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Volumn 31, Issue 5, 2010, Pages 588-593

Clinical analysis of PMS2: Mutation detection and avoidance of pseudogenes

Author keywords

Lynch syndrome; PMS2; PMS2CL; Pseudogenes

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2;

EID: 77951826608     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21230     Document Type: Article
Times cited : (81)

References (24)
  • 2
    • 24144493180 scopus 로고    scopus 로고
    • Evolution of the nomenclature for the hereditary colorectal cancer syndromes
    • DOI 10.1007/s10689-004-4489-x
    • Boland CR. 2005. Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer 4:211-218. (Pubitemid 41242189)
    • (2005) Familial Cancer , vol.4 , Issue.3 , pp. 211-218
    • Boland, C.R.1
  • 6
    • 2342506542 scopus 로고    scopus 로고
    • Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome
    • DOI 10.1086/420796
    • De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT. 2004. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 74:954-964. (Pubitemid 38568968)
    • (2004) American Journal of Human Genetics , vol.74 , Issue.5 , pp. 954-964
    • De Vos, M.1    Hayward, B.E.2    Picton, S.3    Sheridan, E.4    Bonthron, D.T.5
  • 9
    • 33845523843 scopus 로고    scopus 로고
    • The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer
    • DOI 10.1007/s10689-006-0005-9
    • Halvarsson B, Lindblom A, Rambech E, Lagerstedt K, Nilbert M. 2006. The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer. Fam Cancer 5:353-358. (Pubitemid 44924111)
    • (2006) Familial Cancer , vol.5 , Issue.4 , pp. 353-358
    • Halvarsson, B.1    Lindblom, A.2    Rambech, E.3    Lagerstedt, K.4    Nilbert, M.5
  • 14
    • 67650924286 scopus 로고    scopus 로고
    • Review of the Lynch syndrome: History, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
    • Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. 2009. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 76:1-18.
    • (2009) Clin Genet , vol.76 , pp. 1-18
    • Lynch, H.T.1    Lynch, P.M.2    Lanspa, S.J.3    Snyder, C.L.4    Lynch, J.F.5    Boland, C.R.6
  • 15
    • 3142748325 scopus 로고    scopus 로고
    • Mismatch repair gene PMS2: Disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation
    • DOI 10.1158/0008-5472.CAN-03-2879
    • Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A. 2004. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res 64:4721-4727. (Pubitemid 38924513)
    • (2004) Cancer Research , vol.64 , Issue.14 , pp. 4721-4727
    • Nakagawa, H.1    Lockman, J.C.2    Frankel, W.L.3    Hampel, H.4    Steenblock, K.5    Burgart, L.J.6    Thibodeau, S.N.7    De La Chapelle, A.8
  • 20
    • 47649123223 scopus 로고    scopus 로고
    • Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: Part I. the utility of immunohistochemistry
    • DOI 10.2353/jmoldx.2008.080031
    • Shia J. 2008. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn 10:293-300. (Pubitemid 352019113)
    • (2008) Journal of Molecular Diagnostics , vol.10 , Issue.4 , pp. 293-300
    • Shia, J.1
  • 22
  • 23
    • 47649115068 scopus 로고    scopus 로고
    • Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reaction
    • Vaughn CP, Lyon E, Samowitz WS. 2008. Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reaction. J Mol Diagn 10:355-360.
    • (2008) J Mol Diagn , vol.10 , pp. 355-360
    • Vaughn, C.P.1    Lyon, E.2    Samowitz, W.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.