Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods

Journal of Molecular Diagnostics

Volumn 7, Issue 2, 2005, Pages 226-235

  Baudhuin, Linnea M ^a   Mai, Ming ^a   French, Amy J ^a   Kruckeberg, Kent E ^a   Swanson, Russell L ^a   Winters, Jennifer L ^a   Courteau, Laura K ^a   Thibodeau, Stephen N ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2;

ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; COST BENEFIT ANALYSIS; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; EXON; FAMILIAL CANCER; GENE AMPLIFICATION; GENE DOSAGE; GENE PROBE; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; PATIENT REFERRAL; POINT MUTATION; SOUTHERN BLOTTING; TIME MANAGEMENT; VALIDATION PROCESS;

EID: 18744364441     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1525-1578(10)60549-1     Document Type: Article

References (25)

1. Allen BA, Terdiman JP: Hereditary polyposis syndromes and hereditary non-polyposis colorectal cancer. Best Pract Res Clin Gastroenterol 2003, 17:237-258
2. 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. Fam Cancer (in press)
3. Peltomaki P: Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 2003, 21:1174-1179
4. Kolodner RD, Marsischky GT: Eukaryotic DNA mismatch repair. Curr Opin Genet Dev 1999, 9:89-96
5. Buermeyer AB, Deschenes SM, Baker SM, Liskay RM: Mammalian DNA mismatch repair. Annu Rev Genet 1999, 33:533-564
6. Jiricny J, Nystrom-Lahti M: Mismatch repair defects in cancer. Curr Opin Genet Dev 2000, 10:157-161
7. Peltomaki P: Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Hum Mol Genet 2001, 10:735-740
8. Lynch HT, de la Chapelle A: Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999, 36:801-818
9. Cunningham JM, Kim C-Y, Christensen ER, Tester DJ, Parc Y, Burgart LJ, Halling KC, McDonnell SK, Schaid DJ, Walsh-Vockley C, Kubly V, Nelson H, Michels VV, Thibodeau SN: The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 2001, 69:780-790
10. Nystrom-Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA, Moisio AL, Jarvinen HJ, Mecklin JP, Kinzler KW, Vogelstein B, De La Chapelle A, Peltomäki P: Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1995, 1:1203-1206
11. Mauillon JL, Michel P, Limacher JM, Latouche JB, Dechelotte P, Charbonnier F, Martin C, Moreau V, Metayer J, Paillot B, Frebourg T: 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
12. Wijnen J, van der Klift H, Vasen H, Khan PM, Menko F, Tops C, Meijers Heijboer H, Lindhout D, Moller P, Fodde R: MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 1998, 20:326-328
13. Charbonnier F, Faux G, Wang Q, Drouot N, Cordier F, Limacher JM, Saurin JC, Puisieux A, Olschwang S, Frebourg T: Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res 2000, 60:2760-2763
14. Lynch HT, Coronel SM, Okimoto R, Hampel H, Sweet K, Lynch JF, Barrows A, Wijnen J, van der Klift H, Franken P, Wagner A, Fodde R, de la Chapelle A: A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA 2004, 291:718-724
15. Miyaki M, Iijima T, Yamaguchi T, Shirahama S, Ito T, Yasuno M, Mori T: Novel germline hMSH2 genomic deletion and somatic hMSH2 mutations in a hereditary nonpolyposis colorectal cancer family. Mutat Res 2004, 548:19-25
16. Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T, Tosi M: Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 2002, 20:218-226
17. Mansfield ES, Robertson JM, Lebo RV, Lucero MY, Mayrand PE, Rappaport E, Parrella T, Sartore M, Surrey S, Fortina P: Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategies. Am J Med Genet 1993, 48:200-208
18. Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B: Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002, 70:358-368
19. Thiel CT, Kraus C, Rauch A, Ekici AB, Rautenstrauss B, Reis A: A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. Eur J Hum Genet 2003, 11:170-178
20. Innis MA, Gelfand DH, Sninsky JJ, White TJ: PCR Protocols: A Guide to Methods and Applications. Burlington, MA, Academic Press, Inc., 1989
21. Horton RM, Pease LR: Directed Mutagenesis: A Practical Approach. Oxford, IRL Press, 1991
22. 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, 30:57-69
23. Taylor CF, Charlton IRS, Burn J, Sheridan E, Taylor GR: Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary nonpolyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum Mutat 2003, 22:428-433
24. 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, 22:258-263
25. Gille JJ, Hogervorst FB, Pals G, Wijnen JT, van Schooten RJ, Dommering CJ, Meijer GA, Craanen ME, Nederlof PM, de Jong D, McElgunn CJ, Schouten JP, Menko FH: Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer 2002, 87:892-897