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Volumn 6, Issue 1, 2007, Pages 1-12

The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MSH2;

EID: 33847090714     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-006-0014-8     Document Type: Article
Times cited : (31)

References (57)
  • 1
    • 4444275511 scopus 로고    scopus 로고
    • Canadian Cancer Society/National Cancer Institute of Canada , Toronto, Canada
    • Canadian Cancer Society/National Cancer Institute of Canada (2004) Canadian Cancer Statistics, Toronto, Canada
    • (2004) Canadian Cancer Statistics
  • 3
    • 33847137504 scopus 로고    scopus 로고
    • National Cancer Institute , Available via, Cited Jan 20
    • National Cancer Institute (2005) Genetics of colorectal cancer. Available via http://www.cancer.gov/cancertopics/pdq/genetics/colorectal. Cited Jan 20, 2005
    • (2005) Genetics of colorectal cancer
  • 4
    • 24144484905 scopus 로고    scopus 로고
    • The incidence of Lynch syndrome
    • de la Chapelle A (2005) The incidence of Lynch syndrome. Fam Cancer 4:233-237
    • (2005) Fam Cancer , vol.4 , pp. 233-237
    • de la Chapelle, A.1
  • 5
    • 20944443555 scopus 로고    scopus 로고
    • Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer
    • Sarroca C, Della Valle A, Fresco R, Renkonen E, Peltomaki P, Lynch HT (2005) Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer. Clin Genet 68:80-87
    • (2005) Clin Genet , vol.68 , pp. 80-87
    • Sarroca, C.1    Della Valle, A.2    Fresco, R.3    Renkonen, E.4    Peltomaki, P.5    Lynch, H.T.6
  • 6
    • 16344388386 scopus 로고    scopus 로고
    • Clinical phenotype and prevalence of hereditary nonpolyposis colorectal cancer syndrome in Chinese population
    • Zhang YZ, Sheng JQ, Li SR, Zhang H (2005) Clinical phenotype and prevalence of hereditary nonpolyposis colorectal cancer syndrome in Chinese population. World J Gastroenterol 11:1481-1488
    • (2005) World J Gastroenterol , vol.11 , pp. 1481-1488
    • Zhang, Y.Z.1    Sheng, J.Q.2    Li, S.R.3    Zhang, H.4
  • 7
    • 3843123047 scopus 로고    scopus 로고
    • Frequency of hereditary non-polyposis colorectal cancer and other colorectal cancer familial forms in Spain: A multicentre, prospective, nationwide study
    • Pinol V, Andreu M, Castells A, Paya A, Bessa X, Jover R (2004) Frequency of hereditary non-polyposis colorectal cancer and other colorectal cancer familial forms in Spain: a multicentre, prospective, nationwide study. Eur J Gastroenterol Hepatol 16:39-45
    • (2004) Eur J Gastroenterol Hepatol , vol.16 , pp. 39-45
    • Pinol, V.1    Andreu, M.2    Castells, A.3    Paya, A.4    Bessa, X.5    Jover, R.6
  • 8
    • 0141996493 scopus 로고    scopus 로고
    • Family history of colorectal cancer in a Swedish county
    • Olsson L, Lindblom A (2003) Family history of colorectal cancer in a Swedish county. Fam Cancer 2:87-93
    • (2003) Fam Cancer , vol.2 , pp. 87-93
    • Olsson, L.1    Lindblom, A.2
  • 9
    • 0036136726 scopus 로고    scopus 로고
    • Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients
    • Katballe N, Christensen M, Wikman FP, Orntoft TF, Laurberg S (2002) Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. Gut 50:43-51
    • (2002) Gut , vol.50 , pp. 43-51
    • Katballe, N.1    Christensen, M.2    Wikman, F.P.3    Orntoft, T.F.4    Laurberg, S.5
  • 17
    • 0027467494 scopus 로고
    • Extracolonic cancer in hereditary nonpolyposis colorectal cancer
    • Watson P, Lynch HT (1993) Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677-685
    • (1993) Cancer , vol.71 , pp. 677-685
    • Watson, P.1    Lynch, H.T.2
  • 18
    • 0026088343 scopus 로고
    • Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer)
    • Mecklin JP, Jarvinen HJ (1991) Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer 68:1109-1112
    • (1991) Cancer , vol.68 , pp. 1109-1112
    • Mecklin, J.P.1    Jarvinen, H.J.2
  • 20
    • 0029585997 scopus 로고
    • Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome
    • Aarnio M, Mecklin JP, Aaltonen LA, Nystrom-Lahti M, Jarvinen HJ (1995) Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 64:430-433
    • (1995) Int J Cancer , vol.64 , pp. 430-433
    • Aarnio, M.1    Mecklin, J.P.2    Aaltonen, L.A.3    Nystrom-Lahti, M.4    Jarvinen, H.J.5
  • 21
    • 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 (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.F.1    Watson, P.2    Mecklin, J.P.3    Lynch, H.T.4
  • 22
    • 0033825587 scopus 로고    scopus 로고
    • Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1
    • Syngal S, Fox EA, Eng C, Kolodner RD, Garber JE (2000) Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. J Med Genet 37:641-645
    • (2000) J Med Genet , vol.37 , pp. 641-645
    • Syngal, S.1    Fox, E.A.2    Eng, C.3    Kolodner, R.D.4    Garber, J.E.5
  • 23
    • 0033946039 scopus 로고    scopus 로고
    • DNA mismatch repair genes and colorectal cancer
    • Wheeler JM, Bodmer WF, Mortensen NJ (2000) DNA mismatch repair genes and colorectal cancer. Gut 47:148-153
    • (2000) Gut , vol.47 , pp. 148-153
    • Wheeler, J.M.1    Bodmer, W.F.2    Mortensen, N.J.3
  • 24
    • 0030882381 scopus 로고    scopus 로고
    • Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The international collaborative group on hereditary nonpolyposis colorectal cancer
    • Peltomaki P, Vasen HF (1997) Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The international collaborative group on hereditary nonpolyposis colorectal cancer. Gastroenterology 113:1146-1158
    • (1997) Gastroenterology , vol.113 , pp. 1146-1158
    • Peltomaki, P.1    Vasen, H.F.2
  • 26
    • 11444254340 scopus 로고    scopus 로고
    • Inherited susceptibilty to colorectal cancer
    • Rowley PT (2005) Inherited susceptibilty to colorectal cancer. Annu Rev Med 56:539-554
    • (2005) Annu Rev Med , vol.56 , pp. 539-554
    • Rowley, P.T.1
  • 30
    • 0035761351 scopus 로고    scopus 로고
    • Cancer risk in mismatch repair gene mutation carriers
    • Watson P, Lynch HT (2001) Cancer risk in mismatch repair gene mutation carriers. Fam Cancer 1:57-60
    • (2001) Fam Cancer , vol.1 , pp. 57-60
    • Watson, P.1    Lynch, H.T.2
  • 31
    • 0036098875 scopus 로고    scopus 로고
    • Clinical and genetic epidemiology of inherited renal disease in Newfoundland
    • Parfrey PS, Davidson WS, Green JS (2002) Clinical and genetic epidemiology of inherited renal disease in Newfoundland. Kidney Int 61:1925-1934
    • (2002) Kidney Int , vol.61 , pp. 1925-1934
    • Parfrey, P.S.1    Davidson, W.S.2    Green, J.S.3
  • 33
    • 0036732650 scopus 로고    scopus 로고
    • Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation
    • Green J, O'Driscoll M, Barnes A, Maher ER, Bridge P, Shields K, Parfrey PS (2002) Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation. Dis Colon Rectum 45:1223-1232
    • (2002) Dis Colon Rectum , vol.45 , pp. 1223-1232
    • Green, J.1    O'Driscoll, M.2    Barnes, A.3    Maher, E.R.4    Bridge, P.5    Shields, K.6    Parfrey, P.S.7
  • 37
    • 0035760845 scopus 로고    scopus 로고
    • Genotype and phenotype in hereditary nonpolyposis colon cancer: A study of families with different vs. shared predisposing mutations
    • Peltomaki P, Gao X, Mecklin JP (2001) Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations. Fam Cancer 1:9-15
    • (2001) Fam Cancer , vol.1 , pp. 9-15
    • Peltomaki, P.1    Gao, X.2    Mecklin, J.P.3
  • 39
    • 0033200024 scopus 로고    scopus 로고
    • Genetic testing in hereditary colorectal cancer: Indications and procedures
    • Terdiman JP, Conrad PG, Sleisenger MH (1999) Genetic testing in hereditary colorectal cancer: indications and procedures. Am J Gastroenterol 94:2344-2356
    • (1999) Am J Gastroenterol , vol.94 , pp. 2344-2356
    • Terdiman, J.P.1    Conrad, P.G.2    Sleisenger, M.H.3
  • 40
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 46
    • 0033039550 scopus 로고    scopus 로고
    • A common MSH2 mutation in English and North American HNPCC families: Origin, phenotypic expression, and sex specific differences in colorectal cancer
    • Froggatt NJ, Green J, Brassett C, Evans DG, Bishop DT, Kolodner R, Maher ER (1999) A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet 36:97-102
    • (1999) J Med Genet , vol.36 , pp. 97-102
    • Froggatt, N.J.1    Green, J.2    Brassett, C.3    Evans, D.G.4    Bishop, D.T.5    Kolodner, R.6    Maher, E.R.7
  • 48
    • 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 (2005) Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 42:491-496
    • (2005) J Med Genet , vol.42 , pp. 491-496
    • Quehenberger, F.1    Vasen, H.F.2    van Houwelingen, H.C.3
  • 49
    • 0036096514 scopus 로고    scopus 로고
    • Hereditary non-polyposis colorectal cancer: Current risks of colorectal cancer largely overestimated
    • Carayol J, Khlat M, Maccario J, Bonaiti-Pellie C (2002) Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated. J Med Genet 39:335-339
    • (2002) J Med Genet , vol.39 , pp. 335-339
    • Carayol, J.1    Khlat, M.2    Maccario, J.3    Bonaiti-Pellie, C.4
  • 57
    • 0028818819 scopus 로고
    • Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): Usefulness of DNA analysis for screening and diagnosis of HNPCC patients
    • Miyaki M, Konishi M, Muraoka M, Kikuchi-Yanoshita R, Tanaka K, Iwama T, Mori T, Koike M, Ushio K, Chiba M, Nomizu S, Utsunomiya J (1995) Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients. J Mol Med 73:515-520
    • (1995) J Mol Med , vol.73 , pp. 515-520
    • Miyaki, M.1    Konishi, M.2    Muraoka, M.3    Kikuchi-Yanoshita, R.4    Tanaka, K.5    Iwama, T.6    Mori, T.7    Koike, M.8    Ushio, K.9    Chiba, M.10    Nomizu, S.11    Utsunomiya, J.12


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.