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Volumn 83, Issue 6, 2013, Pages 591-593

Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1;

EID: 84876804457     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12011     Document Type: Letter
Times cited : (8)

References (8)
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    • 62149124838 scopus 로고    scopus 로고
    • PMS2 involvement in patients suspected of Lynch syndrome
    • Niessen RC, Kleibeuker JH, Westers H et al. PMS2 involvement in patients suspected of Lynch syndrome. Genes Chromosomes Cancer 2009: 48 (4): 322-329.
    • (2009) Genes Chromosomes Cancer , vol.48 , Issue.4 , pp. 322-329
    • Niessen, R.C.1    Kleibeuker, J.H.2    Westers, H.3
  • 2
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • Umar A, Boland CR, Syngal S et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004: 96 (4): 261-268.
    • (2004) J Natl Cancer Inst , vol.96 , Issue.4 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Syngal, S.3
  • 3
    • 48549099663 scopus 로고    scopus 로고
    • The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    • Senter L, Clendenning M, Sotamaa K et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008: 135 (2): 419-428.
    • (2008) Gastroenterology , vol.135 , Issue.2 , pp. 419-428
    • Senter, L.1    Clendenning, M.2    Sotamaa, K.3
  • 4
    • 77951826608 scopus 로고    scopus 로고
    • Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes
    • Vaughn CP, Robles J, Swensen JJ et al. Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. Hum Mutat 2010: 31 (5): 588-593.
    • (2010) Hum Mutat , vol.31 , Issue.5 , pp. 588-593
    • Vaughn, C.P.1    Robles, J.2    Swensen, J.J.3
  • 5
    • 33646372203 scopus 로고    scopus 로고
    • Long-range PCR facilitates the identification of PMS2-specific mutations
    • Clendenning M, Hampel H, LaJeunesse J et al. Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat 2006: 27 (5): 490-495.
    • (2006) Hum Mutat , vol.27 , Issue.5 , pp. 490-495
    • Clendenning, M.1    Hampel, H.2    LaJeunesse, J.3
  • 6
    • 84861872700 scopus 로고    scopus 로고
    • Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome
    • van der Klift HM, Tops CM, Hes FJ et al. Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome. Hum Mutat 2012: 33 (7): 1051-1055.
    • (2012) Hum Mutat , vol.33 , Issue.7 , pp. 1051-1055
    • van der Klift, H.M.1    Tops, C.M.2    Hes, F.J.3
  • 7
    • 79961129383 scopus 로고    scopus 로고
    • Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome
    • Morak M, Koehler U, Schackert HK et al. Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome. J Med Genet 2011: 48 (8): 513-519.
    • (2011) J Med Genet , vol.48 , Issue.8 , pp. 513-519
    • Morak, M.1    Koehler, U.2    Schackert, H.K.3
  • 8
    • 79958144950 scopus 로고    scopus 로고
    • Mutation deep within an intron of MSH2 causes Lynch syndrome
    • Clendenning M, Buchanan DD, Walsh MD et al. Mutation deep within an intron of MSH2 causes Lynch syndrome. Fam Cancer 2011: 10 (2): 297-301.
    • (2011) Fam Cancer , vol.10 , Issue.2 , pp. 297-301
    • Clendenning, M.1    Buchanan, D.D.2    Walsh, M.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.