Genomic Deletions in MSH2 or MLH1 Are a Frequent Cause of Hereditary Non-Polyposis Colorectal Cancer: Identification of Novel and Recurrent Deletions by MLPA

Human Mutation

Volumn 22, Issue 6, 2003, Pages 428-433

  Taylor, C F ^a   Charlton, R S ^a   Burn, J ^b   Sheridan, E ^a   Taylor, G R ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b INSTITUTE OF HUMAN GENETICS   (United Kingdom)

Author keywords

Cancer; Gene dosage; HNPCC; Lynch syndrome; MLH1; MLPA; MSH2

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; COLORECTAL CANCER; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; FAMILY HISTORY; FEMALE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MOLECULAR PROBE; MULTIPLEX LIGATION DEPENDENT PROBE ASSAY; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; RELIABILITY; TECHNIQUE;

CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA REPAIR; DNA-BINDING PROTEINS; EXONS; GENE DELETION; HAPLOTYPES; HUMANS; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; POINT MUTATION; PROTO-ONCOGENE PROTEINS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 0346363771     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10291     Document Type: Article

References (27)

1. Burn J, Chapman PD, Bishop DT, Mathers J. 1998. Diet and cancer prevention: the concerted action polyp prevention (CAPP) studies. Proc Nutr Soc 57:183-186.
2. Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T, Tosi M. 2002. Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 20:218-226.
3. Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, Saurin JC, Puisieux A, Olschwang S, Frebourg T. 2000. 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 60:2760-2763.
4. Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, Puisieux A, Frebourg T. 2002. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 62:848-853.
5. Ellis LA, Taylor CF, Taylor GR. 2000. A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning. Hum Mutat 15:556-564.
6. Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. 2002. 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 70:358-368.
7. Fidalgo P, Almeida MR, West S, Gaspar C, Maia L, Wijnen J, Albuquerque C, Curtis A, Cravo M, Fodde R, Leitao CN, Burn J. 2000. Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach. Eur J Hum Genet 8:49-53.
8. Flintoff KJ, Sheridan E, Turner G, Chu CE, Taylor GR. 2001. Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning. J Med Genet 38:129-132.
9. Gille JJ, Hogervorst FB, Pals G, Wijnen J, Van Schooten RJ, Dommering CJ, Meijer GA, Craanen ME, Nederlof PM, De Jong D, McElgunn CJ, Schouten JP, Menko FH. 2002. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer 87:892-897.
10. Kohonen-Corish M, Ross VL, Doe WF, Kool DA, Edkins E, Faragher I, Wijnen J, Khan PM, Macrae F, St. John DJ. 1996. RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. Am J Hum Genet 59:818-824.
11. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M, et al. 1993. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215-1225.
12. Liu B, Parsons RE, Hamilton SR, Petersen GM, Lynch HT, Watson P, Markowitz S, Willson JK, Green J, de la Chapelle A. 1994. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res 54:4590-4594.
13. Liu B, Farrington SM, Petersen GM, Hamilton SR, Parsons R, Papadopoulos N, Fujiwara T, Jen J, Kinzler KW, Wyllie AH. 1995. Genetic instability occurs in the majority of young patients with colorectal cancer. Nat Med 1:348-352.
14. Liu B, Parsons R, Papadopoulos N, Nicolaides NC, Lynch HT, Watson P, Jass JR, Dunlop M, Wyllie A, Peltomaki P, de la Chapelle A, Hamilton SR, Vogelstein B, Kinzler KW. 1996. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 2:169-174.
15. Mansfield ES, Robertson JM, Lebo RV, Lucero MY, Mayrand PE, Rappaport E, Parrella T, Sartore M, Surrey S, Fortina P. 1993. Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategies. Am J Med Genet 48:200-208.
16. Mary JL, Bishop T, Kolodner R, Lipford JR, Kane M, Weber W, Torhorst J, Muller H, Spycher M, Scott RJ. 1994. Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. Hum Mol Genet 3:2067-2069.
17. Millar AL, Pal T, Madlensky L, Sherman C, Temple L, Mitri A, Cheng H, Marcus V, Gallinger S, Redston M, Bapat B, Narod S. 1999. Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium. Hum Mol Genet 8:823-829.
18. Miyaki M, Konishi M, Muraoka M, Kikuchi-Yanoshita R, Tanaka K, Iwama T, Mori T, Koike M, Ushio K, Chiba M. 1995. Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients. J Mol Med 73:515-520.
19. Robinson MD, Chu CE, Turner G, Bishop DT, Taylor GR. 2000. Exon deletions and duplications in BRCA1 detected by semiquantitative PCR. Genet Test 4:49-54.
20. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. 2002. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57.
21. Thiel CT, Kraus C, Rauch A, Ekici AB, Rautenstrauss B, Reis A. 2003. A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p 11.2-12 duplications and deletions leading to HMSN/HNPP. Eur J Hum Genet 11:170-178.
22. Viel A, Petronzelli F, Della Puppa L, Lucci-Cordisco E, Fornasarig M, Pucciarelli S, Rovella V, Quaia M, Ponz de Leon M, Boiocchi M, Genuardi M. 2002. Different molecular mechanisms underlie genomic deletions in the MLH1 Gene. Hum Mutat 20:368-374.
23. Wang Q, Lasset C, Desseigne F, Saurin JC, Maugard C, Navarro C, Ruano E, Descos L, Trillet-Lenoir V, Bosset JF, Puisieux A. 1999. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. Hum Genet 105:79-85.
24. Wang Y, Friedl W, Lamberti C, Jungck M, Mathiak M, Pagenstecher C, Propping P, Mangold E. 2003. Hereditary nonpolyposis colorectal cancer: Frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int J Cancer 103:636-641.
25. Wijnen J, van der Klift H, Vasen H, Khan PM, Menko F, Tops C, Meijers Heijboer H, Lindhout D, Moller P, Fodde R. 1998. MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 20:326-328.
26. Yau SC, Bobrow M, Mathew CG, Abbs SJ. 1996. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 33:550-558.
27. Yuan Y, Han HJ, Zheng S, Park JG. 1998. Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. Dis Colon Rectum 41:434-440.