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Volumn 42, Issue 5, 2005, Pages 267-333

Hereditary colorectal cancer - Part II
[No Author Info available]

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN; APC PROTEIN; BETA CATENIN; BONE MORPHOGENETIC PROTEIN; BONE MORPHOGENETIC PROTEIN RECEPTOR; FLUOROURACIL; K RAS PROTEIN; MISMATCH REPAIR PROTEIN PMS2; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; PROTEIN KINASE B; PROTEIN KINASE LKB1; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; PROTEIN MUTL; PROTEIN MUTS; PROTEIN P53; PROTEIN RET; TRANSFORMING GROWTH FACTOR BETA;

EID: 18444373278     PISSN: 00113840     EISSN: None     Source Type: Journal    
DOI: 10.1067/j.cpsurg.2005.02.003     Document Type: Note
Times cited : (28)

References (310)
  • 1
    • 0032730774 scopus 로고    scopus 로고
    • Genetic susceptibility to non-polyposis colorectal cancer
    • H.T. Lynch A. de la Chapelle Genetic susceptibility to non-polyposis colorectal cancer J Med Genet 36 1999 801-818
    • (1999) J. Med. Genet. , vol.36 , pp. 801-818
    • Lynch, H.T.1    de la Chapelle, A.2
  • 3
    • 0033897383 scopus 로고    scopus 로고
    • Risk of gastric cancer in hereditary nonpolyposis colorectal cancer in Korea
    • Y.J. Park K.-H. Shin J.-G. Park Risk of gastric cancer in hereditary nonpolyposis colorectal cancer in Korea Clin Cancer Res 6 2000 2994-2998
    • (2000) Clin. Cancer Res. , vol.6 , pp. 2994-2998
    • Park, Y.J.1    Shin, K.-H.2    Park, J.-G.3
  • 4
    • 0027467494 scopus 로고
    • Extracolonic cancer in hereditary nonpolyposis colorectal cancer
    • P. Watson H.T. Lynch Extracolonic cancer in hereditary nonpolyposis colorectal cancer Cancer 71 1993 677-685
    • (1993) Cancer , vol.71 , pp. 677-685
    • Watson, P.1    Lynch, H.T.2
  • 5
    • 0028034537 scopus 로고
    • The tumor spectrum in HNPCC
    • P. Watson H.T. Lynch The tumor spectrum in HNPCC Anticancer Res 14 1994 1635-1640
    • (1994) Anticancer Res. , vol.14 , pp. 1635-1640
    • Watson, P.1    Lynch, H.T.2
  • 6
    • 0032924247 scopus 로고    scopus 로고
    • A century of progress in hereditary nonpolyposis colorectal cancer (Lynch syndrome)
    • A. Thorson J.A. Knezetic H.T. Lynch A century of progress in hereditary nonpolyposis colorectal cancer (Lynch syndrome) Dis Colon Rectum 42 1999 1-9
    • (1999) Dis. Colon Rectum , vol.42 , pp. 1-9
    • Thorson, A.1    Knezetic, J.A.2    Lynch, H.T.3
  • 7
    • 74549208765 scopus 로고
    • Heredity with reference to carcinoma as shown by the study of the cases examined in the pathological laboratory of the University of Michigan, 1895-1913
    • A.S. Warthin Heredity with reference to carcinoma as shown by the study of the cases examined in the pathological laboratory of the University of Michigan, 1895-1913 Arch Intern Med 12 1913 546-555
    • (1913) Arch. Intern. Med. , vol.12 , pp. 546-555
    • Warthin, A.S.1
  • 8
    • 33749309889 scopus 로고
    • The further study of a cancer family
    • A.S. Warthin The further study of a cancer family J Cancer Res 9 1925 279-286
    • (1925) J. Cancer Res. , vol.9 , pp. 279-286
    • Warthin, A.S.1
  • 10
    • 0015077284 scopus 로고
    • Cancer family "G" revisited: 1895-1970
    • H.T. Lynch A.J. Krush Cancer family "G" revisited: 1895-1970 Cancer 27 1971 1505-1511
    • (1971) Cancer , vol.27 , pp. 1505-1511
    • Lynch, H.T.1    Krush, A.J.2
  • 11
    • 0031972603 scopus 로고    scopus 로고
    • Molecular genetics and clinical-pathology features of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome): Historical journey from pedigree anecdote to molecular genetic confirmation
    • H.T. Lynch T. Smyrk J.F. Lynch Molecular genetics and clinical-pathology features of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome): Historical journey from pedigree anecdote to molecular genetic confirmation Oncology 55 1998 103-108
    • (1998) Oncology , vol.55 , pp. 103-108
    • Lynch, H.T.1    Smyrk, T.2    Lynch, J.F.3
  • 13
    • 10744223648 scopus 로고    scopus 로고
    • An American founder mutation of the MSH2 gene may account for a significant proportion of all Lynch syndrome cases in the United States
    • H.T. Lynch S.M. Coronel R. Okimoto H. Hampel K. Sweet J.F. Lynch et al. An American founder mutation of the MSH2 gene may account for a significant proportion of all Lynch syndrome cases in the United States JAMA 291 2004 718-724
    • (2004) JAMA , vol.291 , pp. 718-724
    • Lynch, H.T.1    Coronel, S.M.2    Okimoto, R.3    Hampel, H.4    Sweet, K.5    Lynch, J.F.6
  • 14
    • 0025848680 scopus 로고
    • The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer (ICG-HNPCC)
    • H.F. Vasen J.P. Mecklin P. Khan H.T. Lynch The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer (ICG-HNPCC) Dis Colon Rectum 34 1991 424-425
    • (1991) Dis. Colon. Rectum , vol.34 , pp. 424-425
    • Vasen, H.F.1    Mecklin, J.P.2    Khan, P.3    Lynch, H.T.4
  • 15
    • 0033063711 scopus 로고    scopus 로고
    • New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC
    • ICG-HNPCC
    • H.F.A. Vasen P. Watson J.-P. Mecklin H.T. Lynch ICG-HNPCC. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC Gastroenterology 116 1999 1453-1456
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.A.1    Watson, P.2    Mecklin, J.-P.3    Lynch, H.T.4
  • 16
    • 0031551963 scopus 로고    scopus 로고
    • A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting highlights and Bethesda guidelines
    • M.A. Rodriguez-Bigas C.R. Boland S.R. Hamilton D.E. Henson J.R. Jass P.M. Khan et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting highlights and Bethesda guidelines J Natl Cancer Inst 89 1997 1758-1762
    • (1997) J. Natl. Cancer Inst. , vol.89 , pp. 1758-1762
    • Rodriguez-Bigas, M.A.1    Boland, C.R.2    Hamilton, S.R.3    Henson, D.E.4    Jass, J.R.5    Khan, P.M.6
  • 17
    • 0025761596 scopus 로고
    • The potential use of tumor registry data in the recognition and prevention of hereditary and familial cancer
    • K.L. David P. Steiner-Grossman The potential use of tumor registry data in the recognition and prevention of hereditary and familial cancer NY State J Med 91 1991 150-152
    • (1991) NY State J. Med. , vol.91 , pp. 150-152
    • David, K.L.1    Steiner-Grossman, P.2
  • 19
    • 0027314411 scopus 로고
    • Microsatellite instability in cancer of the proximal colon
    • S.N. Thibodeau G. Bren D. Schaid Microsatellite instability in cancer of the proximal colon Science 260 1993 816-819
    • (1993) Science , vol.260 , pp. 816-819
    • Thibodeau, S.N.1    Bren, G.2    Schaid, D.3
  • 21
    • 0028226295 scopus 로고
    • Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients
    • L.A. Aaltonen P. Peltomaki J.P. Mecklin H. Järvinen J.R. Jass J.S. Green et al. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients Cancer Res 54 1994 1645-1648
    • (1994) Cancer Res. , vol.54 , pp. 1645-1648
    • Aaltonen, L.A.1    Peltomaki, P.2    Mecklin, J.P.3    Järvinen, H.4    Jass, J.R.5    Green, J.S.6
  • 22
    • 0027306173 scopus 로고
    • Destabilization of tracts of simple repetitive DNA in yeast affecting DNA mismatch repair
    • M. Strand T.A. Prolia R.M. Liskay T.D. Petes Destabilization of tracts of simple repetitive DNA in yeast affecting DNA mismatch repair Nature 365 1993 274-276
    • (1993) Nature , vol.365 , pp. 274-276
    • Strand, M.1    Prolia, T.A.2    Liskay, R.M.3    Petes, T.D.4
  • 23
    • 0026355962 scopus 로고
    • Mechanisms and biological effects of mismatch repair
    • P. Modrich Mechanisms and biological effects of mismatch repair Annu Rev Genet 25 1991 229-253
    • (1991) Annu. Rev. Genet. , vol.25 , pp. 229-253
    • Modrich, P.1
  • 25
    • 0027485551 scopus 로고
    • Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer
    • A. Lindblom P. Tannergard B. Werelius M. Nordenskjold Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer Nat Genet 5 1993 279-282
    • (1993) Nat. Genet. , vol.5 , pp. 279-282
    • Lindblom, A.1    Tannergard, P.2    Werelius, B.3    Nordenskjold, M.4
  • 26
    • 0027742295 scopus 로고
    • The human mutator gene homolog MSH2 and its association with hereditary nonpolposis colon cancer
    • R. Fischel M.K. Lescoe M.R.S. Rao N.G. Copeland N.A. Jenkins J. Garber et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolposis colon cancer Cell 75 1993 1027-1038
    • (1993) Cell , vol.75 , pp. 1027-1038
    • Fischel, R.1    Lescoe, M.K.2    Rao, M.R.S.3    Copeland, N.G.4    Jenkins, N.A.5    Garber, J.6
  • 27
    • 0027145633 scopus 로고
    • Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
    • F.S. Leach N.C. Nicolaides N. Papadopoulus B. Liu J. Jen R. Parsons et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer Cell 75 1993 1215-1225
    • (1993) Cell , vol.75 , pp. 1215-1225
    • Leach, F.S.1    Nicolaides, N.C.2    Papadopoulus, N.3    Liu, B.4    Jen, J.5    Parsons, R.6
  • 28
    • 0028108802 scopus 로고
    • Mismatch repair genes on chromosome 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage
    • M. Nystrom-Lahti R. Parsons P. Sistonen L. Pylkkanen L.A. Aaltonen F.S. Leach et al. Mismatch repair genes on chromosome 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage Am J Hum Genet 55 1994 659-665
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 659-665
    • Nystrom-Lahti, M.1    Parsons, R.2    Sistonen, P.3    Pylkkanen, L.4    Aaltonen, L.A.5    Leach, F.S.6
  • 30
  • 33
    • 0028221943 scopus 로고
    • Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer
    • C.E. Bronner S.M. Baker P.T. Morrison G. Warren L.G. Smith M.K. Lescoe et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer Nature 368 1994 258-261
    • (1994) Nature , vol.368 , pp. 258-261
    • Bronner, C.E.1    Baker, S.M.2    Morrison, P.T.3    Warren, G.4    Smith, L.G.5    Lescoe, M.K.6
  • 34
    • 0028966917 scopus 로고
    • Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary nonpolyposis colorectal cancer (HNPCC)
    • H.-J. Han M. Maruyama S. Baba J.-G. Park Y. Nakamura Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary nonpolyposis colorectal cancer (HNPCC) Hum Mol Genet 4 1995 237-242
    • (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
  • 35
    • 0028833856 scopus 로고
    • Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations
    • R.D. Kolodner N.R. Hall J. Lipford M.F. Kane P.T. Morrison P.J. Finan et al. Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations Cancer Res 55 1995 242-248
    • (1995) Cancer Res. , vol.55 , pp. 242-248
    • Kolodner, R.D.1    Hall, N.R.2    Lipford, J.3    Kane, M.F.4    Morrison, P.T.5    Finan, P.J.6
  • 36
    • 19144365420 scopus 로고    scopus 로고
    • Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16
    • J. Wijnen P.M. Khan H. Vasen F.H. Menko H. van der Klift M. van der Broek et al. Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16 Am J Hum Genet 58 1996 300-307
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 300-307
    • Wijnen, J.1    Khan, P.M.2    Vasen, H.3    Menko, F.H.4    van der Klift, H.5    van der Broek, M.6
  • 37
    • 0027137935 scopus 로고
    • Hypermutability and mismatch repair deficiency in RER + tumor cells
    • R. Parsons G.M. Li M.J. Longley W.H. Fang N. Papadopoulos J. Jen et al. Hypermutability and mismatch repair deficiency in RER + tumor cells Cell 75 1993 1227-1236
    • (1993) Cell , vol.75 , pp. 1227-1236
    • Parsons, R.1    Li, G.M.2    Longley, M.J.3    Fang, W.H.4    Papadopoulos, N.5    Jen, J.6
  • 39
    • 13144266670 scopus 로고    scopus 로고
    • Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma
    • J.G. Herman A. Umar K. Polyak J.R. Graff N. Ahuja J.P. Issa et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma Proc Natl Acad Sci USA 95 1998 6870-6875
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 6870-6875
    • Herman, J.G.1    Umar, A.2    Polyak, K.3    Graff, J.R.4    Ahuja, N.5    Issa, J.P.6
  • 40
    • 0032997736 scopus 로고    scopus 로고
    • MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers
    • S.B. Simpkins T. Bocker E.M. Swisher D.G. Mutch D.J. Gersell A.J. Kovatich et al. MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers Hum Mol Genet 8 1999 661-666
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 661-666
    • Simpkins, S.B.1    Bocker, T.2    Swisher, E.M.3    Mutch, D.G.4    Gersell, D.J.5    Kovatich, A.J.6
  • 42
    • 0029070143 scopus 로고
    • Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells
    • J.T. Drummond G.M. Li M.J. Longley P. Modrich Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells Science 268 1995 1909-1912
    • (1995) Science , vol.268 , pp. 1909-1912
    • Drummond, J.T.1    Li, G.M.2    Longley, M.J.3    Modrich, P.4
  • 43
    • 0029008683 scopus 로고
    • GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells
    • F. Palombo P. Gallinari I. Iaccarino T. Lettieri M. Hughes A. D'Arrigo et al. GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells Science 268 1995 1912-1914
    • (1995) Science , vol.268 , pp. 1912-1914
    • Palombo, F.1    Gallinari, P.2    Iaccarino, I.3    Lettieri, T.4    Hughes, M.5    D'Arrigo, A.6
  • 47
    • 0033361894 scopus 로고    scopus 로고
    • Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations
    • Y. Wu M.J. Berends R.G. Mensink C. Kempinga R.H. Sijmons A.G. van Der Zee et al. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations Am J Hum Genet 65 1999 1291-1298
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1291-1298
    • Wu, Y.1    Berends, M.J.2    Mensink, R.G.3    Kempinga, C.4    Sijmons, R.H.5    van Der Zee, A.G.6
  • 49
    • 0035866348 scopus 로고    scopus 로고
    • MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer
    • J. Huang S.A. Kuismanen T. Liu R.B. Chadwick C.K. Johnson M.W. Stevens et al. MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer Cancer Res 61 2001 1619-1623
    • (2001) Cancer Res. , vol.61 , pp. 1619-1623
    • Huang, J.1    Kuismanen, S.A.2    Liu, T.3    Chadwick, R.B.4    Johnson, C.K.5    Stevens, M.W.6
  • 51
    • 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
    • A. Wagner A. Barrows J.T. Wijnen H. van der Klift P.F. Franken P. Verkuijlen 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 72 2003 1088-1100
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 1088-1100
    • Wagner, A.1    Barrows, A.2    Wijnen, J.T.3    van der Klift, H.4    Franken, P.F.5    Verkuijlen, P.6
  • 52
    • 12844264917 scopus 로고    scopus 로고
    • Expression changes in predisposition to HNPCC and FAP: A population based study
    • (abstract)
    • E. Renkonen H. Lohi Y. Zhang R. Salovaara W. Abdel-Rahman A.-L. Moisio Expression changes in predisposition to HNPCC and FAP: A population based study Familial Cancer 2 Suppl 1 2003 37 (abstract)
    • (2003) Familial Cancer , vol.2 , Issue.SUPPL. 1 , pp. 37
    • Renkonen, E.1    Lohi, H.2    Zhang, Y.3    Salovaara, R.4    Abdel-Rahman, W.5    Moisio, A.-L.6
  • 53
    • 0141973793 scopus 로고    scopus 로고
    • Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer
    • E. Renkonen Y. Zhang H. Lohi R. Salovaara W.M. Abdel-Rahman M. Nilbert et al. Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer J Clin Oncol 21 2003 3629-3637
    • (2003) J. Clin. Oncol. , vol.21 , pp. 3629-3637
    • Renkonen, E.1    Zhang, Y.2    Lohi, H.3    Salovaara, R.4    Abdel-Rahman, W.M.5    Nilbert, M.6
  • 54
    • 0032514681 scopus 로고    scopus 로고
    • Linkage disequilibrium mapping in isolated populations: The example of Finland revisited
    • A. De la Chapelle F.A. Wright Linkage disequilibrium mapping in isolated populations: The example of Finland revisited Proc Natl Acad Sci USA 95 1998 12416-12423
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 12416-12423
    • De la Chapelle, A.1    Wright, F.A.2
  • 55
    • 0028283368 scopus 로고
    • Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families
    • M. Nystrom-Lahti P. Sistonen J.P. Mecklin L. Pylkkanen L.A. Aaltonen H. Järvinen et al. Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families Proc Natl Acad Sci USA 91 1994 6054-6058
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 6054-6058
    • Nystrom-Lahti, M.1    Sistonen, P.2    Mecklin, J.P.3    Pylkkanen, L.4    Aaltonen, L.A.5    Järvinen, H.6
  • 56
    • 0345050350 scopus 로고    scopus 로고
    • DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
    • M. Nystrom-Lahti Y. Wu A.L. Moisio R.M. Hofstra J. Osinga J.P. Mecklin et al. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer Hum Mol Genet 5 1996 763-769
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 763-769
    • Nystrom-Lahti, M.1    Wu, Y.2    Moisio, A.L.3    Hofstra, R.M.4    Osinga, J.5    Mecklin, J.P.6
  • 58
    • 0034011564 scopus 로고    scopus 로고
    • Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
    • H.J. Järvinen M. Aarnio H. Mustonen K. Aktan-Collan L.A. Aaltonen P. Peltomaki et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer Gastroenterology 118 2000 829-834
    • (2000) Gastroenterology , vol.118 , pp. 829-834
    • Järvinen, H.J.1    Aarnio, M.2    Mustonen, H.3    Aktan-Collan, K.4    Aaltonen, L.A.5    Peltomaki, P.6
  • 59
    • 0036917758 scopus 로고    scopus 로고
    • The founder mutation MSH2*1906G->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population
    • W.D. Foulkes I. Thiffault S.B. Gruber M. Horwitz N. Hamel C. Lee et al. The founder mutation MSH2*1906G->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population Am J Hum Genet 71 2002 1395-1412
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1395-1412
    • Foulkes, W.D.1    Thiffault, I.2    Gruber, S.B.3    Horwitz, M.4    Hamel, N.5    Lee, C.6
  • 61
    • 0037445248 scopus 로고    scopus 로고
    • Role of DNA mismatch repair defects in the pathogenesis of human cancer
    • P. Peltomäki Role of DNA mismatch repair defects in the pathogenesis of human cancer J Clin Oncol 21 2003 1174-1179
    • (2003) J. Clin. Oncol. , vol.21 , pp. 1174-1179
    • Peltomäki, P.1
  • 62
    • 0142106934 scopus 로고    scopus 로고
    • Clinical significance of early-onset "sporadic" colorectal cancer with microsatellite instability
    • J.R. Jass Clinical significance of early-onset "sporadic" colorectal cancer with microsatellite instability Dis Colon Rectum 46 2003 1305-1309
    • (2003) Dis. Colon Rectum , vol.46 , pp. 1305-1309
    • Jass, J.R.1
  • 64
    • 0022648252 scopus 로고
    • Clinical features of colorectal carcinoma in cancer family syndrome
    • J.P. Mecklin H.J. Järvinen Clinical features of colorectal carcinoma in cancer family syndrome Dis Colon Rectum 29 1986 160-164
    • (1986) Dis. Colon Rectum , vol.29 , pp. 160-164
    • Mecklin, J.P.1    Järvinen, H.J.2
  • 65
    • 0017659342 scopus 로고
    • Undifferentiated carcinoma of the large intestine
    • N.M. Gibbs Undifferentiated carcinoma of the large intestine Histopathology 1 1977 77-84
    • (1977) Histopathology , vol.1 , pp. 77-84
    • Gibbs, N.M.1
  • 66
    • 0002997195 scopus 로고
    • Cecal, poorly differentiated adenocarcinomas, medullary-type
    • (abstract)
    • M.R. Jessurun J.C. Manivel Cecal, poorly differentiated adenocarcinomas, medullary-type Mod Pathol 5 1992 43A (abstract)
    • (1992) Mod. Pathol. , vol.5
    • Jessurun, M.R.1    Manivel, J.C.2
  • 68
    • 0028276666 scopus 로고
    • Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellie sequences
    • H. Kim J. Jen B. Vogelstein S.R. Hamilton Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellie sequences Am J Pathol 145 1994 148-156
    • (1994) Am. J. Pathol. , vol.145 , pp. 148-156
    • Kim, H.1    Jen, J.2    Vogelstein, B.3    Hamilton, S.R.4
  • 69
    • 10344228783 scopus 로고    scopus 로고
    • Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes
    • S.N. Thibodeau A.J. French P.C. Roche J.M. Cunningham D.J. Tester N.M. et al. Lindor Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes Cancer Res 56 1996 4836-4840
    • (1996) Cancer Res. , vol.56 , pp. 4836-4840
    • Thibodeau, S.N.1    French, A.J.2    Roche, P.C.3    Cunningham, J.M.4    Tester, D.J.5    Lindor, N.M.6
  • 70
    • 0003035233 scopus 로고
    • Histologic features of hereditary nonpolyposis colorectal carcinoma
    • J. Utsunomiya H.T. Lynch, editors. Springer-Verlag Tokyo
    • T.C. Smyrk H.T. Lynchn P.A. Watson H.D. Appelman Histologic features of hereditary nonpolyposis colorectal carcinoma In: J. Utsunomiya H.T. Lynch, editors. Hereditary Colorectal Cancer 1990 Springer-Verlag Tokyo 357-362
    • (1990) Hereditary Colorectal Cancer , pp. 357-362
    • Smyrk, T.C.1    Lynchn, H.T.2    Watson, P.A.3    Appelman, H.D.4
  • 71
    • 0025424347 scopus 로고
    • Crohn's-like lymphoid reaction and colorectal carcinoma: A potential histologic prognosticator
    • D.M. Graham H.D. Appelman Crohn's-like lymphoid reaction and colorectal carcinoma: A potential histologic prognosticator Mod Pathol 3 1990 332-335
    • (1990) Mod. Pathol. , vol.3 , pp. 332-335
    • Graham, D.M.1    Appelman, H.D.2
  • 72
    • 18844464796 scopus 로고    scopus 로고
    • Colorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family members
    • P. Watson K.M. Lin M.A. Rodriguez-Bigas T. Smyrk S. Lemon M. Shashidharan et al. Colorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family members Cancer 83 1998 259-266
    • (1998) Cancer , vol.83 , pp. 259-266
    • Watson, P.1    Lin, K.M.2    Rodriguez-Bigas, M.A.3    Smyrk, T.4    Lemon, S.5    Shashidharan, M.6
  • 76
    • 0023886544 scopus 로고
    • Natural history of colorectal cancer in hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II)
    • H.T. Lynch P. Watson S.J. Lanspa J. Marcus T. Smyrk R.J. Fitzgibbons Jr et al. Natural history of colorectal cancer in hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II) Dis Colon Rectum 31 1988 439-444
    • (1988) Dis. Colon Rectum , vol.31 , pp. 439-444
    • Lynch, H.T.1    Watson, P.2    Lanspa, S.J.3    Marcus, J.4    Smyrk, T.5    Fitzgibbons Jr., R.J.6
  • 78
    • 0035875903 scopus 로고    scopus 로고
    • Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal carcinoma
    • T.C. Smyrk P. Watson K. Kaul H.T. Lynch Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal carcinoma Cancer 91 2001 2417-2422
    • (2001) Cancer , vol.91 , pp. 2417-2422
    • Smyrk, T.C.1    Watson, P.2    Kaul, K.3    Lynch, H.T.4
  • 79
    • 0029966487 scopus 로고    scopus 로고
    • Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome
    • J.I. Risinger J.C. Barrett P. Watson H.T. Lynch J. Boyd Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome Cancer 77 1996 1836-1843
    • (1996) Cancer , vol.77 , pp. 1836-1843
    • Risinger, J.I.1    Barrett, J.C.2    Watson, P.3    Lynch, H.T.4    Boyd, J.5
  • 80
    • 0019515269 scopus 로고
    • The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome
    • H.T. Lynch P.M. Lynch J. Pester R.M. Fusaro The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome Arch Intern Med 141 1981 607-611
    • (1981) Arch. Intern. Med. , vol.141 , pp. 607-611
    • Lynch, H.T.1    Lynch, P.M.2    Pester, J.3    Fusaro, R.M.4
  • 81
    • 0003017311 scopus 로고
    • Sebaceous neoplasia and visceral cancer (Torre's syndrome) and its relationship to the cancer family syndrome
    • H.T. Lynch R.M. Fusaro editors. Van Nostrand Reinhold New York
    • H.T. Lynch P.M. Lynch J.A. Pester R.M. Fusaro Sebaceous neoplasia and visceral cancer (Torre's syndrome) and its relationship to the cancer family syndrome In: H.T. Lynch R.M. Fusaro editors. Cancer-Associated Genodermatoses 1982 Van Nostrand Reinhold New York
    • (1982) Cancer-Associated Genodermatoses
    • Lynch, H.T.1    Lynch, P.M.2    Pester, J.A.3    Fusaro, R.M.4
  • 82
    • 0022006650 scopus 로고
    • Muir-Torre syndrome in several members of a family with a variant of the cancer family syndrome
    • H.T. Lynch R.M. Fusaro L. Roberts G.J. Voorhees J.F. Lynch Muir-Torre syndrome in several members of a family with a variant of the cancer family syndrome Br J Dermatol 113 1985 295-301
    • (1985) Br. J. Dermatol. , vol.113 , pp. 295-301
    • Lynch, H.T.1    Fusaro, R.M.2    Roberts, L.3    Voorhees, G.J.4    Lynch, J.F.5
  • 83
    • 0027515364 scopus 로고
    • Muir-Torre syndrome: Heterogeneity, natural history, diagnosis, and management
    • H.T. Lynch R.M. Fusaro Muir-Torre syndrome: Heterogeneity, natural history, diagnosis, and management Prob Gen Surg 10 1993 1-14
    • (1993) Prob. Gen. Surg. , vol.10 , pp. 1-14
    • Lynch, H.T.1    Fusaro, R.M.2
  • 85
    • 1642633537 scopus 로고    scopus 로고
    • Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria
    • R. Kruse A. Rutten C. Lamberti H.R. Hosseiny-Malayeri Y. Wang C. Ruelfs et al. Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria Am J Hum Genet 63 1998 63-70
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 63-70
    • Kruse, R.1    Rutten, A.2    Lamberti, C.3    Hosseiny-Malayeri, H.R.4    Wang, Y.5    Ruelfs, C.6
  • 86
    • 0023204649 scopus 로고
    • Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch syndromes I and II)
    • R.J. Fitzgibbons Jr H.T. Lynch G.V. Stanislav P.A. Watson S.J. Lanspa J.N. Marcus et al. Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch syndromes I and II) Ann Surg 206 1987 289-295
    • (1987) Ann. Surg. , vol.206 , pp. 289-295
    • Fitzgibbons Jr., R.J.1    Lynch, H.T.2    Stanislav, G.V.3    Watson, P.A.4    Lanspa, S.J.5    Marcus, J.N.6
  • 87
    • 0032460496 scopus 로고    scopus 로고
    • Hereditary colon cancers can be tiny: A cautionary case report of the results of colonoscopic surveillance
    • J. Church Hereditary colon cancers can be tiny: A cautionary case report of the results of colonoscopic surveillance Am J Gastroenterol 93 1998 2289-2290
    • (1998) Am. J. Gastroenterol. , vol.93 , pp. 2289-2290
    • Church, J.1
  • 89
    • 0030064756 scopus 로고    scopus 로고
    • Is there a role for prophylactic subtotal colectomy among hereditary nonpolyposis colorectal cancer germline mutation carriers?
    • H.T. Lynch Is there a role for prophylactic subtotal colectomy among hereditary nonpolyposis colorectal cancer germline mutation carriers? Dis Colon Rectum 39 1996 109-110
    • (1996) Dis. Colon Rectum , vol.39 , pp. 109-110
    • Lynch, H.T.1
  • 90
    • 0030451233 scopus 로고    scopus 로고
    • Prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer
    • J.M. Church Prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer Ann Med 28 1996 479-482
    • (1996) Ann. Med. , vol.28 , pp. 479-482
    • Church, J.M.1
  • 93
    • 0029049854 scopus 로고
    • Colorectal adenoma progression and genetic change: Is there a link?
    • J.R. Jass Colorectal adenoma progression and genetic change: Is there a link? Ann Med 27 1995 301-306
    • (1995) Ann. Med. , vol.27 , pp. 301-306
    • Jass, J.R.1
  • 94
    • 0026511623 scopus 로고
    • Evolution of hereditary non-polyposis colorectal cancer
    • J.R. Jass S.M. Stewart Evolution of hereditary non-polyposis colorectal cancer Gut 33 1992 783-786
    • (1992) Gut. , vol.33 , pp. 783-786
    • Jass, J.R.1    Stewart, S.M.2
  • 95
    • 0030061148 scopus 로고    scopus 로고
    • Better survival rates in patients with MLH1-associated hereditary colorectal cancer
    • R. Sankila L.A. Aaltonen H.J. Järvinen J.-P. Mecklin Better survival rates in patients with MLH1-associated hereditary colorectal cancer Gastroenterology 110 1996 682-687
    • (1996) Gastroenterology , vol.110 , pp. 682-687
    • Sankila, R.1    Aaltonen, L.A.2    Järvinen, H.J.3    Mecklin, J.-P.4
  • 96
    • 0029005780 scopus 로고
    • Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome)
    • H.F. Vasen F.M. Nagengast P.M. Khan Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome) Lancet 345 1995 1183-1184
    • (1995) Lancet , vol.345 , pp. 1183-1184
    • Vasen, H.F.1    Nagengast, F.M.2    Khan, P.M.3
  • 97
    • 3342899032 scopus 로고
    • Adenoma of the rectum in children: Report of a case in a thirty month old girl
    • M. Diamond Adenoma of the rectum in children: Report of a case in a thirty month old girl Am J Dis Child 57 1939 360-367
    • (1939) Am. J. Dis. Child , vol.57 , pp. 360-367
    • Diamond, M.1
  • 98
    • 0006699983 scopus 로고
    • Gastrointestinal polypoid lesions in childhood
    • J. Mauro J.T. Prior Gastrointestinal polypoid lesions in childhood Cancer 10 1957 131-137
    • (1957) Cancer , vol.10 , pp. 131-137
    • Mauro, J.1    Prior, J.T.2
  • 99
    • 0001646237 scopus 로고
    • Polyps of the rectum and colon in children
    • E.G. Horrilleno C. Eckert L.V. Ackerman Polyps of the rectum and colon in children Cancer 10 1957 1210-1212
    • (1957) Cancer , vol.10 , pp. 1210-1212
    • Horrilleno, E.G.1    Eckert, C.2    Ackerman, L.V.3
  • 100
    • 0000387258 scopus 로고
    • Some peculiarities in the histology of intestinal polyps
    • B.C. Morson Some peculiarities in the histology of intestinal polyps Dis Colon Rectum 5 1962 337-344
    • (1962) Dis. Colon Rectum , vol.5 , pp. 337-344
    • Morson, B.C.1
  • 102
    • 0015977499 scopus 로고
    • Juvenile gastrointestinal polyposis in a female infant: Report of a case and review of the literature of a recently recognized syndrome
    • C.R. Sachatello I.L. Hahn C.B. Carrington Juvenile gastrointestinal polyposis in a female infant: Report of a case and review of the literature of a recently recognized syndrome Surgery 75 1974 107-114
    • (1974) Surgery , vol.75 , pp. 107-114
    • Sachatello, C.R.1    Hahn, I.L.2    Carrington, C.B.3
  • 104
    • 0006715891 scopus 로고
    • Polypoid adenomatosis of the entire gastrointestinal tract
    • M.M. Ravitch Polypoid adenomatosis of the entire gastrointestinal tract Ann Surg 128 1948 283-298
    • (1948) Ann. Surg. , vol.128 , pp. 283-298
    • Ravitch, M.M.1
  • 105
    • 0006658210 scopus 로고
    • Multiple polyposis in an infant of 4 months
    • H.W. LeFevre Jr T.F. Jacques Multiple polyposis in an infant of 4 months Am J Surg 81 1951 90-91
    • (1951) Am. J. Surg. , vol.81 , pp. 90-91
    • LeFevre Jr., H.W.1    Jacques, T.F.2
  • 106
    • 0014579438 scopus 로고
    • Juvenile polyps with cachexia
    • F.B. Raymann Juvenile polyps with cachexia Gastroenterology 57 1969 431
    • (1969) Gastroenterology , vol.57 , pp. 431
    • Raymann, F.B.1
  • 107
    • 0014769256 scopus 로고
    • Diffuse gastrointestinal polyposis associated with chronic blood loss, hypoproteinemia, and anasarca in an infant
    • A.M. Arbeter R.A. Courtney M.F. Gaynor Jr. Diffuse gastrointestinal polyposis associated with chronic blood loss, hypoproteinemia, and anasarca in an infant J Pediatr 76 1970 609-611
    • (1970) J. Pediatr. , vol.76 , pp. 609-611
    • Arbeter, A.M.1    Courtney, R.A.2    Gaynor Jr., M.F.3
  • 108
    • 0015056612 scopus 로고
    • Fatal juvenile polyposis of infancy
    • R.T. Soper T.H. Kent Fatal juvenile polyposis of infancy Surgery 69 1971 692-698
    • (1971) Surgery , vol.69 , pp. 692-698
    • Soper, R.T.1    Kent, T.H.2
  • 109
    • 0000347602 scopus 로고
    • Juvenile polyps of the colon and rectum
    • S.I. Roth E.B. Helwig Juvenile polyps of the colon and rectum Cancer 16 1963 468-479
    • (1963) Cancer , vol.16 , pp. 468-479
    • Roth, S.I.1    Helwig, E.B.2
  • 110
    • 0019522894 scopus 로고
    • Diffuse juvenile polyposis of the colon: A premalignant condition?
    • K. Reed P.C. Vose Diffuse juvenile polyposis of the colon: A premalignant condition? Dis Colon Rectum 24 1981 205-210
    • (1981) Dis. Colon Rectum , vol.24 , pp. 205-210
    • Reed, K.1    Vose, P.C.2
  • 113
    • 0020084164 scopus 로고
    • Familial juvenile polyposis coli: A clinical and pathologic study of a large kindred
    • H.W. Grotsky R.R. Rickert W.D. Smith J.F. Newsome Familial juvenile polyposis coli: A clinical and pathologic study of a large kindred Gastroenterology 82 1982 494-501
    • (1982) Gastroenterology , vol.82 , pp. 494-501
    • Grotsky, H.W.1    Rickert, R.R.2    Smith, W.D.3    Newsome, J.F.4
  • 115
    • 0000919530 scopus 로고
    • Rectal and colonic polyps occurring in young people
    • A.M. Gelb S. Minkowitz M. Tresser Rectal and colonic polyps occurring in young people NY State J Med 62 1962 513-518
    • (1962) NY State J. Med. , vol.62 , pp. 513-518
    • Gelb, A.M.1    Minkowitz, S.2    Tresser, M.3
  • 116
    • 0014892815 scopus 로고
    • Familial juvenile polyposis of the colon
    • R.C. Haggitt J.A. Pitcock Familial juvenile polyposis of the colon Cancer 26 1970 1232-1238
    • (1970) Cancer , vol.26 , pp. 1232-1238
    • Haggitt, R.C.1    Pitcock, J.A.2
  • 117
    • 0015124173 scopus 로고
    • Mixed juvenile, adenomatous and intermediate polyposis coli: Report of a case
    • R.O. Kaschula Mixed juvenile, adenomatous and intermediate polyposis coli: Report of a case Dis Colon Rectum 14 1971 368-374
    • (1971) Dis. Colon Rectum , vol.14 , pp. 368-374
    • Kaschula, R.O.1
  • 120
    • 0018775720 scopus 로고
    • Pathogenesis of colonic polyps in multiple juvenile polyposis
    • Z.D. Goodman J.H. Yardley F.D. Milligan Pathogenesis of colonic polyps in multiple juvenile polyposis Cancer 43 1979 1906-1913
    • (1979) Cancer , vol.43 , pp. 1906-1913
    • Goodman, Z.D.1    Yardley, J.H.2    Milligan, F.D.3
  • 122
  • 123
    • 0019969230 scopus 로고
    • A solitary juvenile polyp with hyperplastic and adenomatous glands
    • C.J. Friedman R.E. Fechner A solitary juvenile polyp with hyperplastic and adenomatous glands Dig Dis Sci 27 1982 946-948
    • (1982) Dig. Dis. Sci. , vol.27 , pp. 946-948
    • Friedman, C.J.1    Fechner, R.E.2
  • 124
    • 0020084757 scopus 로고
    • Unusual adenomatous polyps in juvenile polyposis coli
    • S.E. Mills R.E. Fechner Unusual adenomatous polyps in juvenile polyposis coli Am J Surg Pathol 6 1982 177-183
    • (1982) Am. J. Surg. Pathol. , vol.6 , pp. 177-183
    • Mills, S.E.1    Fechner, R.E.2
  • 125
    • 0020036623 scopus 로고
    • Familial juvenile colonic polyposis with associated colon cancer
    • P. Rozen M. Baratz Familial juvenile colonic polyposis with associated colon cancer Cancer 49 1982 1500-1503
    • (1982) Cancer , vol.49 , pp. 1500-1503
    • Rozen, P.1    Baratz, M.2
  • 126
    • 0021261655 scopus 로고
    • Familial juvenile polyposis coli: Increased risk of colorectal cancer
    • H.J. Järvinen K.O. Franssila Familial juvenile polyposis coli: Increased risk of colorectal cancer Gut 25 1984 792-800
    • (1984) Gut , vol.25 , pp. 792-800
    • Järvinen, H.J.1    Franssila, K.O.2
  • 127
    • 0023853611 scopus 로고
    • A case of generalized juvenile gastrointestinal polyposis associated with gastric carcinoma
    • T. Yoshida Y. Haraguchi A. Tanaka A. Higa Y. Daimon Y. Mizuta et al. A case of generalized juvenile gastrointestinal polyposis associated with gastric carcinoma Endoscopy 20 1988 33-35
    • (1988) Endoscopy , vol.20 , pp. 33-35
    • Yoshida, T.1    Haraguchi, Y.2    Tanaka, A.3    Higa, A.4    Daimon, Y.5    Mizuta, Y.6
  • 132
    • 0027255429 scopus 로고
    • Malignant risk in juvenile polyposis coli: Increasing documentation in the pediatric age group
    • K.F. Heiss D. Schaffner R.R. Ricketts K. Winn Malignant risk in juvenile polyposis coli: Increasing documentation in the pediatric age group J Pediatr Surg 28 1993 1188-1193
    • (1993) J. Pediatr. Surg. , vol.28 , pp. 1188-1193
    • Heiss, K.F.1    Schaffner, D.2    Ricketts, R.R.3    Winn, K.4
  • 133
    • 0021195925 scopus 로고
    • Juvenile polyposis of the colon with atypical adenomatous changes and carcinoma in situ
    • G. Ramaswamy A.A. Elhosseiny V. Tchertkoff Juvenile polyposis of the colon with atypical adenomatous changes and carcinoma in situ Dis Colon Rectum 27 1984 393-398
    • (1984) Dis. Colon Rectum , vol.27 , pp. 393-398
    • Ramaswamy, G.1    Elhosseiny, A.A.2    Tchertkoff, V.3
  • 135
    • 0013934320 scopus 로고
    • Juvenile polyposis coli: A report of three patients in three generations of one family
    • P.C. Smilow C.A. Pryor N.W. Swinton Juvenile polyposis coli: A report of three patients in three generations of one family Dis Colon Rectum 9 1966 248-254
    • (1966) Dis. Colon Rectum , vol.9 , pp. 248-254
    • Smilow, P.C.1    Pryor, C.A.2    Swinton, N.W.3
  • 137
    • 0031673225 scopus 로고    scopus 로고
    • The risk of gastrointestinal carcinoma in familial juvenile polyposis
    • J.R. Howe F.A. Mitros R.W. Summers The risk of gastrointestinal carcinoma in familial juvenile polyposis Ann Surg Oncol 5 1998 751-756
    • (1998) Ann. Surg. Oncol. , vol.5 , pp. 751-756
    • Howe, J.R.1    Mitros, F.A.2    Summers, R.W.3
  • 138
    • 0024853253 scopus 로고
    • Inherited disorders associated with colorectal cancer
    • V. Murday J. Slack Inherited disorders associated with colorectal cancer Cancer Surv 8 1989 139-157
    • (1989) Cancer Surv. , vol.8 , pp. 139-157
    • Murday, V.1    Slack, J.2
  • 145
    • 0031971514 scopus 로고    scopus 로고
    • Molecular classification of the inherited hamartoma polyposis syndromes: Clearing the muddied waters
    • C. Eng H. Ji Molecular classification of the inherited hamartoma polyposis syndromes: Clearing the muddied waters Am J Hum Genet 62 1998 1020-1022
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1020-1022
    • Eng, C.1    Ji, H.2
  • 147
    • 15444339425 scopus 로고    scopus 로고
    • Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome
    • D.J. Marsh S. Roth K.L. Lunetta A. Hemminki P.L.M. Dahia P. Sistonen et al. Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome Cancer Res 57 1997 5017-5021
    • (1997) Cancer Res. , vol.57 , pp. 5017-5021
    • Marsh, D.J.1    Roth, S.2    Lunetta, K.L.3    Hemminki, A.4    Dahia, P.L.M.5    Sistonen, P.6
  • 150
    • 7844251203 scopus 로고    scopus 로고
    • Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases
    • R. Houlston S. Bevan A. Williams J. Young M. Dunlop P. Rozen et al. Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases Hum Mol Genet 7 1998 1907-1912
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1907-1912
    • Houlston, R.1    Bevan, S.2    Williams, A.3    Young, J.4    Dunlop, M.5    Rozen, P.6
  • 153
    • 0034059424 scopus 로고    scopus 로고
    • Germline mutations of the dpc4 gene in Korean juvenile polyposis patients
    • I.J. Kim J.L. Ku K.A. Yoon S.C. Heo S.Y. Jeong H.S. Choi et al. Germline mutations of the dpc4 gene in Korean juvenile polyposis patients Int J Cancer 86 2000 529-532
    • (2000) Int. J. Cancer , vol.86 , pp. 529-532
    • Kim, I.J.1    Ku, J.L.2    Yoon, K.A.3    Heo, S.C.4    Jeong, S.Y.5    Choi, H.S.6
  • 155
    • 3142746721 scopus 로고    scopus 로고
    • The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations
    • J.R. Howe M.G. Sayed A.F. Ahmed J. Ringold J. Larsen-Haidle A. Merg et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations J Med Genet 41 2004 484-491
    • (2004) J. Med. Genet. , vol.41 , pp. 484-491
    • Howe, J.R.1    Sayed, M.G.2    Ahmed, A.F.3    Ringold, J.4    Larsen-Haidle, J.5    Merg, A.6
  • 158
    • 0031438047 scopus 로고    scopus 로고
    • TGF-β signaling from cell membrane to nucleus through SMAD proteins
    • C.-H. Heldin K. Miyazono P. Ten Dijke TGF-β signaling from cell membrane to nucleus through SMAD proteins Nature 390 1997 465-471
    • (1997) Nature , vol.390 , pp. 465-471
    • Heldin, C.-H.1    Miyazono, K.2    Ten Dijke, P.3
  • 159
    • 0032775701 scopus 로고    scopus 로고
    • Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome
    • S. Bevan K. Woodford-Richens P. Rozen C. Eng J. Young M. Dunlop et al. Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome Gut 45 1999 406-408
    • (1999) Gut , vol.45 , pp. 406-408
    • Bevan, S.1    Woodford-Richens, K.2    Rozen, P.3    Eng, C.4    Young, J.5    Dunlop, M.6
  • 160
    • 0034972978 scopus 로고    scopus 로고
    • Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis
    • J.R. Howe J.L. Bair M.G. Sayed M.E. Anderson F.A. Mitros G.M. Petersen et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis Nat Genet 28 2001 184-187
    • (2001) Nat. Genet. , vol.28 , pp. 184-187
    • Howe, J.R.1    Bair, J.L.2    Sayed, M.G.3    Anderson, M.E.4    Mitros, F.A.5    Petersen, G.M.6
  • 161
    • 0034829630 scopus 로고    scopus 로고
    • Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes
    • X.P. Zhou K. Woodford-Richens R. Lehtonen K. Kurose M. Aldred H. Hampel et al. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes Am J Hum Genet 69 2001 704-711
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 704-711
    • Zhou, X.P.1    Woodford-Richens, K.2    Lehtonen, R.3    Kurose, K.4    Aldred, M.5    Hampel, H.6
  • 162
    • 0036664427 scopus 로고    scopus 로고
    • Juvenile polyposis: Massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers
    • W. Friedl S. Uhlhaas K. Schulman M. Stolte S. Loff W. Back et al. Juvenile polyposis: Massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers Hum Genet 111 2002 108-111
    • (2002) Hum. Genet. , vol.111 , pp. 108-111
    • Friedl, W.1    Uhlhaas, S.2    Schulman, K.3    Stolte, M.4    Loff, S.5    Back, W.6
  • 163
    • 0036965929 scopus 로고    scopus 로고
    • TGF-b and the Smad signal transduction pathway
    • A. Mehra J.L. Wrana TGF-b and the Smad signal transduction pathway Biochem Cell Biol 80 2002 605-622
    • (2002) Biochem. Cell. Biol. , vol.80 , pp. 605-622
    • Mehra, A.1    Wrana, J.L.2
  • 164
    • 0031105160 scopus 로고    scopus 로고
    • Bone morphogenetic proteins: An unconventional approach to isolation of first mammalian morphogens
    • A.H. Reddi Bone morphogenetic proteins: An unconventional approach to isolation of first mammalian morphogens Cytokine Growth Factor Rev 8 1997 11-20
    • (1997) Cytokine Growth Factor Rev. , vol.8 , pp. 11-20
    • Reddi, A.H.1
  • 166
    • 0032816499 scopus 로고    scopus 로고
    • Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis
    • J.R. Howe J.C. Ringold J. Hughes R.W. Summers Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis Surgery 126 1999 162-170
    • (1999) Surgery , vol.126 , pp. 162-170
    • Howe, J.R.1    Ringold, J.C.2    Hughes, J.3    Summers, R.W.4
  • 167
    • 0001182707 scopus 로고
    • Cowden's disease: A possible new symptom complex with multiple system involvement
    • K.M. Lloyd 2nd M. Dennis Cowden's disease: A possible new symptom complex with multiple system involvement Ann Intern Med 58 1963 136-142
    • (1963) Ann. Intern. Med. , vol.58 , pp. 136-142
    • Lloyd II, K.M.1    Dennis, M.2
  • 169
    • 0023755640 scopus 로고
    • Recurrent Lhermitte-Duclos disease in a child: Case report
    • S.R. Marano P.C. Johnson R.F. Spetzler Recurrent Lhermitte-Duclos disease in a child: Case report J Neurosurg 69 1988 599-603
    • (1988) J. Neurosurg. , vol.69 , pp. 599-603
    • Marano, S.R.1    Johnson, P.C.2    Spetzler, R.F.3
  • 170
    • 0023841434 scopus 로고
    • Clinical and radiological aspects of dysplastic gangliocytoma (Lhermitte-Duclos disease): A report of two cases with review of the literature
    • G. Milbouw J.D. Born D. Martin J. Collignon P. Hans M. Reznik et al. Clinical and radiological aspects of dysplastic gangliocytoma (Lhermitte-Duclos disease): A report of two cases with review of the literature Neurosurgery 22 1988 124-128
    • (1988) Neurosurgery , vol.22 , pp. 124-128
    • Milbouw, G.1    Born, J.D.2    Martin, D.3    Collignon, J.4    Hans, P.5    Reznik, M.6
  • 172
    • 0028322163 scopus 로고
    • Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease)
    • J. Rimbau F. Isamat Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease) J Neurooncol 18 1994 191-197
    • (1994) J. Neurooncol. , vol.18 , pp. 191-197
    • Rimbau, J.1    Isamat, F.2
  • 174
    • 0028306797 scopus 로고
    • Lhermitte-Duclos disease and Cowden's syndrome in an adolescent patient: Case report
    • G.B. Wells T.M. Lasner D.M. Yousem E.L. Zager Lhermitte-Duclos disease and Cowden's syndrome in an adolescent patient: Case report J Neurosurg 81 1994 133-136
    • (1994) J. Neurosurg. , vol.81 , pp. 133-136
    • Wells, G.B.1    Lasner, T.M.2    Yousem, D.M.3    Zager, E.L.4
  • 175
    • 0029383633 scopus 로고
    • Lhermitte-Duclos disease associated with Cowden's disease
    • D.W. Thomas M.A. Lewis Lhermitte-Duclos disease associated with Cowden's disease Int J Oral Maxillofac Surg 24 1995 369-371
    • (1995) Int. J. Oral Maxillofac. Surg. , vol.24 , pp. 369-371
    • Thomas, D.W.1    Lewis, M.A.2
  • 181
    • 0021688438 scopus 로고
    • Cowden's disease: Analysis of fourteen new cases
    • T.M. Starink Cowden's disease: Analysis of fourteen new cases J Am Acad Dermatol 11 1984 1127-1141
    • (1984) J. Am. Acad. Dermatol. , vol.11 , pp. 1127-1141
    • Starink, T.M.1
  • 183
    • 0019721140 scopus 로고
    • Cowden's disease (multiple hamartoma syndrome)
    • H.N. Thyresson J.A. Doyle Cowden's disease (multiple hamartoma syndrome) Mayo Clin Proc 56 1981 179-184
    • (1981) Mayo Clin. Proc. , vol.56 , pp. 179-184
    • Thyresson, H.N.1    Doyle, J.A.2
  • 184
    • 0034973917 scopus 로고    scopus 로고
    • Papillary carcinoma occurring within an adenomatous goiter of the thyroid gland in Cowden's disease
    • K. Kameyama H. Takami K. Miyajima T. Mimura Y. Hosoda K. Ito Papillary carcinoma occurring within an adenomatous goiter of the thyroid gland in Cowden's disease Endocr Pathol 12 2001 73-76
    • (2001) Endocr. Pathol. , vol.12 , pp. 73-76
    • Kameyama, K.1    Takami, H.2    Miyajima, K.3    Mimura, T.4    Hosoda, Y.5    Ito, K.6
  • 187
    • 0022642837 scopus 로고
    • Ganglioneuromatosis of the colon and extensive glycogenic acanthosis in Cowden's disease
    • B.A. Lashner R.H. Riddell C.S. Winans Ganglioneuromatosis of the colon and extensive glycogenic acanthosis in Cowden's disease Dig Dis Sci 31 1986 213-216
    • (1986) Dig. Dis. Sci. , vol.31 , pp. 213-216
    • Lashner, B.A.1    Riddell, R.H.2    Winans, C.S.3
  • 189
    • 0021707317 scopus 로고
    • Colorectal polyps in Cowden's disease (multiple hamartoma syndrome)
    • G.J. Carlson S. Nivatvongs D.C. Snover Colorectal polyps in Cowden's disease (multiple hamartoma syndrome) Am J Surg Pathol 8 1984 763-770
    • (1984) Am. J. Surg. Pathol. , vol.8 , pp. 763-770
    • Carlson, G.J.1    Nivatvongs, S.2    Snover, D.C.3
  • 190
    • 0018948445 scopus 로고
    • Radiological findings in multiple hamartoma syndrome (Cowden disease): A report of three cases
    • H. Hauser B. Ody O. Plojoux P. Wettstein Radiological findings in multiple hamartoma syndrome (Cowden disease): A report of three cases Radiology 137 1980 317-323
    • (1980) Radiology , vol.137 , pp. 317-323
    • Hauser, H.1    Ody, B.2    Plojoux, O.3    Wettstein, P.4
  • 194
    • 0019002191 scopus 로고
    • Multiple hamartoma syndrome: A report of a new case with associated carcinoma of the uterine cervix and angioid streaks of the eyes
    • B.S. Allen M.H. Fitch J.G. Smith Jr. Multiple hamartoma syndrome: A report of a new case with associated carcinoma of the uterine cervix and angioid streaks of the eyes J Am Acad Dermatol 2 1980 303-308
    • (1980) J. Am. Acad. Dermatol. , vol.2 , pp. 303-308
    • Allen, B.S.1    Fitch, M.H.2    Smith Jr., J.G.3
  • 195
    • 0021368178 scopus 로고
    • Disseminated hereditary gastrointestinal polyposis with orocutaneous hamartomatosis (Cowden's disease)
    • M. Gorensek I. Matko A. Skralovnik M. Rode J. Satler A. Jutersek Disseminated hereditary gastrointestinal polyposis with orocutaneous hamartomatosis (Cowden's disease) Endoscopy 16 1984 59-63
    • (1984) Endoscopy , vol.16 , pp. 59-63
    • Gorensek, M.1    Matko, I.2    Skralovnik, A.3    Rode, M.4    Satler, J.5    Jutersek, A.6
  • 196
    • 0022997995 scopus 로고
    • Cowden disease. A hereditary polyposis syndrome diagnosable by mucocutaneous inspection
    • A.R. Hover T. Cawthern W. McDanial Cowden disease. A hereditary polyposis syndrome diagnosable by mucocutaneous inspection J Clin Gastroenterol 8 1986 576-579
    • (1986) J. Clin. Gastroenterol. , vol.8 , pp. 576-579
    • Hover, A.R.1    Cawthern, T.2    McDanial, W.3
  • 197
    • 0033738748 scopus 로고    scopus 로고
    • Will the real Cowden syndrome please stand up: Revised diagnostic criteria
    • C. Eng Will the real Cowden syndrome please stand up: Revised diagnostic criteria J Med Genet 37 2000 828-830
    • (2000) J. Med. Genet. , vol.37 , pp. 828-830
    • Eng, C.1
  • 199
    • 0014589153 scopus 로고
    • Lhermitte-Duclos disease (granule cell hypertrophy of the cerebellum) pathological analysis of the first familial cases
    • M. Ambler S. Pogacar R. Sidman Lhermitte-Duclos disease (granule cell hypertrophy of the cerebellum) pathological analysis of the first familial cases J Neuropathol Exp Neurol 28 1969 622-647
    • (1969) J. Neuropathol. Exp. Neurol. , vol.28 , pp. 622-647
    • Ambler, M.1    Pogacar, S.2    Sidman, R.3
  • 201
    • 0026539260 scopus 로고
    • Recurrent Lhermitte-Duclos disease: Report of two cases and association with Cowden's disease
    • D.W. Williams 3rd A.D. Elster L.E. Ginsberg C. Stanton Recurrent Lhermitte-Duclos disease: Report of two cases and association with Cowden's disease AJNR Am J Neuroradiol 13 1992 287-290
    • (1992) AJNR Am. J. Neuroradiol. , vol.13 , pp. 287-290
    • Williams III, D.W.1    Elster, A.D.2    Ginsberg, L.E.3    Stanton, C.4
  • 202
    • 0028228722 scopus 로고
    • Cowden syndrome and Lhermitte-Duclos disease in a family: A single genetic syndrome with pleiotropy?
    • C. Eng V. Murday S. Seal S. Mohammed S.V. Hodgson M.A. Chaudary et al. Cowden syndrome and Lhermitte-Duclos disease in a family: A single genetic syndrome with pleiotropy? J Med Genet 31 1994 458-461
    • (1994) J. Med. Genet. , vol.31 , pp. 458-461
    • Eng, C.1    Murday, V.2    Seal, S.3    Mohammed, S.4    Hodgson, S.V.5    Chaudary, M.A.6
  • 203
    • 0033953942 scopus 로고    scopus 로고
    • Cowden disease and Lhermitte-Duclos disease: Characterization of a new phakomatosis
    • S. Robinson A.R. Cohen Cowden disease and Lhermitte-Duclos disease: Characterization of a new phakomatosis Neurosurgery 46 2000 371-383
    • (2000) Neurosurgery , vol.46 , pp. 371-383
    • Robinson, S.1    Cohen, A.R.2
  • 207
    • 0020584790 scopus 로고
    • Cowden's disease (multiple hamartoma and neoplasia syndrome): A case report and review of the English literature
    • O.S. Salem W.D. Steck Cowden's disease (multiple hamartoma and neoplasia syndrome): A case report and review of the English literature J Am Acad Dermatol 8 1983 686-696
    • (1983) J. Am. Acad. Dermatol. , vol.8 , pp. 686-696
    • Salem, O.S.1    Steck, W.D.2
  • 208
    • 0031001041 scopus 로고    scopus 로고
    • TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta
    • D.M. Li H. Sun TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta Cancer Res 57 1997 2124-2129
    • (1997) Cancer Res. , vol.57 , pp. 2124-2129
    • Li, D.M.1    Sun, H.2
  • 209
    • 0030936323 scopus 로고    scopus 로고
    • PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer
    • J. Li C. Yen D. Liaw K. Podsypanina S. Bose S.I. Wang et al. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer Science 275 1997 1943-1947
    • (1997) Science , vol.275 , pp. 1943-1947
    • Li, J.1    Yen, C.2    Liaw, D.3    Podsypanina, K.4    Bose, S.5    Wang, S.I.6
  • 210
    • 17144436629 scopus 로고    scopus 로고
    • Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers
    • P.A. Steck M.A. Pershouse S.A. Jasser W.K. Yung H. Lin A.H. Ligon et al. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers Nat Genet 15 1997 356-362
    • (1997) Nat. Genet. , vol.15 , pp. 356-362
    • Steck, P.A.1    Pershouse, M.A.2    Jasser, S.A.3    Yung, W.K.4    Lin, H.5    Ligon, A.H.6
  • 211
    • 0031004088 scopus 로고    scopus 로고
    • Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
    • D. Liaw D.J. Marsh J. Li P.L. Dahia S.I. Wang Z. Zheng et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome Nat Genet 16 1997 64-67
    • (1997) Nat. Genet. , vol.16 , pp. 64-67
    • Liaw, D.1    Marsh, D.J.2    Li, J.3    Dahia, P.L.4    Wang, S.I.5    Zheng, Z.6
  • 215
    • 0035869175 scopus 로고    scopus 로고
    • PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model
    • L.P. Weng W.M. Smith J.L. Brown C. Eng PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model Hum Mol Genet 10 2001 605-616
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 605-616
    • Weng, L.P.1    Smith, W.M.2    Brown, J.L.3    Eng, C.4
  • 216
    • 6844252284 scopus 로고    scopus 로고
    • Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation
    • D.J. Marsh V. Coulon K.L. Lunetta P. Rocca-Serra P.L. Dahia Z. Zheng et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation Hum Mol Genet 7 1998 507-515
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 507-515
    • Marsh, D.J.1    Coulon, V.2    Lunetta, K.L.3    Rocca-Serra, P.4    Dahia, P.L.5    Zheng, Z.6
  • 217
    • 0041742215 scopus 로고    scopus 로고
    • Germline PTEN promoter mutations and deletions in Cowden/ Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway
    • X.P. Zhou K.A. Waite R. Pilarski H. Hampel M.J. Fernandez C. Bos Germline et al. PTEN promoter mutations and deletions in Cowden/ Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway Am J Hum Genet 73 2003 404-411
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 404-411
    • Zhou, X.P.1    Waite, K.A.2    Pilarski, R.3    Hampel, H.4    Fernandez, M.J.5    Bos, C.6
  • 218
    • 26044438766 scopus 로고    scopus 로고
    • Cowden syndrome
    • C. Eng Cowden syndrome J Genet Counsel 6 1997 181-192
    • (1997) J. Genet. Counsel , vol.6 , pp. 181-192
    • Eng, C.1
  • 219
    • 0031883606 scopus 로고    scopus 로고
    • Genetics of Cowden syndrome: Through the looking glass of oncology
    • C. Eng Genetics of Cowden syndrome: Through the looking glass of oncology Int J Oncol 12 1998 701-710
    • (1998) Int. J. Oncol. , vol.12 , pp. 701-710
    • Eng, C.1
  • 221
    • 0019195703 scopus 로고
    • Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia
    • R.H. Ruvalcaba S. Myhre D.W. Smith Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia Clin Genet 18 1980 413-416
    • (1980) Clin. Genet. , vol.18 , pp. 413-416
    • Ruvalcaba, R.H.1    Myhre, S.2    Smith, D.W.3
  • 222
    • 0019940363 scopus 로고
    • Male to male transmission of cerebral gigantism
    • F. Halal Male to male transmission of cerebral gigantism Am J Med Genet 12 1982 411-419
    • (1982) Am. J. Med. Genet. , vol.12 , pp. 411-419
    • Halal, F.1
  • 223
    • 0020760607 scopus 로고
    • Cerebral gigantism, intestinal polyposis, and pigmentary spotting of the genitalia
    • F. Halal Cerebral gigantism, intestinal polyposis, and pigmentary spotting of the genitalia Am J Med Genet 15 1983 161
    • (1983) Am. J. Med. Genet. , vol.15 , pp. 161
    • Halal, F.1
  • 224
    • 0025129182 scopus 로고
    • Bannayan-Riley-Ruvalcaba syndrome: Renaming three formerly recognized syndromes as one etiologic entity
    • M.M. Cohen Jr. Bannayan-Riley-Ruvalcaba syndrome: Renaming three formerly recognized syndromes as one etiologic entity Am J Med Genet 35 1990 291-292
    • (1990) Am. J. Med. Genet. , vol.35 , pp. 291-292
    • Cohen Jr., M.M.1
  • 225
    • 0020595287 scopus 로고
    • Ruvalcaba-Myhre-Smith syndrome: A case with probable autosomal-dominant inheritance and additional manifestations
    • J.H. DiLiberti R.G. Weleber S. Budden Ruvalcaba-Myhre-Smith syndrome: A case with probable autosomal-dominant inheritance and additional manifestations Am J Med Genet 15 1983 491-495
    • (1983) Am. J. Med. Genet. , vol.15 , pp. 491-495
    • DiLiberti, J.H.1    Weleber, R.G.2    Budden, S.3
  • 226
  • 228
    • 0015094329 scopus 로고
    • Lipomatosis, angiomatosis, and macrencephalia: A previously undescribed congenital syndrome
    • G.A. Bannayan Lipomatosis, angiomatosis, and macrencephalia: A previously undescribed congenital syndrome Arch Pathol 92 1971 1-5
    • (1971) Arch. Pathol. , vol.92 , pp. 1-5
    • Bannayan, G.A.1
  • 229
    • 0017186974 scopus 로고
    • Macrocephaly with multiple lipomas and hemangiomas
    • J. Zonana D.L. Rimoin D.C. Davis Macrocephaly with multiple lipomas and hemangiomas J Pediatr 89 1976 600-603
    • (1976) J. Pediatr. , vol.89 , pp. 600-603
    • Zonana, J.1    Rimoin, D.L.2    Davis, D.C.3
  • 230
    • 0020053384 scopus 로고
    • The Bannayan syndrome: An autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors
    • M.C. Higginbottom P. Schultz The Bannayan syndrome: An autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors Pediatrics 69 1982 632-634
    • (1982) Pediatrics , vol.69 , pp. 632-634
    • Higginbottom, M.C.1    Schultz, P.2
  • 231
    • 0020084026 scopus 로고
    • Mental retardation in the Bannayan syndrome
    • R.A. Saul R.E. Stevenson R. Bley Mental retardation in the Bannayan syndrome Pediatrics 69 1982 642-644
    • (1982) Pediatrics , vol.69 , pp. 642-644
    • Saul, R.A.1    Stevenson, R.E.2    Bley, R.3
  • 233
    • 0025142455 scopus 로고
    • Bannayan-Zonana syndrome associated with lymphangiomyomatous lesions
    • J.A. Klein R.J. Barr Bannayan-Zonana syndrome associated with lymphangiomyomatous lesions Pediatr Dermatol 7 1990 48-53
    • (1990) Pediatr. Dermatol. , vol.7 , pp. 48-53
    • Klein, J.A.1    Barr, R.J.2
  • 234
    • 0001484667 scopus 로고
    • Macrocephaly, pseudopapilledema and multiple hemangiomata
    • H.D. Riley W.R. Smith Macrocephaly, pseudopapilledema and multiple hemangiomata Pediatrics 1960 293-300
    • (1960) Pediatrics , pp. 293-300
    • Riley, H.D.1    Smith, W.R.2
  • 235
    • 0022511990 scopus 로고
    • Ruvalcaba-Myhre-Smith syndrome: A new consideration in the differential diagnosis of intestinal polyposis
    • M.A. Foster R.F. Kilcoyne Ruvalcaba-Myhre-Smith syndrome: A new consideration in the differential diagnosis of intestinal polyposis Gastrointest Radiol 11 1986 349-350
    • (1986) Gastrointest. Radiol. , vol.11 , pp. 349-350
    • Foster, M.A.1    Kilcoyne, R.F.2
  • 236
    • 0022977531 scopus 로고
    • Hereditary gastrointestinal polyposis syndrome
    • R.C. Haggitt B.J. Reid Hereditary gastrointestinal polyposis syndrome Am J Surg Pathol 10 1986 871-887
    • (1986) Am. J. Surg. Pathol. , vol.10 , pp. 871-887
    • Haggitt, R.C.1    Reid, B.J.2
  • 238
    • 0031908886 scopus 로고    scopus 로고
    • Adenomatous changes in the hamartomatous polyps of Ruvalcaba-Myhre-Smith syndrome
    • W.J. Coyle M.T. Ryan M.J. Nowicki Adenomatous changes in the hamartomatous polyps of Ruvalcaba-Myhre-Smith syndrome J Clin Gastroenterol 26 1998 85-87
    • (1998) J. Clin. Gastroenterol. , vol.26 , pp. 85-87
    • Coyle, W.J.1    Ryan, M.T.2    Nowicki, M.J.3
  • 242
    • 0032853452 scopus 로고    scopus 로고
    • PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
    • D.J. Marsh J.B. Kum K.L. Lunetta M.J. Bennett R.J. Gorlin S.F. Ahmed et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome Hum Mol Genet 8 1999 1461-1472
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1461-1472
    • Marsh, D.J.1    Kum, J.B.2    Lunetta, K.L.3    Bennett, M.J.4    Gorlin, R.J.5    Ahmed, S.F.6
  • 243
    • 0035138678 scopus 로고    scopus 로고
    • The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome
    • M.A. Parisi M.B. Dinulos K.A. Leppig V.P. Sybert C. Eng L. Hudgins The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome J Med Genet 38 2001 52-58
    • (2001) J. Med. Genet. , vol.38 , pp. 52-58
    • Parisi, M.A.1    Dinulos, M.B.2    Leppig, K.A.3    Sybert, V.P.4    Eng, C.5    Hudgins, L.6
  • 244
    • 0036821809 scopus 로고    scopus 로고
    • Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer
    • A. Figer A. Kaplan M. Frydman D. Lev J. Paswell M.Z. Papa et al. Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer Clin Genet 62 2002 298-302
    • (2002) Clin. Genet. , vol.62 , pp. 298-302
    • Figer, A.1    Kaplan, A.2    Frydman, M.3    Lev, D.4    Paswell, J.5    Papa, M.Z.6
  • 245
    • 0000043603 scopus 로고
    • A very remarkable case of familial polyposis of mucous membrane of intestinal tract and accompanied by peculiar pigmentations of skin and mucous membrane
    • J.L. Peutz A very remarkable case of familial polyposis of mucous membrane of intestinal tract and accompanied by peculiar pigmentations of skin and mucous membrane Ned Tijdschr Geneeskd 10 1921 134-146
    • (1921) Ned Tijdschr Geneeskd , vol.10 , pp. 134-146
    • Peutz, J.L.1
  • 246
    • 0000152018 scopus 로고
    • Generalized intestinal polyposis and melanin spots of oral mucosa, lips, and digits
    • 993-1005
    • H. Jeghers V.A. McKusick K.H. Katz Generalized intestinal polyposis and melanin spots of oral mucosa, lips, and digits N Engl J Med 241 1949 993-1005 1031-1036
    • (1949) N. Engl. J. Med. , vol.241 , pp. 1031-1036
    • Jeghers, H.1    McKusick, V.A.2    Katz, K.H.3
  • 247
    • 0023152311 scopus 로고
    • Genodermatoses with malignant potential
    • S.B. Mallory D.Bt. Stough Genodermatoses with malignant potential Dermatol Clin 5 1987 221-230
    • (1987) Dermatol. Clin. , vol.5 , pp. 221-230
    • Mallory, S.B.1    Stough, D.Bt.2
  • 248
    • 0001535794 scopus 로고
    • Intestinal polyposis associated with mucocutaneous melanin pigmentation (Peutz-Jeghers syndrome)
    • L.G. Bartholomew D.C. Dahlin J.M. Waugh Intestinal polyposis associated with mucocutaneous melanin pigmentation (Peutz-Jeghers syndrome) Gastroenterology 32 1957 434-451
    • (1957) Gastroenterology , vol.32 , pp. 434-451
    • Bartholomew, L.G.1    Dahlin, D.C.2    Waugh, J.M.3
  • 251
    • 0024350881 scopus 로고
    • Cancer and the Peutz-Jeghers syndrome
    • A.D. Spigelman V. Murday R.K. Phillips Cancer and the Peutz-Jeghers syndrome Gut 30 1989 1588-1590
    • (1989) Gut , vol.30 , pp. 1588-1590
    • Spigelman, A.D.1    Murday, V.2    Phillips, R.K.3
  • 253
    • 0042622241 scopus 로고    scopus 로고
    • Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome
    • W. Lim N. Hearle B. Shah V. Murday S.V. Hodgson A. Lucassen et al. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome Br J Cancer 89 2003 308-313
    • (2003) Br. J. Cancer , vol.89 , pp. 308-313
    • Lim, W.1    Hearle, N.2    Shah, B.3    Murday, V.4    Hodgson, S.V.5    Lucassen, A.6
  • 255
    • 0033053940 scopus 로고    scopus 로고
    • The molecular basis and clinical aspects of Peutz-Jeghers syndrome
    • A. Hemminki The molecular basis and clinical aspects of Peutz-Jeghers syndrome Cell Mol Life Sci 55 1999 735-750
    • (1999) Cell. Mol. Life Sci. , vol.55 , pp. 735-750
    • Hemminki, A.1
  • 257
    • 0031012344 scopus 로고    scopus 로고
    • Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis
    • A. Hemminki I. Tomlinson D. Markie H. Järvinen P. Sistonen A.M. Bjorkqvist et al. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis Nat Genet 15 1997 87-90
    • (1997) Nat. Genet. , vol.15 , pp. 87-90
    • Hemminki, A.1    Tomlinson, I.2    Markie, D.3    Järvinen, H.4    Sistonen, P.5    Bjorkqvist, A.M.6
  • 259
    • 17344365130 scopus 로고    scopus 로고
    • Peutz-Jeghers syndrome: Confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4
    • H. Mehenni J.-L. Blouin U. Radhakrishna S.S. Bhardwaj K. Bhardwaj V.B. Dixit et al. Peutz-Jeghers syndrome: Confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4 Am J Hum Genet 61 1997 1327-1334
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 1327-1334
    • Mehenni, H.1    Blouin, J.-L.2    Radhakrishna, U.3    Bhardwaj, S.S.4    Bhardwaj, K.5    Dixit, V.B.6
  • 261
    • 0031974516 scopus 로고    scopus 로고
    • Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase
    • D.E. Jenne H. Reimann J.-I. Nezu W. Friedel S. Loff J. Jeschke et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase Nat Genet 18 1998 38-43
    • (1998) Nat. Genet. , vol.18 , pp. 38-43
    • Jenne, D.E.1    Reimann, H.2    Nezu, J.-I.3    Friedel, W.4    Loff, S.5    Jeschke, J.6
  • 263
    • 0032876595 scopus 로고    scopus 로고
    • STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients
    • C.Y. Jiang S. Esufali T. Berk S. Gallinger Z. Cohen M. Tobi et al. STK11/ LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients Clin Genet 56 1999 136-141
    • (1999) Clin. Genet. , vol.56 , pp. 136-141
    • Jiang, C.Y.1    Esufali, S.2    Berk, T.3    Gallinger, S.4    Cohen, Z.5    Tobi, M.6
  • 264
    • 0031662147 scopus 로고    scopus 로고
    • Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
    • H. Nakagawa K. Koyama Y. Miyoshi H. Ando S. Baba M. Watatani et al. Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome Hum Genet 103 1998 168-172
    • (1998) Hum. Genet. , vol.103 , pp. 168-172
    • Nakagawa, H.1    Koyama, K.2    Miyoshi, Y.3    Ando, H.4    Baba, S.5    Watatani, M.6
  • 265
    • 0033692749 scopus 로고    scopus 로고
    • Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome
    • M. Miyaki T. Iijima K. Hosono R. Ishii M. Yasuno T. Mori et al. Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome Cancer Res 60 2000 6311-6313
    • (2000) Cancer Res. , vol.60 , pp. 6311-6313
    • Miyaki, M.1    Iijima, T.2    Hosono, K.3    Ishii, R.4    Yasuno, M.5    Mori, T.6
  • 269
    • 18344405643 scopus 로고    scopus 로고
    • Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients
    • J. Boudeau A. Kieloch D.R. Alessi A. Stella G. Guanti N. Resta Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients Hum Mutat 21 2003 172
    • (2003) Hum. Mutat. , vol.21 , pp. 172
    • Boudeau, J.1    Kieloch, A.2    Alessi, D.R.3    Stella, A.4    Guanti, G.5    Resta, N.6
  • 270
    • 0034610730 scopus 로고    scopus 로고
    • Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome
    • M. Esteller E. Avizienyte P.G. Corn R.A. Lothe S.B. Baylin L.A. Aaltonen et al. Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome Oncogene 19 2000 164-168
    • (2000) Oncogene , vol.19 , pp. 164-168
    • Esteller, M.1    Avizienyte, E.2    Corn, P.G.3    Lothe, R.A.4    Baylin, S.B.5    Aaltonen, L.A.6
  • 272
    • 0036801052 scopus 로고    scopus 로고
    • Guidance on large bowel surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers syndrome
    • M.G. Dunlop Guidance on large bowel surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers syndrome Gut 51 Suppl 5 2002 V21-V27
    • (2002) Gut , vol.51 , Issue.SUPPL. 5
    • Dunlop, M.G.1
  • 274
    • 0037390446 scopus 로고    scopus 로고
    • The hereditary nonpolyposis colorectal cancer syndrome: Genetics and clinical implications
    • D.C. Chung A.K. Rustgi The hereditary nonpolyposis colorectal cancer syndrome: Genetics and clinical implications Ann Intern Med 138 2003 560-570
    • (2003) Ann. Intern. Med. , vol.138 , pp. 560-570
    • Chung, D.C.1    Rustgi, A.K.2
  • 275
    • 3342929410 scopus 로고    scopus 로고
    • Genetic conditions associated with intestinal juvenile polyps
    • A. Merg J.R. Howe Genetic conditions associated with intestinal juvenile polyps Am J Med Genet 129C 2004 44-55
    • (2004) Am. J. Med. Genet. , vol.129 C , pp. 44-55
    • Merg, A.1    Howe, J.R.2
  • 276
    • 0018140493 scopus 로고
    • Cowden's disease: A cutaneous marker of breast cancer
    • M.H. Brownstein M. Wolf J.B. Bikowski Cowden's disease: A cutaneous marker of breast cancer Cancer 41 1978 2393-2398
    • (1978) Cancer , vol.41 , pp. 2393-2398
    • Brownstein, M.H.1    Wolf, M.2    Bikowski, J.B.3
  • 277
    • 0036190892 scopus 로고    scopus 로고
    • Cowden's disease: A rare cause of oral papillomatosis
    • M. Botma D.I. Russell R.A. Kell Cowden's disease: A rare cause of oral papillomatosis J Laryngol Otol 116 2002 221-223
    • (2002) J. Laryngol. Otol. , vol.116 , pp. 221-223
    • Botma, M.1    Russell, D.I.2    Kell, R.A.3
  • 279
  • 280
    • 3343025242 scopus 로고
    • Attitudes toward cancer in a "cancer family": Implications for cancer detection
    • A.J. Krush H.T. Lynch C. Magnuson Attitudes toward cancer in a "cancer family": Implications for cancer detection Am J Med Sci 249 1965 432-438
    • (1965) Am. J. Med. Sci. , vol.249 , pp. 432-438
    • Krush, A.J.1    Lynch, H.T.2    Magnuson, C.3
  • 281
    • 3342883413 scopus 로고
    • Family centered genetic counseling: Role of the physician and the medical genetics clinic
    • H.T. Lynch R.L. Tips A. Krush C. Magnuson Family centered genetic counseling: Role of the physician and the medical genetics clinic Nebr State Med J 50 1965 155-159
    • (1965) Nebr. State Med. J. , vol.50 , pp. 155-159
    • Lynch, H.T.1    Tips, R.L.2    Krush, A.3    Magnuson, C.4
  • 283
    • 0035864981 scopus 로고    scopus 로고
    • Family information service and hereditary cancer
    • H.T. Lynch Family information service and hereditary cancer Cancer 91 2001 625-628
    • (2001) Cancer , vol.91 , pp. 625-628
    • Lynch, H.T.1
  • 284
    • 0014128483 scopus 로고
    • Heredity and multiple primary malignant neoplasms: Six cancer families
    • H.T. Lynch A.J. Krush A.L. Larsen Heredity and multiple primary malignant neoplasms: Six cancer families Am J Med Sci 254 1967 322-329
    • (1967) Am. J. Med. Sci. , vol.254 , pp. 322-329
    • Lynch, H.T.1    Krush, A.J.2    Larsen, A.L.3
  • 285
    • 0017571254 scopus 로고
    • Cáncer colónico familiar sin poliposis: Enfoque clínico y anátomo-patológico. Perspectivas de estudio genético
    • C. Sarroca W.A. Ferreira R. Quadrelli Cáncer colónico familiar sin poliposis: Enfoque clínico y anátomo-patológico. Perspectivas de estudio genético Cir del Uruguay 47 1977 515-520
    • (1977) Cir Del Uruguay , vol.47 , pp. 515-520
    • Sarroca, C.1    Ferreira, W.A.2    Quadrelli, R.3
  • 286
    • 0018161249 scopus 로고
    • Minimal genetic findings and their cancer control implications: A family with the cancer family syndrome
    • H.T. Lynch P.M. Lynch R.E. Harris Minimal genetic findings and their cancer control implications: A family with the cancer family syndrome JAMA 240 1978 535-538
    • (1978) JAMA , vol.240 , pp. 535-538
    • Lynch, H.T.1    Lynch, P.M.2    Harris, R.E.3
  • 287
    • 0019056428 scopus 로고
    • Torre's syndrome as phenotypic expression of cancer family syndrome
    • R.M. Fusaro H.T. Lynch J. Pester P.M. Lynch Torre's syndrome as phenotypic expression of cancer family syndrome Arch Dermatol 116 1980 986-987
    • (1980) Arch. Dermatol. , vol.116 , pp. 986-987
    • Fusaro, R.M.1    Lynch, H.T.2    Pester, J.3    Lynch, P.M.4
  • 288
    • 0028108339 scopus 로고
    • Mutation of an mutL momologue in a Navajo family with hereditary nonpolyposis colorectal cancer
    • H.T. Lynch T. Drouhard S. Lanspa T. Smyrk P. Lynch J. Lynch et al. Mutation of an mutL momologue in a Navajo family with hereditary nonpolyposis colorectal cancer J Natl Cancer Inst 86 1994 1417-1419
    • (1994) J. Natl. Cancer Inst. , vol.86 , pp. 1417-1419
    • Lynch, H.T.1    Drouhard, T.2    Lanspa, S.3    Smyrk, T.4    Lynch, P.5    Lynch, J.6
  • 290
    • 13344283433 scopus 로고    scopus 로고
    • Genetic counseling in a Navajo hereditary nonpolyposis colorectal cancer kindred
    • H.T. Lynch T. Drouhard H.F. Vasen J. Cavalieri J. Lynch S. Nord et al. Genetic counseling in a Navajo hereditary nonpolyposis colorectal cancer kindred Cancer 77 1996 30-35
    • (1996) Cancer , vol.77 , pp. 30-35
    • Lynch, H.T.1    Drouhard, T.2    Vasen, H.F.3    Cavalieri, J.4    Lynch, J.5    Nord, S.6
  • 291
    • 0020645866 scopus 로고
    • Tritiated thymidine (phi p, phi h) labeling distribution as a marker for hereditary predisposition to colon cancer
    • M. Lipkin W.E. Blattner J.F. Fraumeni Jr H.T. Lynch E. Deschner S. Winawer Tritiated thymidine (phi p, phi h) labeling distribution as a marker for hereditary predisposition to colon cancer Cancer Res 43 1983 1899-1904
    • (1983) Cancer Res. , vol.43 , pp. 1899-1904
    • Lipkin, M.1    Blattner, W.E.2    Fraumeni Jr., J.F.3    Lynch, H.T.4    Deschner, E.5    Winawer, S.6
  • 292
    • 0021328985 scopus 로고
    • Familial colonic cancer without antecedent polyposis
    • C.R. Boland F.J. Troncale Familial colonic cancer without antecedent polyposis Ann Intern Med 100 1984 700-701
    • (1984) Ann. Intern. Med. , vol.100 , pp. 700-701
    • Boland, C.R.1    Troncale, F.J.2
  • 295
    • 0007844006 scopus 로고
    • Familial breast cancer, cancer family syndromes, and predisposition to breast neoplasms
    • K. Bland E.M. Copeland, editors. W.B. Saunders Philadelphia
    • H.T. Lynch J. Marcus P. Watson J. Lynch Familial breast cancer, cancer family syndromes, and predisposition to breast neoplasms In: K. Bland E.M. Copeland, editors. The Breast 1991 W.B. Saunders Philadelphia 262-291
    • (1991) The Breast , pp. 262-291
    • Lynch, H.T.1    Marcus, J.2    Watson, P.3    Lynch, J.4
  • 296
    • 0025961689 scopus 로고
    • Use of the lectin from Amaranthus caudatus as a histochemical probe of proliferating colonic epithelial cells
    • C.R. Boland Y.F. Chen S.J. Rinderle J.H. Resau G.D. Luk H.T. Lynch et al. Use of the lectin from Amaranthus caudatus as a histochemical probe of proliferating colonic epithelial cells Cancer Res 51 1991 657-665
    • (1991) Cancer Res. , vol.51 , pp. 657-665
    • Boland, C.R.1    Chen, Y.F.2    Rinderle, S.J.3    Resau, J.H.4    Luk, G.D.5    Lynch, H.T.6
  • 297
    • 0026497620 scopus 로고
    • Lectin reactivities as intermediate biomarkers in premalignant colorectal epithelium
    • C.R. Boland M.A. Martin I.J. Goldstein Lectin reactivities as intermediate biomarkers in premalignant colorectal epithelium J Cell Biochem Suppl 16G 1992 103-109
    • (1992) J. Cell. Biochem. Suppl. , vol.16 G , pp. 103-109
    • Boland, C.R.1    Martin, M.A.2    Goldstein, I.J.3
  • 298
    • 0028141683 scopus 로고
    • Hereditary non-polyposis colorectal cancer - Morphologies, genes and mutations
    • J.R. Jass S.M. Stewart J. Stewart M.R. Lane Hereditary non-polyposis colorectal cancer - morphologies, genes and mutations Mutat Res 310 1994 125-133
    • (1994) Mutat. Res. , vol.310 , pp. 125-133
    • Jass, J.R.1    Stewart, S.M.2    Stewart, J.3    Lane, M.R.4
  • 299
    • 0011488602 scopus 로고
    • Natural history of hereditary non-polyposis colorectal cancer
    • J.R. Jass Natural history of hereditary non-polyposis colorectal cancer J Tumor Marker Oncol 10 1995 65-71
    • (1995) J. Tumor Marker Oncol. , vol.10 , pp. 65-71
    • Jass, J.R.1
  • 301
    • 0029089259 scopus 로고
    • Hereditary nonpolyposis colorectal cancer: The syndrome, the genes, and historical perspectives
    • G. Marra C.R. Boland Hereditary nonpolyposis colorectal cancer: The syndrome, the genes, and historical perspectives J Natl Cancer Inst 87 1995 1114-1125
    • (1995) J. Natl. Cancer Inst. , vol.87 , pp. 1114-1125
    • Marra, G.1    Boland, C.R.2
  • 302
    • 0029143992 scopus 로고
    • Evidence for a connection between the mismatch repair system and the G2 cell cycle checkpoint
    • M.T. Hawn A. Umar J.M. Carethers G. Marra T.A. Kunkel C.R. Boland et al. Evidence for a connection between the mismatch repair system and the G2 cell cycle checkpoint Cancer Res 55 1995 3721-3725
    • (1995) Cancer Res. , vol.55 , pp. 3721-3725
    • Hawn, M.T.1    Umar, A.2    Carethers, J.M.3    Marra, G.4    Kunkel, T.A.5    Boland, C.R.6
  • 303
    • 0029882494 scopus 로고    scopus 로고
    • Roles of the DNA mismatch repair genes in colorectal tumorigenesis
    • C.R. Boland Roles of the DNA mismatch repair genes in colorectal tumorigenesis Int J Cancer 69 1996 47-49
    • (1996) Int. J. Cancer , vol.69 , pp. 47-49
    • Boland, C.R.1
  • 304
    • 0030870631 scopus 로고    scopus 로고
    • Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred
    • Y. Akiyama H. Sato T. Yamada H. Nagasaki A. Tsuchiya R. Abe et al. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred Cancer Res 57 1997 3920-3923
    • (1997) Cancer Res. , vol.57 , pp. 3920-3923
    • Akiyama, Y.1    Sato, H.2    Yamada, T.3    Nagasaki, H.4    Tsuchiya, A.5    Abe, R.6
  • 305
    • 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
    • C.R. Boland S.N. Thibodeau S.R. Hamilton D. Sidransky J.R. Eshleman R.W. Burt 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 58 1998 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
  • 306
    • 0032527946 scopus 로고    scopus 로고
    • Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma
    • International Collaborative Group on HNPCC
    • M.A. Rodriguez-Bigas H.F. Vasen H.T. Lynch P. Watson T. Myrhoj H.J. Järvinen et al. Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC Cancer 83 1998 240-244
    • (1998) Cancer , vol.83 , pp. 240-244
    • Rodriguez-Bigas, M.A.1    Vasen, H.F.2    Lynch, H.T.3    Watson, P.4    Myrhoj, T.5    Järvinen, H.J.6
  • 307
    • 0035004914 scopus 로고    scopus 로고
    • Germline characterization of early-aged onset of hereditary non-polyposis colorectal cancer
    • S.C. Huang J.E. Lavine P.S. Boland R.O. Newbury R. Kolodner T.T. Pham et al. Germline characterization of early-aged onset of hereditary non-polyposis colorectal cancer J Pediatr 138 2001 629-635
    • (2001) J. Pediatr. , vol.138 , pp. 629-635
    • Huang, S.C.1    Lavine, J.E.2    Boland, P.S.3    Newbury, R.O.4    Kolodner, R.5    Pham, T.T.6
  • 308
    • 0038002279 scopus 로고    scopus 로고
    • Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer
    • C.M. Ribic D.J. Sargent M.J. Moore S.N. Thibodeau A.J. French R.M. Goldberg et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer N Engl J Med 349 2003 247-257
    • (2003) N. Engl. J. Med. , vol.349 , pp. 247-257
    • Ribic, C.M.1    Sargent, D.J.2    Moore, M.J.3    Thibodeau, S.N.4    French, A.J.5    Goldberg, R.M.6
  • 310
    • 0036206130 scopus 로고    scopus 로고
    • Protean PTEN: Form and function
    • K.A. Waite C. Eng Protean PTEN: Form and function Am J Hum Genet 70 2002 829-844
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 829-844
    • Waite, K.A.1    Eng, C.2


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