JAMA . 2004;291:718–724
  13. Miyaki M, Iijima T, Yamaguchi T, Shirahama S, Ito T, Yasuno M, et al. Novel germline hMSH2 genomic deletion and somatic hMSH2 mutations in a hereditary nonpolyposis colorectal cancer family . Mutat Res . 2004;548:19–25
  14. Baudhuin LM, Mai M, French AJ, Kruckeberg KE, Swanson RL, Winters JL, et al. Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods . J Mol Diagn . 2005;7:226–235
  15. Schouten JP , McElgunn CJ , Waaijer R , Zwijnenburg D , Diepvens F , Pals G . Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification . Nucleic Acids Res . 2002;30:e57
  16. Gille JJ, Hogervorst FB, Pals G, Wijnen JT, van Schooten RJ, Dommering CJ, et al. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach . Br J Cancer . 2002;87:892–897
  17. Taylor CF , Charlton RS , Burn J , Sheridan E , Taylor GR . Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer (identification of novel and recurrent deletions by MLPA) . Hum Mutat . 2003;22:428–433
  18. Wang Y, Friedl W, Lamberti C, Jungck M, Mathiak M, Pagenstecher C, et al. Hereditary nonpolyposis colorectal cancer (frequent occurrence of large genomic deletions in MSH2 and MLH1 genes) . Int J Cancer . 2003;103:636–641
  19. Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, et al. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States (high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene) . Am J Hum Genet . 2003;72:1088–1100
  20. Nystrom-Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA, Moisio AL, et al  Founding mutations and Alu-mediated recombination in hereditary colon cancer . Nat Med . 1995;1:1203–1206
  21. Mauillon JL, Michel P, Limacher JM, Latouche JB, Dechelotte P, Charbonnier F, et al. Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer . Cancer Res . 1996;56:5728–5733
  22. Viel A, Petronzelli F, Della Puppa L, Lucci-Cordisco E, Fornasarig M, Pucciarelli S, et al. Different molecular mechanisms underlie genomic deletions in the MLH1 Gene . Hum Mutat . 2002;20:368–374
  23. Chan TL, Yuen ST, Ho JW, Chan AS, Kwan K, Chung LP, et al. A novel germline 1.8-kb deletion of hMLH1 mimicking alternative splicing (a founder mutation in the Chinese population) . Oncogene . 2001;20:2976–2981
  24. Yan H, Papadopoulos N, Marra G, Perrera C, Jiricny J, Boland CR, et al. Conversion of diploidy to haploidy . Nature . 2000;403:723–724
  25. Wagner A, van der Klift H, Franken P, Wijnen J, Breukel C, Bezrookove V, et al. A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred . Genes Chromosomes Cancer . 2002;35:49–57
  26. Hutter P, Couturier A, Scott RJ, Alday P, Delozier-Blanchet C, Cachat F, et al. Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation . J Med Genet . 1996;33:636–640
  27. Froggatt NJ, Green J, Brassett C, Evans DG, Bishop DT, Kolodner R, et al. A common MSH2 mutation in English and North American HNPCC families (origin, phenotypic expression, and sex specific differences in colorectal cancer) . J Med Genet . 1999;36:97–102
  28. Peltomaki P, Aaltonen LA, Sistonen P, Pylkkanen L, Mecklin JP, Jarvinen H, et al  Genetic mapping of a locus predisposing to human colorectal cancer . Science . 1993;260:810–812
  29. Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, et al. The founder mutation MSH2*1906G→C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population . Am J Hum Genet . 2002;71:1395–1412
  30. Rudzki Z , Zazula M , Bialas M , Klimek M , Stachura J . Synchronous serrated adenoma of the appendix and high-grade ovarian carcinoma (a case demonstrating different origin of the two neoplasms) . Pol J Pathol . 2002;53:29–34
  31. Swale VJ, Quinn AG, Wheeler JM, Beck NE, Dove-Edwin I, Thomas HJ, et al. Microsatellite instability in benign skin lesions in hereditary non-polyposis colorectal cancer syndrome . J Invest Dermatol . 1999;113:901–905
  32. Takata M , Shirasaki F , Nakatani T , Takehara K . Hereditary non-polyposis colorectal cancer associated with disseminated superficial porokeratosis. Microsatellite instability in skin tumours . Br J Dermatol . 2000;143:851–855
  33. Lucci-Cordisco E , Zito I , Gensini F , Genuardi M . Hereditary nonpolyposis colorectal cancer and related conditions . Am J Med Genet . 2003;122A:325–334
  34. Terdiman JP, Gum JR, Conrad PG, Miller GA, Weinberg V, Crawley SC, et al. Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing . Gastroenterology . 2001;120:21–30
  35. Lindor NM, Rabe K, Petersen GM, Haile R, Casey G, Baron J, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency (familial colorectal cancer type X) . JAMA . 2005;293:1979–1985
  36. Gryfe R, Kim H, Hsieh ET, Aronson MD, Holowaty EJ, Bull SB, et al. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer . N Engl J Med . 2000;342:69–77
  37. Laiho P, Launonen V, Lahermo P, Esteller M, Guo M, Herman JG, et al. Low-level microsatellite instability in most colorectal carcinomas . Cancer Res . 2002;62:1166–1170
  38. Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin JP, et al  Clues to the pathogenesis of familial colorectal cancer . Science . 1993;260:812–816
  39. Ionov Y , Peinado MA , Malkhosyan S , Shibata D , Perucho M . Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis . Nature . 1993;363:558–561
  40. Thibodeau SN , Bren G , Schaid D . Microsatellite instability in cancer of the proximal colon . Science . 1993;260:816–819
  41. Potocnik U , Glavac D , Golouh R , Ravnik-Glavac M . Causes of microsatellite instability in colorectal tumors (implications for hereditary non-polyposis colorectal cancer screening) . Cancer Genet Cytogenet . 2001;126:85–96
  42. Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, et al. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines . Cancer Res . 1997;57:808–811

PII: S0016-5085(05)01128-5

doi: 10.1053/j.gastro.2005.06.026

Gastroenterology
Volume 129, Issue 3 , Pages 846-854 , September 2005

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