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Volumn 28, Issue 7, 2007, Pages 669-673

A new variant database for mismatch repair genes associated with lynch syndrome

Author keywords

HNPCC; Lynch syndrome; Mismatch repair; MLH1; MMR; MSH2; MSH6; Mutation database; PMS2

Indexed keywords

DNA; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

EID: 34447264031     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20502     Document Type: Review
Times cited : (108)

References (29)
  • 1
    • 0032242326 scopus 로고    scopus 로고
    • Molecular epidemiology of hereditary nonpolyposis colorectal cancer in Finland
    • Aaltonen LA. 1998. Molecular epidemiology of hereditary nonpolyposis colorectal cancer in Finland. Recent Results Cancer Res 154:306-311.
    • (1998) Recent Results Cancer Res , vol.154 , pp. 306-311
    • Aaltonen, L.A.1
  • 2
    • 0029585997 scopus 로고
    • Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome
    • Aarnio M, Mecklin JP, Aaltonen LA, Nystrom-Lahti M, Jarvinen HJ. 1995. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 64:430-433.
    • (1995) Int J Cancer , vol.64 , pp. 430-433
    • Aarnio, M.1    Mecklin, J.P.2    Aaltonen, L.A.3    Nystrom-Lahti, M.4    Jarvinen, H.J.5
  • 4
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    • Cartegni L, Chew SL, Krainer AR. 2002. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285-298.
    • (2002) Nat Rev Genet , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 9
    • 0033039550 scopus 로고    scopus 로고
    • A common MSH2 mutation in English and North American HNPCC families: Origin, phenotypic expression, and sex specific differences in colorectal cancer
    • Froggatt NJ, Green J, Brassett C, Evans DG, Bishop DT, Kolodner R, Maher ER. 1999. A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet 36: 97-102.
    • (1999) J Med Genet , vol.36 , pp. 97-102
    • Froggatt, N.J.1    Green, J.2    Brassett, C.3    Evans, D.G.4    Bishop, D.T.5    Kolodner, R.6    Maher, E.R.7
  • 10
    • 0036732650 scopus 로고    scopus 로고
    • Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation
    • Green J, O'Driscoll M, Barnes A, Maher ER, Bridge P, Shields K, Parfrey PS. 2002. Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation. Dis Colon Rectum 45:1223-1232.
    • (2002) Dis Colon Rectum , vol.45 , pp. 1223-1232
    • Green, J.1    O'Driscoll, M.2    Barnes, A.3    Maher, E.R.4    Bridge, P.5    Shields, K.6    Parfrey, P.S.7
  • 12
    • 0035065524 scopus 로고    scopus 로고
    • Trinucleotide expansion in haploid germ cells by gap repair
    • Kovtun IV, McMurray CT. 2001. Trinucleotide expansion in haploid germ cells by gap repair. Nat Genet 27:407-411.
    • (2001) Nat Genet , vol.27 , pp. 407-411
    • Kovtun, I.V.1    McMurray, C.T.2
  • 13
    • 0027145633 scopus 로고    scopus 로고
    • Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M, Guan XY, Zhang J, Kao FT, Chen DJ, Cerosaletti KM, Fournier REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin J-P, Jarvinen H, Peterson GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, del a Chapelle A, Kinzler KW, Vogelstein B. 1993. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75: 1215-1225.
    • Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M, Guan XY, Zhang J, Kao FT, Chen DJ, Cerosaletti KM, Fournier REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin J-P, Jarvinen H, Peterson GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, del a Chapelle A, Kinzler KW, Vogelstein B. 1993. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75: 1215-1225.
  • 14
    • 33846673079 scopus 로고    scopus 로고
    • Distinct patterns of germ-line deletions in MLH1 and MSH2: The implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)
    • Li L, McVety S, Younan R, Liang P, Du Sart D, Gordon PH, Hutter P, Hogervorst FB, Chong G, Foulkes WD. 2006. 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 27:388.
    • (2006) Hum Mutat , vol.27 , pp. 388
    • Li, L.1    McVety, S.2    Younan, R.3    Liang, P.4    Du Sart, D.5    Gordon, P.H.6    Hutter, P.7    Hogervorst, F.B.8    Chong, G.9    Foulkes, W.D.10
  • 15
    • 0142250270 scopus 로고    scopus 로고
    • Msh2 ATPase activity is essential for somatic hypermutation at a-T basepairs and for efficient class switch recombination
    • Martin A, Li Z, Lin DP, Bardwell PD, Iglesias-Ussel MD, Edelmann W, Scharff MD. 2003. Msh2 ATPase activity is essential for somatic hypermutation at a-T basepairs and for efficient class switch recombination. J Exp Med 198:1171-1178.
    • (2003) J Exp Med , vol.198 , pp. 1171-1178
    • Martin, A.1    Li, Z.2    Lin, D.P.3    Bardwell, P.D.4    Iglesias-Ussel, M.D.5    Edelmann, W.6    Scharff, M.D.7
  • 16
    • 3142663166 scopus 로고    scopus 로고
    • A role for Msh6 but not Msh3 in somatic hypermutation and class switch recombination
    • Martomo SA, Yang WW, Gearhart PJ. 2004. A role for Msh6 but not Msh3 in somatic hypermutation and class switch recombination. J Exp Med 200:61-68.
    • (2004) J Exp Med , vol.200 , pp. 61-68
    • Martomo, S.A.1    Yang, W.W.2    Gearhart, P.J.3
  • 17
    • 0037111578 scopus 로고    scopus 로고
    • Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: A HuGE review
    • Mitchell RJ, Farrington SM, Dunlop MG, Campbell H. 2002. Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. Am J Epidemiol 156:885-902.
    • (2002) Am J Epidemiol , vol.156 , pp. 885-902
    • Mitchell, R.J.1    Farrington, S.M.2    Dunlop, M.G.3    Campbell, H.4
  • 18
    • 0028818819 scopus 로고
    • 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
    • Miyaki M, Konishi M, Muraoka M, Kikuchi-Yanoshita R, Tanaka K, Iwama T, Mori T, Koike M, Ushio K, Chiba M, Nomizu S, Utsunomiya J. 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.
    • (1995) J Mol Med , vol.73 , pp. 515-520
    • Miyaki, M.1    Konishi, M.2    Muraoka, M.3    Kikuchi-Yanoshita, R.4    Tanaka, K.5    Iwama, T.6    Mori, T.7    Koike, M.8    Ushio, K.9    Chiba, M.10    Nomizu, S.11    Utsunomiya, J.12
  • 20
    • 0035760845 scopus 로고    scopus 로고
    • Genotype and phenotype in hereditary nonpolyposis colon cancer: A study of families with different vs. shared predisposing mutations
    • Peltomaki P, Gao X, Mecklin JP. 2001. Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations. Fam Cancer 1:9-15.
    • (2001) Fam Cancer , vol.1 , pp. 9-15
    • Peltomaki, P.1    Gao, X.2    Mecklin, J.P.3
  • 21
    • 4544310802 scopus 로고    scopus 로고
    • Mutations associated with HNPCC predisposition - update of ICG-HNPCC/INSiGHT mutation database
    • Peltomaki P, Vasen H. 2004. Mutations associated with HNPCC predisposition - update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 20:269-276.
    • (2004) Dis Markers , vol.20 , pp. 269-276
    • Peltomaki, P.1    Vasen, H.2
  • 25
    • 33847090714 scopus 로고    scopus 로고
    • The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome
    • in press, Epub ahead of print
    • Stuckless S, Parfrey PS, Woods MO, Cox J, Fitzgerald GW, Green JS, Green RC. The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome. Fam Cancer (in press) [Epub ahead of print.]
    • Fam Cancer
    • Stuckless, S.1    Parfrey, P.S.2    Woods, M.O.3    Cox, J.4    Fitzgerald, G.W.5    Green, J.S.6    Green, R.C.7
  • 27
    • 0025848680 scopus 로고
    • The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
    • Vasen HF, Mecklin JP, Khan PM, Lynch HT. 1991. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 34:424-425.
    • (1991) Dis Colon Rectum , vol.34 , pp. 424-425
    • Vasen, H.F.1    Mecklin, J.P.2    Khan, P.M.3    Lynch, H.T.4
  • 28
    • 0033063711 scopus 로고    scopus 로고
    • New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC
    • 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.
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3    Lynch, H.T.4
  • 29
    • 74549208765 scopus 로고
    • Heredity with reference to carcinoma
    • Warthin AS. 1913. Heredity with reference to carcinoma. Arch Intern Med 12:546-555.
    • (1913) Arch Intern Med , vol.12 , pp. 546-555
    • Warthin, A.S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.