메뉴 건너뛰기




Volumn 7, Issue 4, 2008, Pages 339-340

The three nucleotide deletion within the 3′untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome

Author keywords

[No Author keywords available]

Indexed keywords

3' UNTRANSLATED REGION; CANCER RISK; COLORECTAL CANCER; CONTROLLED STUDY; EXON; FAMILIAL CANCER; GENE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; LETTER; MAJOR CLINICAL STUDY; MLH1 GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

EID: 55949102010     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-008-9196-6     Document Type: Letter
Times cited : (2)

References (14)
  • 1
    • 32044464530 scopus 로고    scopus 로고
    • New developments in Lynch syndrome (hereditary nonpolyposis colorectal cancer) and mismatch repair gene testing
    • SB Gruber 2006 New developments in Lynch syndrome (hereditary nonpolyposis colorectal cancer) and mismatch repair gene testing Gastroenterology 130 577 587
    • (2006) Gastroenterology , vol.130 , pp. 577-587
    • Gruber, S.B.1
  • 2
    • 41249086157 scopus 로고    scopus 로고
    • Evidence that a mutation in the MLH1 3′-untranslated region confers a mutator phenotype and mismatch repair deficiency in patients with relapsed leukemia
    • G Mao X Pan L Gu 2008 Evidence that a mutation in the MLH1 3′-untranslated region confers a mutator phenotype and mismatch repair deficiency in patients with relapsed leukemia J Biol Chem 283 3211 3216
    • (2008) J Biol Chem , vol.283 , pp. 3211-3216
    • Mao, G.1    Pan, X.2    Gu, L.3
  • 3
    • 0034213622 scopus 로고    scopus 로고
    • 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
    • F Charbonnier G Raux Q Wang 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
    • (2000) Cancer Res , vol.60 , pp. 2760-2763
    • Charbonnier, F.1    Raux, G.2    Wang, Q.3
  • 4
    • 0036468254 scopus 로고    scopus 로고
    • MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer
    • F Charbonnier S Olschwang Q Wang 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
    • (2002) Cancer Res , vol.62 , pp. 848-853
    • Charbonnier, F.1    Olschwang, S.2    Wang, Q.3
  • 5
    • 9144273165 scopus 로고    scopus 로고
    • Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC
    • F Di Fiore F Charbonnier C Martin 2004 Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC J Med Genet 42 18 20
    • (2004) J Med Genet , vol.42 , pp. 18-20
    • Di Fiore, F.1    Charbonnier, F.2    Martin, C.3
  • 6
    • 24344494026 scopus 로고    scopus 로고
    • The 5′ region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences
    • F Charbonnier S Baert-Desurmont P Liang 2005 The 5′ region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences Hum Mutat 26 255 261
    • (2005) Hum Mutat , vol.26 , pp. 255-261
    • Charbonnier, F.1    Baert-Desurmont, S.2    Liang, P.3
  • 7
    • 33847212844 scopus 로고    scopus 로고
    • Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer
    • S Baert-Desurmont MP Buisine E Bessenay 2007 Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer Eur J Hum Genet 15 383 386
    • (2007) Eur J Hum Genet , vol.15 , pp. 383-386
    • Baert-Desurmont, S.1    Buisine, M.P.2    Bessenay, E.3
  • 8
    • 0036024851 scopus 로고    scopus 로고
    • Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments
    • F Casilli ZC Di Rocco S Gad 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
    • (2002) Hum Mutat , vol.20 , pp. 218-226
    • Casilli, F.1    Di Rocco, Z.C.2    Gad, S.3
  • 9
    • 8544240875 scopus 로고    scopus 로고
    • Significant contribution of germline BRCA2 rearrangements in male breast cancer families
    • I Tournier BB Paillerets H Sobol 2004 Significant contribution of germline BRCA2 rearrangements in male breast cancer families Cancer Res 64 8143 8147
    • (2004) Cancer Res , vol.64 , pp. 8143-8147
    • Tournier, I.1    Paillerets, B.B.2    Sobol, H.3
  • 10
    • 29444442794 scopus 로고    scopus 로고
    • APP locus duplication causes autosomal dominant early-onset alzheimer disease with cerebral amyloid angiopathy
    • A Rovelet-Lecrux D Hannequin G Raux 2006 APP locus duplication causes autosomal dominant early-onset alzheimer disease with cerebral amyloid angiopathy Nat Genet 38 24 26
    • (2006) Nat Genet , vol.38 , pp. 24-26
    • Rovelet-Lecrux, A.1    Hannequin, D.2    Raux, G.3
  • 11
    • 0033063711 scopus 로고    scopus 로고
    • New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC
    • H Vasen P Watson J Mecklin H Lynch 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.1    Watson, P.2    Mecklin, J.3    Lynch, H.4
  • 12
    • 0031023545 scopus 로고    scopus 로고
    • Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer
    • A Viel M Genuardi E Capozzi 1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer Genes Chromosomes Cancer 18 8 18
    • (1997) Genes Chromosomes Cancer , vol.18 , pp. 8-18
    • Viel, A.1    Genuardi, M.2    Capozzi, E.3
  • 13
    • 17444395546 scopus 로고    scopus 로고
    • Unbalanced germ-line expression of hMLH1 and hMSH2 alleles in hereditary nonpolyposis colorectal cancer
    • M Curia R Palmirotta G Aceto 1999 Unbalanced germ-line expression of hMLH1 and hMSH2 alleles in hereditary nonpolyposis colorectal cancer Cancer Res 59 3570 3575
    • (1999) Cancer Res , vol.59 , pp. 3570-3575
    • Curia, M.1    Palmirotta, R.2    Aceto, G.3
  • 14


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.