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Volumn 56, Issue 24, 1996, Pages 5728-5733

Identification of novel germline hMLH1 mutations including a 22 kb Alu- mediated deletion in patients with familial colorectal cancer

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CODON; COLON CARCINOGENESIS; COLORECTAL CANCER; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 10544229341     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (70)

References (26)
  • 1
    • 0027248156 scopus 로고
    • Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review
    • Lynch, H T., Smyrk, T C., Watson, P., Lanspa, S J , Lynch, J F, Lynch, P M., Cavalieri, R J., and Boland, C R. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology, 104: 1535-1549, 1993.
    • (1993) Gastroenterology , vol.104 , pp. 1535-1549
    • Lynch, H.T.1    Smyrk, T.C.2    Watson, P.3    Lanspa, S.J.4    Lynch, J.F.5    Lynch, P.M.6    Cavalieri, R.J.7    Boland, C.R.8
  • 2
    • 0029089259 scopus 로고
    • Hereditary nonpolyposis colorectal cancer: The syndrome, the genes, and historical perspectives
    • Marra, G , and Boland, C. R. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J. Natl Cancer Inst., 87: 1114-1125, 1995.
    • (1995) J. Natl Cancer Inst. , vol.87 , pp. 1114-1125
    • Marra, G.1    Boland, C.R.2
  • 3
    • 0029042130 scopus 로고
    • Identification of mismatch repair genes and their role in the development of cancer
    • Fishel, R., and Kolodner, R. D Identification of mismatch repair genes and their role in the development of cancer. Curr Opin Genet. Dev , 5: 382-395, 1995.
    • (1995) Curr Opin Genet. Dev , vol.5 , pp. 382-395
    • Fishel, R.1    Kolodner, R.D.2
  • 4
    • 0027742295 scopus 로고
    • The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
    • Fishel, R., Lescoe, M K , Rao, M. R., Copeland, N G., Jenkins, N. A., Garber, J., Kane, M., and Kolodner, R The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, 75, 1027-1038, 1993.
    • (1993) Cell , vol.75 , pp. 1027-1038
    • Fishel, R.1    Lescoe, M.K.2    Rao, M.R.3    Copeland, N.G.4    Jenkins, N.A.5    Garber, J.6    Kane, M.7    Kolodner, R.8
  • 11
    • 0028966917 scopus 로고
    • Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC)
    • Han, H. J , Maruyama, M., Baba, S., Park, J. G., and Nakamura, Y Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC). Hum. Mol. Genet., 4: 237-242, 1995
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 237-242
    • Han, H.J.1    Maruyama, M.2    Baba, S.3    Park, J.G.4    Nakamura, Y.5
  • 12
    • 0028822645 scopus 로고
    • Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families
    • Tannergard, P., Lipford, J R., Kolodner, R., Frodin, J. E , Nordenskjöld, M , and Lindblom, A. Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. Cancer Res., 55, 6092-6096, 1995.
    • (1995) Cancer Res. , vol.55 , pp. 6092-6096
    • Tannergard, P.1    Lipford, J.R.2    Kolodner, R.3    Frodin, J.E.4    Nordenskjöld, M.5    Lindblom, A.6
  • 13
    • 0028818819 scopus 로고
    • Germ line mutations of hMSH2 and kMLH1 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., and Utsunomiya, J. Germ line mutations of hMSH2 and kMLH1 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.
    • (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
  • 20
    • 0028851542 scopus 로고
    • Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes
    • Buerstedde, J-M., Alday, P., Torhorst, J., Weber, W., Muller, H., and Scott, R Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. J. Med. Genet., 32: 909-912, 1995.
    • (1995) J. Med. Genet. , vol.32 , pp. 909-912
    • Buerstedde, J.-M.1    Alday, P.2    Torhorst, J.3    Weber, W.4    Muller, H.5    Scott, R.6
  • 22
    • 0027467494 scopus 로고
    • Extracolonic cancer in hereditary nonpolyposis colorectal cancer
    • Phila
    • Watson, P , and Lynch, H. T. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer (Phila), 71: 677-685, 1993
    • (1993) Cancer , vol.71 , pp. 677-685
    • Watson, P.1    Lynch, H.T.2
  • 25
    • 0025848680 scopus 로고
    • The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
    • Vasen, H F A, Mecklin, J-P., Meera Kahn, P , and Lynch, H. T. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis. Colon Rectum, 34: 424-425, 1991.
    • (1991) Dis. Colon Rectum , vol.34 , pp. 424-425
    • Vasen, H.F.A.1    Mecklin, J.-P.2    Meera Kahn, P.3    Lynch, H.T.4
  • 26
    • 0026718980 scopus 로고
    • Phosphorothioate primers improve the amplification of DNA sequences by DNA polymerase with proofreading activity
    • Skerra A. Phosphorothioate primers improve the amplification of DNA sequences by DNA polymerase with proofreading activity. Nucleic Acids Res., 20: 3551-3554, 1992.
    • (1992) Nucleic Acids Res. , vol.20 , pp. 3551-3554
    • Skerra, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.