메뉴 건너뛰기




Volumn 100, Issue 2, 2009, Pages 376-380

The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome

Author keywords

Breast; G67E; HMLH1; HNPCC; Prostate

Indexed keywords

ARTICLE; FAMILIAL CANCER; GENE EXPRESSION; GENE FUNCTION; GENE LOSS; GENE MUTATION; MISMATCH REPAIR; NONHUMAN; PHENOTYPE; POLYPOSIS; PRIORITY JOURNAL;

EID: 58749111252     PISSN: 00070920     EISSN: 15321827     Source Type: Journal    
DOI: 10.1038/sj.bjc.6604860     Document Type: Article
Times cited : (14)

References (43)
  • 1
    • 0033515522 scopus 로고    scopus 로고
    • Transformation of MutL by ATP binding and hydrolysis: A switch in DNA mismatch repair
    • Ban C, Junop M, Yang W (1999) Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repair. Cell 97: 85-97
    • (1999) Cell , vol.97 , pp. 85-97
    • Ban, C.1    Junop, M.2    Yang, W.3
  • 2
    • 0032514843 scopus 로고    scopus 로고
    • Crystal structure and ATPase activity of MutL: Implications for DNA repair and mutagenesis
    • Ban C, Yang W (1998) Crystal structure and ATPase activity of MutL: Implications for DNA repair and mutagenesis. Cell 95: 541-552
    • (1998) Cell , vol.95 , pp. 541-552
    • Ban, C.1    Yang, W.2
  • 5
    • 0036838922 scopus 로고    scopus 로고
    • Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants
    • Brieger A, Trojan J, Raedle J, Plotz G, Zeuzem S (2002) Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants. Gut 51: 677-684
    • (2002) Gut , vol.51 , pp. 677-684
    • Brieger, A.1    Trojan, J.2    Raedle, J.3    Plotz, G.4    Zeuzem, S.5
  • 10
    • 0036597521 scopus 로고    scopus 로고
    • HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions
    • Heinen CD, Wilson T, Mazurek A, Berardini M, Butz C, Fishel R (2002) HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. Cancer Cell 1: 469-478
    • (2002) Cancer Cell , vol.1 , pp. 469-478
    • Heinen, C.D.1    Wilson, T.2    Mazurek, A.3    Berardini, M.4    Butz, C.5    Fishel, R.6
  • 11
  • 13
    • 0037295481 scopus 로고    scopus 로고
    • MLH1 mutations differentially affect meiotic functions in Saccharomyces cerevisiae
    • Hoffmann ER, Shcherbakova PV, Kunkel TA, Borts RH (2003) MLH1 mutations differentially affect meiotic functions in Saccharomyces cerevisiae. Genetics 163: 515-526
    • (2003) Genetics , vol.163 , pp. 515-526
    • Hoffmann, E.R.1    Shcherbakova, P.V.2    Kunkel, T.A.3    Borts, R.H.4
  • 15
    • 33746189409 scopus 로고    scopus 로고
    • Endonucleolytic function of MutLalpha in human mismatch repair
    • Kadyrov FA, Dzantiev L, Constantin N, Modrich P (2006) Endonucleolytic function of MutLalpha in human mismatch repair. Cell 126: 297-308
    • (2006) Cell , vol.126 , pp. 297-308
    • Kadyrov, F.A.1    Dzantiev, L.2    Constantin, N.3    Modrich, P.4
  • 16
    • 0037093496 scopus 로고    scopus 로고
    • Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome
    • Kariola R, Raevaara TE, Lonnqvist KE, Nystrom-Lahti M (2002) Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome. Hum Mol Genet 11: 1303-1310
    • (2002) Hum Mol Genet , vol.11 , pp. 1303-1310
    • Kariola, R.1    Raevaara, T.E.2    Lonnqvist, K.E.3    Nystrom-Lahti, M.4
  • 17
    • 34248548529 scopus 로고    scopus 로고
    • Chk1 frameshift mutation in sporadic and hereditary non-polyposis colorectal cancers with microsatellite instability
    • Kim CJ, Lee JH, Song JW, Cho YG, Kim SY, Nam SW, Yoo NJ, Park WS, Lee JY (2007) Chk1 frameshift mutation in sporadic and hereditary non-polyposis colorectal cancers with microsatellite instability. Eur J Surg Oncol 33(5): 580-585
    • (2007) Eur J Surg Oncol , vol.33 , Issue.5 , pp. 580-585
    • Kim, C.J.1    Lee, J.H.2    Song, J.W.3    Cho, Y.G.4    Kim, S.Y.5    Nam, S.W.6    Yoo, N.J.7    Park, W.S.8    Lee, J.Y.9
  • 19
    • 0001313535 scopus 로고
    • The distribution of the numbers of mutants in bacterial populations
    • Lea DE, Coulson CA (1949) The distribution of the numbers of mutants in bacterial populations. J Genet 49: 226-284
    • (1949) J Genet , vol.49 , pp. 226-284
    • Lea, D.E.1    Coulson, C.A.2
  • 20
    • 0345357346 scopus 로고    scopus 로고
    • DNA mismatch repair and cancer
    • Li GM (2003) DNA mismatch repair and cancer. Front Biosci 8: d997-1017
    • (2003) Front Biosci , vol.8
    • Li, G.M.1
  • 23
    • 0035503171 scopus 로고    scopus 로고
    • Somatic mutations in the DNA damage-response genes ATR and CHK1 in sporadic stomach tumors with microsatellite instability
    • Menoyo A, Alazzouzi H, Espin E, Armengol M, Yamamoto H, Schwartz Jr S (2001) Somatic mutations in the DNA damage-response genes ATR and CHK1 in sporadic stomach tumors with microsatellite instability. Cancer Res 61: 7727-7730
    • (2001) Cancer Res , vol.61 , pp. 7727-7730
    • Menoyo, A.1    Alazzouzi, H.2    Espin, E.3    Armengol, M.4    Yamamoto, H.5    Schwartz Jr, S.6
  • 24
    • 33750083332 scopus 로고    scopus 로고
    • Mechanisms in eukaryotic mismatch repair
    • Modrich P (2006) Mechanisms in eukaryotic mismatch repair. J Biol Chem 281: 30305-30309
    • (2006) J Biol Chem , vol.281 , pp. 30305-30309
    • Modrich, P.1
  • 29
    • 0032526172 scopus 로고    scopus 로고
    • Functional genetic tests of DNA mismatch repair protein activity in Saccharomyces cerevisiae
    • Polaczek P, Putzke AP, Leong K, Bitter GA (1998) Functional genetic tests of DNA mismatch repair protein activity in Saccharomyces cerevisiae. Gene 213: 159-167
    • (1998) Gene , vol.213 , pp. 159-167
    • Polaczek, P.1    Putzke, A.P.2    Leong, K.3    Bitter, G.A.4
  • 30
    • 0242317842 scopus 로고    scopus 로고
    • Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: A simple genetic system to assay MLH1 function
    • Quaresima B, Alifano P, Tassone P, Avvedimento EV, Costanzo FS, Venuta S (2003) Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetic system to assay MLH1 function. Biochem J 371: 183-189
    • (2003) Biochem J , vol.371 , pp. 183-189
    • Quaresima, B.1    Alifano, P.2    Tassone, P.3    Avvedimento, E.V.4    Costanzo, F.S.5    Venuta, S.6
  • 31
    • 0026445628 scopus 로고
    • Characterisation of insertion mutations in the Saccharomyces cerevisiae MSH1 and MSH2 genes: Evidence for separate mitochondrial and nuclear functions
    • Reenan RA, Kolodner RD (1992) Characterisation of insertion mutations in the Saccharomyces cerevisiae MSH1 and MSH2 genes: evidence for separate mitochondrial and nuclear functions. Genetics 132: 975-985
    • (1992) Genetics , vol.132 , pp. 975-985
    • Reenan, R.A.1    Kolodner, R.D.2
  • 33
    • 42649141957 scopus 로고    scopus 로고
    • Modifier Genes and HNPCC: Variable phenotypic expression in HNPCC and the search for modifier genes
    • Scott RJ (2008) Modifier Genes and HNPCC: variable phenotypic expression in HNPCC and the search for modifier genes. Eur J Hum Genet 16: 531-532
    • (2008) Eur J Hum Genet , vol.16 , pp. 531-532
    • Scott, R.J.1
  • 34
    • 0032915375 scopus 로고    scopus 로고
    • Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations
    • Shcherbakova PV, Kunkel TA (1999) Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations. Mol Cell Biol 19: 3177-3183
    • (1999) Mol Cell Biol , vol.19 , pp. 3177-3183
    • Shcherbakova, P.V.1    Kunkel, T.A.2
  • 37
  • 38
    • 0030962035 scopus 로고    scopus 로고
    • Hypermutability of homonucleotide runs in mismatch repair and DNA polymerase proofreading yeast mutants
    • Tran HT, Keen JD, Kricker M, Resnick MA, Gordenin DA (1997) Hypermutability of homonucleotide runs in mismatch repair and DNA polymerase proofreading yeast mutants. Mol Cell Biol 17: 2859-2865
    • (1997) Mol Cell Biol , vol.17 , pp. 2859-2865
    • Tran, H.T.1    Keen, J.D.2    Kricker, M.3    Resnick, M.A.4    Gordenin, D.A.5
  • 39
    • 0033838152 scopus 로고    scopus 로고
    • Functional studies on the candidate ATPase domains of Saccharomyces cerevisiae MutLa
    • Tran PT, Liskay RM (2000) Functional studies on the candidate ATPase domains of Saccharomyces cerevisiae MutLa. Mol Cell Biol 20: 6390-6398
    • (2000) Mol Cell Biol , vol.20 , pp. 6390-6398
    • Tran, P.T.1    Liskay, R.M.2
  • 42
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.