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Volumn 293, Issue 7, 2005, Pages 799-809

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer

(21)  Casey, Graham a   Lindor, Noralane M b   Papadopoulos, Nickolas c   Thibodeau, Stephen N b   Moskow, John c   Steelman, Scott c   Buzin, Carolyn H d   Sommer, Steve S d   Collins, Christine E c   Butz, Malinda b   Aronson, Melyssa e   Gallinger, Steven e   Barker, Melissa A f   Young, Joanne P f   Jass, Jeremy R g   Hopper, John L h   Diep, Anh i   Bapat, Bharati e   Salem, Michael c   Seminara, Daniela j   more..


Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

EID: 13844251880     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.293.7.799     Document Type: Article
Times cited : (90)

References (23)
  • 1
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-268.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 2
    • 0025848680 scopus 로고
    • The International Collaborative Group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC)
    • Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum. 1991;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
  • 3
    • 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. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;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
  • 4
    • 0037322522 scopus 로고    scopus 로고
    • 2002 William Allan Award address: Inherited human diseases: Victories, challenges, disappointments
    • de la Chapelle A. 2002 William Allan Award address: inherited human diseases: victories, challenges, disappointments. Am J Hum Genet. 2003;72:236-240.
    • (2003) Am J Hum Genet , vol.72 , pp. 236-240
    • De La Chapelle, A.1
  • 6
    • 85037324292 scopus 로고    scopus 로고
    • International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer. Mutation database. Available at: http://www.insight-group.org. Accessibility verified January 19, 2005.
    • Mutation Database
  • 7
    • 0034677493 scopus 로고    scopus 로고
    • Conversion of diploidy to haploidy
    • Yan H, Papadopoulos N, Marra G, et al. Conversion of diploidy to haploidy. Nature. 2000;403:723-724.
    • (2000) Nature , vol.403 , pp. 723-724
    • Yan, H.1    Papadopoulos, N.2    Marra, G.3
  • 8
    • 0037102317 scopus 로고    scopus 로고
    • Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements
    • Nakagawa H, Yan H, Lockman J, et al. Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements. Cancer Res. 2002;62:4579-4582
    • (2002) Cancer Res , vol.62 , pp. 4579-4582
    • Nakagawa, H.1    Yan, H.2    Lockman, J.3
  • 9
    • 0037730214 scopus 로고    scopus 로고
    • Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: High mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene
    • Wagner A, Barrows A, Wijnen JT, et al. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet. 2003;72:1088-1100.
    • (2003) Am J Hum Genet , vol.72 , pp. 1088-1100
    • Wagner, A.1    Barrows, A.2    Wijnen, J.T.3
  • 10
    • 10744223648 scopus 로고    scopus 로고
    • A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States
    • Lynch HT, Coronel SM, Okimoto R, et al. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA. 2004;291:718-724.
    • (2004) JAMA , vol.291 , pp. 718-724
    • Lynch, H.T.1    Coronel, S.M.2    Okimoto, R.3
  • 11
    • 0035502991 scopus 로고    scopus 로고
    • Phenotypic analysis of hMSH2 mutations in mouse cells carrying human chromosomes
    • Marra G, D'Atri S, Yan H, et al. Phenotypic analysis of hMSH2 mutations in mouse cells carrying human chromosomes. Cancer Res. 2001;61:7719-7721.
    • (2001) Cancer Res , vol.61 , pp. 7719-7721
    • Marra, G.1    D'Atri, S.2    Yan, H.3
  • 12
    • 0035503698 scopus 로고    scopus 로고
    • The role of hPMS1 and hPMS2 in predisposing to colorectal cancer
    • Liu T, Yan H, Kuismanen S, et al. The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. Cancer Res. 2001;61:7798-7802.
    • (2001) Cancer Res , vol.61 , pp. 7798-7802
    • Liu, T.1    Yan, H.2    Kuismanen, S.3
  • 13
    • 0037083484 scopus 로고    scopus 로고
    • Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors
    • Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol. 2002;20:1043-1048.
    • (2002) J Clin Oncol , vol.20 , pp. 1043-1048
    • Lindor, N.M.1    Burgart, L.J.2    Leontovich, O.3
  • 14
    • 0032534069 scopus 로고    scopus 로고
    • A National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer
    • Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998;58:5248-5257.
    • (1998) Cancer Res , vol.58 , pp. 5248-5257
    • Boland, C.R.1    Thibodeau, S.N.2    Hamilton, S.R.3
  • 15
    • 0029160586 scopus 로고
    • Monoallelic mutation analysis (MAMA) for identifying germline mutations
    • Papadopoulos N, Leach FS, Kinzler KW, Vogelstein B. Monoallelic mutation analysis (MAMA) for identifying germline mutations. Nat Genet. 1995;11:99-102.
    • (1995) Nat Genet , vol.11 , pp. 99-102
    • Papadopoulos, N.1    Leach, F.S.2    Kinzler, K.W.3    Vogelstein, B.4
  • 16
    • 13844271637 scopus 로고    scopus 로고
    • Analysis of hMLH1 and HMSH2 gene dosage alterations in Lynch syndrome patients by novel methods
    • In press
    • Baudhuin LM, Mai M, French AJ, et al. Analysis of hMLH1 and HMSH2 gene dosage alterations in Lynch syndrome patients by novel methods. J Mol Diagn. In press.
    • J Mol Diagn
    • Baudhuin, L.M.1    Mai, M.2    French, A.J.3
  • 17
    • 10744223648 scopus 로고    scopus 로고
    • A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States
    • Lynch HT, Coronel SM, Okimoto R, et al. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA. 2004;291:718-724.
    • (2004) JAMA , vol.291 , pp. 718-724
    • Lynch, H.T.1    Coronel, S.M.2    Okimoto, R.3
  • 18
    • 18644386133 scopus 로고    scopus 로고
    • Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach
    • Gille JJ, Hogervorst FB, Pals G, et al. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer. 2002;87:892-897.
    • (2002) Br J Cancer , vol.87 , pp. 892-897
    • Gille, J.J.1    Hogervorst, F.B.2    Pals, G.3
  • 19
    • 0142124795 scopus 로고    scopus 로고
    • Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HN-PCC) by novel techniques
    • Nakagawa H, Hampel H, de la Chapelle A. Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HN-PCC) by novel techniques. Hum Mutat. 2003;22:258.
    • (2003) Hum Mutat , vol.22 , pp. 258
    • Nakagawa, H.1    Hampel, H.2    De La Chapelle, A.3
  • 20
    • 0346363771 scopus 로고    scopus 로고
    • Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA
    • Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum Mutat. 2003;22:428-433.
    • (2003) Hum Mutat , vol.22 , pp. 428-433
    • Taylor, C.F.1    Charlton, R.S.2    Burn, J.3    Sheridan, E.4    Taylor, G.R.5
  • 21
    • 13844257115 scopus 로고    scopus 로고
    • Analysis of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients by novel methods
    • In press
    • Baudhuin LM, Ming M, French AJ, et al. Analysis of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients by novel methods. J Molec Diagn. In press.
    • J Molec Diagn
    • Baudhuin, L.M.1    Ming, M.2    French, A.J.3
  • 22
    • 0028915223 scopus 로고
    • Genetic instability occurs in the majority of young patients with colorectal cancer
    • Liu B, Farrington SM, Petersen GM, et al. Genetic instability occurs in the majority of young patients with colorectal cancer. Nat Med. 1995;1:348-352.
    • (1995) Nat Med , vol.1 , pp. 348-352
    • Liu, B.1    Farrington, S.M.2    Petersen, G.M.3
  • 23
    • 0142106934 scopus 로고    scopus 로고
    • Clinical significance of early-onset "sporadic" colorectal cancer with microsatellite instability
    • Jass JR. Clinical significance of early-onset "sporadic" colorectal cancer with microsatellite instability. Dis Colon Rectum. 2003;46:1305-1309.
    • (2003) Dis Colon Rectum , vol.46 , pp. 1305-1309
    • Jass, J.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.