메뉴 건너뛰기




Volumn 20, Issue 11, 2008, Pages 1101-1105

Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer

Author keywords

Denovo; Hereditary nonpolyposis colorectal cancer syndrome; MsH2 mutation

Indexed keywords

COMPLEMENTARY DNA; PROTEIN MSH2;

EID: 55349101263     PISSN: 0954691X     EISSN: None     Source Type: Journal    
DOI: 10.1097/MEG.0b013e328305e185     Document Type: Article
Times cited : (9)

References (24)
  • 1
    • 0032730774 scopus 로고    scopus 로고
    • Genetic susceptibility to non-polyposis colorectal cancer
    • Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999; 36:801-818.
    • (1999) J Med Genet , vol.36 , pp. 801-818
    • Lynch, H.T.1    de la Chapelle, A.2
  • 2
    • 0025848680 scopus 로고
    • The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
    • Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis 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
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschorf J, 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    Syngal, S.4    de la Chapelle, A.5    Ruschorf, J.6
  • 5
    • 33846703414 scopus 로고    scopus 로고
    • Novel germline and somatic mutations of the MSH2 gene in hereditary non-polyposis colorectal cancer
    • Ding DC, Huang RL, Chen CH, Chao CF, Chu TY. Novel germline and somatic mutations of the MSH2 gene in hereditary non-polyposis colorectal cancer. Clin Genet 2007; 71:190-192.
    • (2007) Clin Genet , vol.71 , pp. 190-192
    • Ding, D.C.1    Huang, R.L.2    Chen, C.H.3    Chao, C.F.4    Chu, T.Y.5
  • 9
    • 28144465438 scopus 로고    scopus 로고
    • Hereditary non-polyposis colorectal cancer: Clinical and molecular evidence for a new entity of hereditary colorectal cancer
    • Mueller-Koch Y, Vogelsang H, Kopp R, Lohse P, Keller G, Aust D, et al. Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer. Gut 2005; 54: 1733-1740.
    • (2005) Gut , vol.54 , pp. 1733-1740
    • Mueller-Koch, Y.1    Vogelsang, H.2    Kopp, R.3    Lohse, P.4    Keller, G.5    Aust, D.6
  • 10
    • 0030778613 scopus 로고    scopus 로고
    • Diagnostic microsatellite instability: Definition and correlation with mismatch repair protein expression
    • Dietmaier W, Wallinger S, Bocker T, Kullmann F, Fishel R, Ruschoff J. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res 1997; 57:4749-4756.
    • (1997) Cancer Res , vol.57 , pp. 4749-4756
    • Dietmaier, W.1    Wallinger, S.2    Bocker, T.3    Kullmann, F.4    Fishel, R.5    Ruschoff, J.6
  • 11
    • 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, Sidransky D, Eshleman JR, Burt RW, 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    Sidransky, D.4    Eshleman, J.R.5    Burt, R.W.6
  • 12
    • 21044452350 scopus 로고    scopus 로고
    • Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families
    • Grabowski M, Muelter-Koch Y, Grasbon-Frodl E, Koehter D, Keller G, Vogelsang H, et al. Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families. Gener Test 2005; 9:138-146.
    • (2005) Gener Test , vol.9 , pp. 138-146
    • Grabowski, M.1    Muelter-Koch, Y.2    Grasbon-Frodl, E.3    Koehter, D.4    Keller, G.5    Vogelsang, H.6
  • 15
    • 0031922771 scopus 로고    scopus 로고
    • Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility
    • Genuardi M, Viel A, Bonora D, Capozzi E, Bellacosa A, Leonardi F, et al. Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility. Hum Genet 1998; 102:15-20.
    • (1998) Hum Genet , vol.102 , pp. 15-20
    • Genuardi, M.1    Viel, A.2    Bonora, D.3    Capozzi, E.4    Bellacosa, A.5    Leonardi, F.6
  • 18
    • 20544467125 scopus 로고    scopus 로고
    • Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: Correction for ascertainment
    • Quehenberger F, Vasen HF, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 2005; 42:491-496.
    • (2005) J Med Genet , vol.42 , pp. 491-496
    • Quehenberger, F.1    Vasen, H.F.2    van Houwelingen, H.C.3
  • 19
    • 34250715384 scopus 로고    scopus 로고
    • Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
    • Vasen HF, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 2007; 44:353-362.
    • (2007) J Med Genet , vol.44 , pp. 353-362
    • Vasen, H.F.1    Moslein, G.2    Alonso, A.3    Bernstein, I.4    Bertario, L.5    Blanco, I.6
  • 20
    • 33746488748 scopus 로고    scopus 로고
    • Well Does Paternity Confidence Match Actual Paternity?
    • Kemnyt GA. How Well Does Paternity Confidence Match Actual Paternity? Curr Anthropol 2006; 47:513-520.
    • (2006) Curr Anthropol , vol.47 , pp. 513-520
    • How, K.G.A.1
  • 21
    • 0028062086 scopus 로고
    • Estimating the frequency of nonpaternity in Switzerland
    • Sasse G, Muller H, Chakraborty R, Ott J. Estimating the frequency of nonpaternity in Switzerland. Hum Hered 1994; 44:337-343.
    • (1994) Hum Hered , vol.44 , pp. 337-343
    • Sasse, G.1    Muller, H.2    Chakraborty, R.3    Ott, J.4
  • 23
    • 13944265646 scopus 로고    scopus 로고
    • The hamartomatous polyposis syndromes: A clinical and molecular review
    • Schreibman IR, Baker M, Amos C, McGarrity TJ. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol 2005; 100:476-490.
    • (2005) Am J Gastroenterol , vol.100 , pp. 476-490
    • Schreibman, I.R.1    Baker, M.2    Amos, C.3    McGarrity, T.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.