The 5′ region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

Human Mutation

Volumn 26, Issue 3, 2005, Pages 255-261

  Charbonnier, Françoise ^a,b   Baert Desurmont, Stephanie ^a,b   Liang, Ping ^c   Di Fiore, Frederic ^a   Martin, Cosette ^b   Frerot, Stephanie ^b   Olschwang, Sylviane ^d   Wang, Qing ^e   Buisine, Marie Pierre ^f   Gilbert, Brigitte ^g   Nilbert, Mef ^h   Lindblom, Annika ⁱ   Frebourg, Thierry ^a,b  

^a INSERM   (France)

^b ROUEN UNIVERSITY HOSPITAL   (France)

^c ROSWELL PARK CANCER INSTITUTE   (United States)

^d HÔPITAL SAINT ANTOINE   (France)

^e CENTRE LÉON BÉRARD   (France)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g POITIERS UNIVERSITY HOSPITAL   (France)

^h LUND UNIVERSITY HOSPITAL   (Sweden)

ⁱ KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Alu; Deletion; HNPCC; MSH2; QMPSF; Repeat

Indexed keywords

ARTICLE; COLORECTAL CANCER; EXON; FAMILIAL CANCER; GENE; GENE DELETION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC RECOMBINATION; HUMAN; MSH2 GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TRANSCRIPTION INITIATION; ADULT; ALU SEQUENCE; BIOLOGICAL MODEL; COLORECTAL TUMOR; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; SEQUENCE HOMOLOGY;

MSH2 PROTEIN, HUMAN; PROTEIN MSH2;

ADULT; ALU ELEMENTS; BASE SEQUENCE; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; EXONS; GENE DELETION; HUMANS; MIDDLE AGED; MODELS, GENETIC; MUTS HOMOLOG 2 PROTEIN; RECOMBINATION, GENETIC; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 24344494026     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20216     Document Type: Article

References (20)

1. Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN. 2003. Translocation and gross deletion breakpoints in human inherited disease and cancer. I: nucleotide composition and recombination-associated motifs. Hum Mutat 22:229-244.
2. Batzer MA, Deininger PL. 2002. Alu repeats and human genomic diversity. Nat Rev Genet 3:370-379.
3. Bunyan DJ, Eccles DM, Sillibourne J, Wilkins E, Thomas NS, Shea-Simonds J, Duncan PJ, Curtis CE, Robinson DO, Harvey JF, Cross NC. 2004. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer 13;91:1155-1159.
4. 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.
5. 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.
6. Deininger PL, Batzer MA. 1999. Alu repeats and human disease. Mol Genet Metab 67:183-193.
7. Di Fiore F, Charbonnier F, Martin C, Frerot S, Olschwang S, Wang Q, Boisson C, Buisine MP, Nilbert M, Lindblom A, Frebourg T. 2004. Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC. J Med Genet 41:18-20.
8. Iwahashi Y, Ito E, Yanagisawa Y, Akiyama Y, Yuasa Y, Onodera T, Maruyama K. 1998. Promoter analysis of the human mismatch repair gene hMSH2. Gene 213:141-147.
9. Jurka J. 2004. Evolutionary impact of human Alu repetitive elements. Curr Opin Genet Dev 14:603-608.
10. Jurka J, Smith T. 1988. A fundamental division in the Alu family of repeated sequences. Proc Natl Acad Sci USA 85:4775-4778.
11. Kolomietz E, Meyn MS, Pandita A, Squire JA. 2002. The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes Chromosomes Cancer 35:97-112.
12. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann N, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowski J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ, International Human Genome Sequencing Consortium. 2001. Initial sequencing and analysis of the human genome. Nature 409:860-921.
13. Lucci-Cordisco E, Zito I, Gensini F, Genuardi M. 2003. Hereditary nonpolyposis colorectal cancer and related conditions. Am J Med Genet 122A:325-334.
14. Munz M, Kieu C, Mack B, Schmitt B, Zeidler R, Gires O. 2004. The carcinoma-associated antigen EpCAM upregulates c-myc and induces cell proliferation. Oncogene 23:5748-5758.
15. Nakagawa H, Hampel H, de la Chapelle A. 2003. Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques. Hum Mutat 22:258.
16. Rudiger NS, Gregersen N, Kielland-Brandt MC. 1995. One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 23:256-260.
17. Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. 2003. 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 22:428-433.
18. Vasen HF, Watson P, Mecklin JP, Lynch HT. 1999. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116:1453-1456.
19. Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R. 2003. 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 72:1088-1100.
20. 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 MLK1 genes. Int J Cancer 103:636-641.