메뉴 건너뛰기




Volumn 32, Issue 1 SPEC. ISS., 2005, Pages 11-23

Genetics of hereditary colorectal cancer

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN;

EID: 13844264431     PISSN: 00937754     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.seminoncol.2004.09.034     Document Type: Article
Times cited : (51)

References (152)
  • 1
    • 0027267282 scopus 로고
    • Cancer risk in relatives of patients with common colorectal cancer
    • D.J. St John, F.T. McDermott, J.L. Hopper Cancer risk in relatives of patients with common colorectal cancer Ann Intern Med 118 1993 785 790
    • (1993) Ann Intern Med , vol.118 , pp. 785-790
    • St John, D.J.1    McDermott, F.T.2    Hopper, J.L.3
  • 2
    • 0027942094 scopus 로고
    • A prospective study of family history and the risk of colorectal cancer
    • C.S. Fuchs, E.L. Giovannucci, G.A. Colditz A prospective study of family history and the risk of colorectal cancer N Engl J Med 331 1994 1669 1674
    • (1994) N Engl J Med , vol.331 , pp. 1669-1674
    • Fuchs, C.S.1    Giovannucci, E.L.2    Colditz, G.A.3
  • 3
    • 0034793635 scopus 로고    scopus 로고
    • A systematic review and meta-analysis of familial colorectal cancer risk
    • L.E. Johns, R.S. Houlston A systematic review and meta-analysis of familial colorectal cancer risk Am J Gastroenterol 96 2001 2992 3003
    • (2001) Am J Gastroenterol , vol.96 , pp. 2992-3003
    • Johns, L.E.1    Houlston, R.S.2
  • 4
    • 0034799747 scopus 로고    scopus 로고
    • The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer
    • W.S. Samowitz, K. Curtin, H.H. Lin The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer Gastroenterology 121 2001 830 838
    • (2001) Gastroenterology , vol.121 , pp. 830-838
    • Samowitz, W.S.1    Curtin, K.2    Lin, H.H.3
  • 5
    • 0023748414 scopus 로고
    • Genetic alterations during colorectal-tumor development
    • B. Vogelstein, E.R. Fearon, S.R. Hamilton Genetic alterations during colorectal-tumor development N Engl J Med 319 1988 525 532
    • (1988) N Engl J Med , vol.319 , pp. 525-532
    • Vogelstein, B.1    Fearon, E.R.2    Hamilton, S.R.3
  • 6
    • 0033858528 scopus 로고    scopus 로고
    • The genetic basis of colorectal cancer: Insights into critical pathways of tumorigenesis
    • D.C. Chung The genetic basis of colorectal cancer Insights into critical pathways of tumorigenesis Gastroenterology 119 2000 854 865
    • (2000) Gastroenterology , vol.119 , pp. 854-865
    • Chung, D.C.1
  • 7
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • A.G. Knudson Jr Mutation and cancer statistical study of retinoblastoma Proc Natl Acad Sci U S A 68 1971 820 823
    • (1971) Proc Natl Acad Sci U S a , vol.68 , pp. 820-823
    • Knudson, A.G.1    Jr2
  • 8
    • 0028845919 scopus 로고
    • DNA mismatch repair and cancer
    • D.C. Chung, A.K. Rustgi DNA mismatch repair and cancer Gastroenterology 109 1995 1685 1699
    • (1995) Gastroenterology , vol.109 , pp. 1685-1699
    • Chung, D.C.1    Rustgi, A.K.2
  • 9
    • 0042855876 scopus 로고    scopus 로고
    • Ethical, legal, and social implications of genomic medicine
    • E.W. Clayton Ethical, legal, and social implications of genomic medicine N Engl J Med 349 2003 562 569
    • (2003) N Engl J Med , vol.349 , pp. 562-569
    • Clayton, E.W.1
  • 11
    • 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
  • 12
    • 0027461243 scopus 로고
    • The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment
    • T. Iwama, Y. Mishima, J. Utsunomiya The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment Ann Surg 217 1993 101 108
    • (1993) Ann Surg , vol.217 , pp. 101-108
    • Iwama, T.1    Mishima, Y.2    Utsunomiya, J.3
  • 13
    • 0034754257 scopus 로고    scopus 로고
    • Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: Cumulative risks and APC gene mutations
    • J. Bjork, H. Akerbrant, L. Iselius Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis Cumulative risks and APC gene mutations Gastroenterology 121 2001 1127 1135
    • (2001) Gastroenterology , vol.121 , pp. 1127-1135
    • Bjork, J.1    Akerbrant, H.2    Iselius, L.3
  • 14
    • 0142213727 scopus 로고    scopus 로고
    • Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 34-2003. A 45-year-old woman with a family history of colonic polyps and cancer
    • D.C. Chung, M. Mino, K.M. Shannon Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 34-2003. A 45-year-old woman with a family history of colonic polyps and cancer N Engl J Med 349 2003 1750 1760
    • (2003) N Engl J Med , vol.349 , pp. 1750-1760
    • Chung, D.C.1    Mino, M.2    Shannon, K.M.3
  • 15
    • 0028323465 scopus 로고
    • Desmoid tumours in familial adenomatous polyposis
    • A.K. Gurbuz, F.M. Giardiello, G.M. Petersen Desmoid tumours in familial adenomatous polyposis Gut 35 1994 377 381
    • (1994) Gut , vol.35 , pp. 377-381
    • Gurbuz, A.K.1    Giardiello, F.M.2    Petersen, G.M.3
  • 16
    • 0028970197 scopus 로고
    • The molecular basis of Turcot's syndrome
    • S.R. Hamilton, B. Liu, R.E. Parsons The molecular basis of Turcot's syndrome N Engl J Med 332 1995 839 847
    • (1995) N Engl J Med , vol.332 , pp. 839-847
    • Hamilton, S.R.1    Liu, B.2    Parsons, R.E.3
  • 17
    • 0028823186 scopus 로고
    • Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP
    • H.T. Lynch, T. Smyrk, T. McGinn Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP Cancer 76 1995 2427 2433
    • (1995) Cancer , vol.76 , pp. 2427-2433
    • Lynch, H.T.1    Smyrk, T.2    McGinn, T.3
  • 18
    • 0036314204 scopus 로고    scopus 로고
    • Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: Case report with review of the literature
    • Y. Cao, M. Pieretti, J. Marshall Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer Case report with review of the literature Am J Gastroenterol 97 2002 1822 1827
    • (2002) Am J Gastroenterol , vol.97 , pp. 1822-1827
    • Cao, Y.1    Pieretti, M.2    Marshall, J.3
  • 19
    • 0025817880 scopus 로고
    • Identification of FAP locus genes from chromosome 5q21
    • K.W. Kinzler, M.C. Nilbert, L.K. Su Identification of FAP locus genes from chromosome 5q21 Science 253 1991 661 665
    • (1991) Science , vol.253 , pp. 661-665
    • Kinzler, K.W.1    Nilbert, M.C.2    Su, L.K.3
  • 20
    • 0025899162 scopus 로고
    • Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients
    • I. Nishisho, Y. Nakamura, Y. Miyoshi Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients Science 253 1991 665 669
    • (1991) Science , vol.253 , pp. 665-669
    • Nishisho, I.1    Nakamura, Y.2    Miyoshi, Y.3
  • 21
    • 0025938038 scopus 로고
    • Identification and characterization of the familial adenomatous polyposis coli gene
    • J. Groden, A. Thliveris, W. Samowitz Identification and characterization of the familial adenomatous polyposis coli gene Cell 66 1991 589 600
    • (1991) Cell , vol.66 , pp. 589-600
    • Groden, J.1    Thliveris, A.2    Samowitz, W.3
  • 22
    • 0028291928 scopus 로고
    • Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors
    • M. Miyaki, M. Konishi, R. Kikuchi-Yanoshita Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors Cancer Res 54 1994 3011 3020
    • (1994) Cancer Res , vol.54 , pp. 3011-3020
    • Miyaki, M.1    Konishi, M.2    Kikuchi-Yanoshita, R.3
  • 23
    • 0026894053 scopus 로고
    • Somatic mutations of the APC gene in colorectal tumors: Mutation cluster region in the APC gene
    • Y. Miyoshi, H. Nagase, H. Ando Somatic mutations of the APC gene in colorectal tumors Mutation cluster region in the APC gene Hum Mol Genet 1 1992 229 233
    • (1992) Hum Mol Genet , vol.1 , pp. 229-233
    • Miyoshi, Y.1    Nagase, H.2    Ando, H.3
  • 24
    • 19144362716 scopus 로고    scopus 로고
    • Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene
    • Z. Dobbie, M. Spycher, J.L. Mary Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene J Med Genet 33 1996 274 280
    • (1996) J Med Genet , vol.33 , pp. 274-280
    • Dobbie, Z.1    Spycher, M.2    Mary, J.L.3
  • 25
    • 0026651826 scopus 로고
    • Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients
    • H. Nagase, Y. Miyoshi, A. Horii Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients Cancer Res 52 1992 4055 4057
    • (1992) Cancer Res , vol.52 , pp. 4055-4057
    • Nagase, H.1    Miyoshi, Y.2    Horii, A.3
  • 26
    • 0027724691 scopus 로고
    • Alleles of the APC gene: An attenuated form of familial polyposis
    • L. Spirio, S. Olschwang, J. Groden Alleles of the APC gene An attenuated form of familial polyposis Cell 75 1993 951 957
    • (1993) Cell , vol.75 , pp. 951-957
    • Spirio, L.1    Olschwang, S.2    Groden, J.3
  • 27
    • 0036141958 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis: An evolving and poorly understood entity
    • G.S. Hernegger, H.G. Moore, J.G. Guillem Attenuated familial adenomatous polyposis an evolving and poorly understood entity Dis Colon Rectum. 45 2002 127 134
    • (2002) Dis Colon Rectum. , vol.45 , pp. 127-134
    • Hernegger, G.S.1    Moore, H.G.2    Guillem, J.G.3
  • 28
    • 0037062434 scopus 로고    scopus 로고
    • Attenuated APC alleles produce functional protein from internal translation initiation
    • K. Heppner Goss, C. Trzepacz, T.M. Tuohy Attenuated APC alleles produce functional protein from internal translation initiation Proc Natl Acad Sci U S A 99 2002 8161 8166
    • (2002) Proc Natl Acad Sci U S a , vol.99 , pp. 8161-8166
    • Heppner Goss, K.1    Trzepacz, C.2    Tuohy, T.M.3
  • 29
    • 0037518118 scopus 로고    scopus 로고
    • Genetic testing for high-risk colon cancer patients
    • W.M. Grady Genetic testing for high-risk colon cancer patients Gastroenterology 124 2003 1574 1594
    • (2003) Gastroenterology , vol.124 , pp. 1574-1594
    • Grady, W.M.1
  • 30
    • 0034955851 scopus 로고    scopus 로고
    • AGA technical review on hereditary colorectal cancer and genetic testing
    • F.M. Giardiello, J.D. Brensinger, G.M. Petersen AGA technical review on hereditary colorectal cancer and genetic testing Gastroenterology 121 2001 198 213
    • (2001) Gastroenterology , vol.121 , pp. 198-213
    • Giardiello, F.M.1    Brensinger, J.D.2    Petersen, G.M.3
  • 31
    • 0034764411 scopus 로고    scopus 로고
    • Risk stratification for periampullary carcinoma in patients with familial adenomatous polyposis: Does Theodore know what to do now?
    • C. Burke Risk stratification for periampullary carcinoma in patients with familial adenomatous polyposis Does Theodore know what to do now? Gastroenterology 121 2001 1246 1248
    • (2001) Gastroenterology , vol.121 , pp. 1246-1248
    • Burke, C.1
  • 32
    • 0018080184 scopus 로고
    • Management of familial polyposis with preservation of the rectum
    • J.C. Harvey, S.H. Quan, M.W. Stearns Management of familial polyposis with preservation of the rectum Surgery 84 1978 476 482
    • (1978) Surgery , vol.84 , pp. 476-482
    • Harvey, J.C.1    Quan, S.H.2    Stearns, M.W.3
  • 33
    • 0034465534 scopus 로고    scopus 로고
    • Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis
    • C. Bulow, H. Vasen, H. Jarvinen Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis Gastroenterology 119 2000 1454 1460
    • (2000) Gastroenterology , vol.119 , pp. 1454-1460
    • Bulow, C.1    Vasen, H.2    Jarvinen, H.3
  • 34
    • 0020565187 scopus 로고
    • Sulindac for polyposis of the colon
    • W.R. Waddell, R.W. Loughry Sulindac for polyposis of the colon J Surg Oncol 24 1983 83 87
    • (1983) J Surg Oncol , vol.24 , pp. 83-87
    • Waddell, W.R.1    Loughry, R.W.2
  • 35
    • 0027197062 scopus 로고
    • Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis
    • F.M. Giardiello, S.R. Hamilton, A.J. Krush Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis N Engl J Med 328 1993 1313 1316
    • (1993) N Engl J Med , vol.328 , pp. 1313-1316
    • Giardiello, F.M.1    Hamilton, S.R.2    Krush, A.J.3
  • 36
    • 0025834849 scopus 로고
    • Sulindac causes regression of rectal polyps in familial adenomatous polyposis
    • D. Labayle, D. Fischer, P. Vielh Sulindac causes regression of rectal polyps in familial adenomatous polyposis Gastroenterology 101 1991 635 639
    • (1991) Gastroenterology , vol.101 , pp. 635-639
    • Labayle, D.1    Fischer, D.2    Vielh, P.3
  • 37
    • 0035138950 scopus 로고    scopus 로고
    • Endoscopic surveillance and ablative therapy for periampullary adenomas
    • I.D. Norton, A. Geller, B.T. Petersen Endoscopic surveillance and ablative therapy for periampullary adenomas Am J Gastroenterol 96 2001 101 106
    • (2001) Am J Gastroenterol , vol.96 , pp. 101-106
    • Norton, I.D.1    Geller, A.2    Petersen, B.T.3
  • 38
    • 0032555020 scopus 로고    scopus 로고
    • Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
    • L.A. Aaltonen, R. Salovaara, P. Kristo Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease N Engl J Med 338 1998 1481 1487
    • (1998) N Engl J Med , vol.338 , pp. 1481-1487
    • Aaltonen, L.A.1    Salovaara, R.2    Kristo, P.3
  • 39
    • 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
  • 41
    • 0034642605 scopus 로고    scopus 로고
    • Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer
    • R. Gryfe, H. Kim, E.T. Hsieh Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer N Engl J Med 342 2000 69 77
    • (2000) N Engl J Med , vol.342 , pp. 69-77
    • Gryfe, R.1    Kim, H.2    Hsieh, E.T.3
  • 42
    • 0030061148 scopus 로고    scopus 로고
    • Better survival rates in patients with MLH1-associated hereditary colorectal cancer
    • R. Sankila, L.A. Aaltonen, H.J. Jarvinen 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    Jarvinen, H.J.3
  • 43
    • 0035875903 scopus 로고    scopus 로고
    • Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal carcinoma
    • T.C. Smyrk, P. Watson, K. Kaul 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
  • 44
    • 0035132202 scopus 로고    scopus 로고
    • Histopathological identification of colon cancer with microsatellite instability
    • J. Alexander, T. Watanabe, T.T. Wu Histopathological identification of colon cancer with microsatellite instability Am J Pathol 158 2001 527 535
    • (2001) Am J Pathol , vol.158 , pp. 527-535
    • Alexander, J.1    Watanabe, T.2    Wu, T.T.3
  • 45
    • 0028034537 scopus 로고
    • The tumor spectrum in HNPCC
    • P. Watson, H.T. Lynch The tumor spectrum in HNPCC Anticancer Res 14 1994 1635 1639
    • (1994) Anticancer Res , vol.14 , pp. 1635-1639
    • Watson, P.1    Lynch, H.T.2
  • 46
    • 0032741621 scopus 로고    scopus 로고
    • The Muir-Torre syndrome in kindreds with hereditary nonpolyposis colorectal cancer (Lynch syndrome): A classic obligation in preventive medicine
    • H.T. Lynch, R.M. Fusaro The Muir-Torre syndrome in kindreds with hereditary nonpolyposis colorectal cancer (Lynch syndrome) A classic obligation in preventive medicine J Am Acad Dermatol 41 1999 797 799
    • (1999) J Am Acad Dermatol , vol.41 , pp. 797-799
    • Lynch, H.T.1    Fusaro, R.M.2
  • 47
    • 0025848680 scopus 로고
    • The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
    • H.F. Vasen, J.P. Mecklin, P.M. Khan The International Collaborative Group on Hereditary Non-Polyposis 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.M.3
  • 48
    • 0033063711 scopus 로고    scopus 로고
    • New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC
    • H.F. Vasen, P. Watson, J.P. Mecklin 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.1    Watson, P.2    Mecklin, J.P.3
  • 49
    • 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 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
  • 50
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • A. Umar, C.R. Boland, J.P. Terdiman Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 2004 261 268
    • (2004) J Natl Cancer Inst , vol.96 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 51
    • 0027742295 scopus 로고
    • The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
    • R. Fishel, M.K. Lescoe, M.R. Rao The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer Cell 75 1993 1027 1038
    • (1993) Cell , vol.75 , pp. 1027-1038
    • Fishel, R.1    Lescoe, M.K.2    Rao, M.R.3
  • 53
    • 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 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
  • 54
    • 0027145633 scopus 로고
    • Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
    • F.S. Leach, N.C. Nicolaides, N. Papadopoulos 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    Papadopoulos, N.3
  • 55
    • 0028350601 scopus 로고
    • Mutation of a mutL homolog in hereditary colon cancer
    • N. Papadopoulos, N.C. Nicolaides, Y.F. Wei Mutation of a mutL homolog in hereditary colon cancer Science 263 1994 1625 1629
    • (1994) Science , vol.263 , pp. 1625-1629
    • Papadopoulos, N.1    Nicolaides, N.C.2    Wei, Y.F.3
  • 56
    • 0027933070 scopus 로고
    • Mutations of two PMS homologues in hereditary nonpolyposis colon cancer
    • N.C. Nicolaides, N. Papadopoulos, B. Liu Mutations of two PMS homologues in hereditary nonpolyposis colon cancer Nature 371 1994 75 80
    • (1994) Nature , vol.371 , pp. 75-80
    • Nicolaides, N.C.1    Papadopoulos, N.2    Liu, B.3
  • 57
    • 0028106776 scopus 로고
    • HMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds
    • B. Liu, R.E. Parsons, S.R. Hamilton hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds Cancer Res 54 1994 4590 4594
    • (1994) Cancer Res , vol.54 , pp. 4590-4594
    • Liu, B.1    Parsons, R.E.2    Hamilton, S.R.3
  • 58
    • 0027137935 scopus 로고
    • Hypermutability and mismatch repair deficiency in RER+ tumor cells
    • R. Parsons, G.M. Li, M.J. Longley 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
  • 59
    • 0027263363 scopus 로고
    • Genetic mapping of a locus predisposing to human colorectal cancer
    • P. Peltomaki, L.A. Aaltonen, P. Sistonen Genetic mapping of a locus predisposing to human colorectal cancer Science 260 1993 810 812
    • (1993) Science , vol.260 , pp. 810-812
    • Peltomaki, P.1    Aaltonen, L.A.2    Sistonen, P.3
  • 60
    • 0027485551 scopus 로고
    • Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer
    • A. Lindblom, P. Tannergard, B. Werelius 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
  • 61
    • 0028595722 scopus 로고
    • Binding of mismatched microsatellite DNA sequences by the human MSH2 protein
    • R. Fishel, A. Ewel, S. Lee Binding of mismatched microsatellite DNA sequences by the human MSH2 protein Science 266 1994 1403 1405
    • (1994) Science , vol.266 , pp. 1403-1405
    • Fishel, R.1    Ewel, A.2    Lee, S.3
  • 62
    • 0028128601 scopus 로고
    • MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeast
    • T.A. Prolla, Q. Pang, E. Alani MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeast Science 265 1994 1091 1093
    • (1994) Science , vol.265 , pp. 1091-1093
    • Prolla, T.A.1    Pang, Q.2    Alani, E.3
  • 63
    • 0029066689 scopus 로고
    • Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability
    • S. Markowitz, J. Wang, L. Myeroff Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability Science 268 1995 1336 1338
    • (1995) Science , vol.268 , pp. 1336-1338
    • Markowitz, S.1    Wang, J.2    Myeroff, L.3
  • 64
    • 16144368515 scopus 로고    scopus 로고
    • Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumours
    • R.F. Souza, R. Appel, J. Yin Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumours Nat Genet 14 1996 255 257
    • (1996) Nat Genet , vol.14 , pp. 255-257
    • Souza, R.F.1    Appel, R.2    Yin, J.3
  • 65
    • 0030583609 scopus 로고    scopus 로고
    • Mutations of E2F-4 trinucleotide repeats in colorectal cancer with microsatellite instability
    • T. Yoshitaka, N. Matsubara, M. Ikeda Mutations of E2F-4 trinucleotide repeats in colorectal cancer with microsatellite instability Biochem Biophys Res Commun 227 1996 553 557
    • (1996) Biochem Biophys Res Commun , vol.227 , pp. 553-557
    • Yoshitaka, T.1    Matsubara, N.2    Ikeda, M.3
  • 66
    • 0031018674 scopus 로고    scopus 로고
    • Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype
    • N. Rampino, H. Yamamoto, Y. Ionov Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype Science 275 1997 967 969
    • (1997) Science , vol.275 , pp. 967-969
    • Rampino, N.1    Yamamoto, H.2    Ionov, Y.3
  • 68
    • 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 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
  • 69
    • 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 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
  • 70
    • 0032749569 scopus 로고    scopus 로고
    • Germ-line msh6 mutations in colorectal cancer families
    • R.D. Kolodner, J.D. Tytell, J.L. Schmeits Germ-line msh6 mutations in colorectal cancer families Cancer Res 59 1999 5068 5074
    • (1999) Cancer Res , vol.59 , pp. 5068-5074
    • Kolodner, R.D.1    Tytell, J.D.2    Schmeits, J.L.3
  • 71
    • 0001628596 scopus 로고    scopus 로고
    • Familial endometrial cancer in female carriers of MSH6 germline mutations
    • J. Wijnen, W. de Leeuw, H. Vasen Familial endometrial cancer in female carriers of MSH6 germline mutations Nat Genet 23 1999 142 144
    • (1999) Nat Genet , vol.23 , pp. 142-144
    • Wijnen, J.1    De Leeuw, W.2    Vasen, H.3
  • 72
    • 0033591855 scopus 로고    scopus 로고
    • Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: Implications for clinical predisposition testing
    • S. Syngal, E.A. Fox, C. Li Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer Implications for clinical predisposition testing JAMA 282 1999 247 253
    • (1999) JAMA , vol.282 , pp. 247-253
    • Syngal, S.1    Fox, E.A.2    Li, C.3
  • 73
    • 10144250305 scopus 로고    scopus 로고
    • Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer
    • G. Moslein, D.J. Tester, N.M. Lindor Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer Hum Mol Genet 5 1996 1245 1252
    • (1996) Hum Mol Genet , vol.5 , pp. 1245-1252
    • Moslein, G.1    Tester, D.J.2    Lindor, N.M.3
  • 74
    • 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 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
  • 75
    • 0032552239 scopus 로고    scopus 로고
    • Clinical findings with implications for genetic testing in families with clustering of colorectal cancer
    • J.T. Wijnen, H.F. Vasen, P.M. Khan Clinical findings with implications for genetic testing in families with clustering of colorectal cancer N Engl J Med 339 1998 511 518
    • (1998) N Engl J Med , vol.339 , pp. 511-518
    • Wijnen, J.T.1    Vasen, H.F.2    Khan, P.M.3
  • 76
    • 0036468254 scopus 로고    scopus 로고
    • MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer
    • F. Charbonnier, S. Olschwang, Q. Wang MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer Cancer Res 62 2002 848 853
    • (2002) Cancer Res , vol.62 , pp. 848-853
    • Charbonnier, F.1    Olschwang, S.2    Wang, Q.3
  • 77
    • 0036185981 scopus 로고    scopus 로고
    • A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1
    • Y. Wang, W. Friedl, M. Sengteller A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1 Hum Mutat 19 2002 279 286
    • (2002) Hum Mutat , vol.19 , pp. 279-286
    • Wang, Y.1    Friedl, W.2    Sengteller, M.3
  • 78
    • 0037310758 scopus 로고    scopus 로고
    • Colorectal cancer screening and surveillance: Clinical guidelines and rationale--Update based on new evidence
    • S. Winawer, R. Fletcher, D. Rex Colorectal cancer screening and surveillance clinical guidelines and rationale--Update based on new evidence Gastroenterology 124 2003 544 560
    • (2003) Gastroenterology , vol.124 , pp. 544-560
    • Winawer, S.1    Fletcher, R.2    Rex, D.3
  • 79
    • 0036478899 scopus 로고    scopus 로고
    • Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors
    • N. Al-Tassan, N.H. Chmiel, J. Maynard Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors Nat Genet 30 2002 227 232
    • (2002) Nat Genet , vol.30 , pp. 227-232
    • Al-Tassan, N.1    Chmiel, N.H.2    Maynard, J.3
  • 80
    • 0036848267 scopus 로고    scopus 로고
    • Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations
    • S. Jones, P. Emmerson, J. Maynard Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations Hum Mol Genet 11 2002 2961 2967
    • (2002) Hum Mol Genet , vol.11 , pp. 2961-2967
    • Jones, S.1    Emmerson, P.2    Maynard, J.3
  • 81
    • 0037468517 scopus 로고    scopus 로고
    • Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
    • O.M. Sieber, L. Lipton, M. Crabtree Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH N Engl J Med 348 2003 791 799
    • (2003) N Engl J Med , vol.348 , pp. 791-799
    • Sieber, O.M.1    Lipton, L.2    Crabtree, M.3
  • 82
    • 0038501052 scopus 로고    scopus 로고
    • Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
    • J.R. Sampson, S. Dolwani, S. Jones Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH Lancet 362 2003 39 41
    • (2003) Lancet , vol.362 , pp. 39-41
    • Sampson, J.R.1    Dolwani, S.2    Jones, S.3
  • 83
    • 0041423452 scopus 로고    scopus 로고
    • Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients
    • S. Enholm, T. Hienonen, A. Suomalainen Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients Am J Pathol 163 2003 827 832
    • (2003) Am J Pathol , vol.163 , pp. 827-832
    • Enholm, S.1    Hienonen, T.2    Suomalainen, A.3
  • 84
    • 0037408432 scopus 로고    scopus 로고
    • Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers
    • S.E. Halford, A.J. Rowan, L. Lipton Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers Am J Pathol 162 2003 1545 1548
    • (2003) Am J Pathol , vol.162 , pp. 1545-1548
    • Halford, S.E.1    Rowan, A.J.2    Lipton, L.3
  • 85
    • 0141960200 scopus 로고    scopus 로고
    • Exposing the MYtH about base excision repair and human inherited disease
    • J.P. Cheadle, J.R. Sampson Exposing the MYtH about base excision repair and human inherited disease Hum Mol Genet 12 suppl 2 2003 R159 R165
    • (2003) Hum Mol Genet , vol.12 , Issue.2 SUPPL.
    • Cheadle, J.P.1    Sampson, J.R.2
  • 86
    • 0030004207 scopus 로고    scopus 로고
    • Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage
    • M.M. Slupska, C. Baikalov, W.M. Luther Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage J Bacteriol 178 1996 3885 3892
    • (1996) J Bacteriol , vol.178 , pp. 3885-3892
    • Slupska, M.M.1    Baikalov, C.2    Luther, W.M.3
  • 87
    • 0023992806 scopus 로고
    • The mutY gene: A mutator locus in Escherichia coli that generates G.C→T.A transversions
    • Y. Nghiem, M. Cabrera, C.G. Cupples The mutY gene a mutator locus in Escherichia coli that generates G.C→T.A transversions Proc Natl Acad Sci U S A 85 1988 2709 2713
    • (1988) Proc Natl Acad Sci U S a , vol.85 , pp. 2709-2713
    • Nghiem, Y.1    Cabrera, M.2    Cupples, C.G.3
  • 88
    • 0026701365 scopus 로고
    • The GO system protects organisms from the mutagenic effect of the spontaneous lesion 8-hydroxyguanine (7,8-dihydro-8-oxoguanine)
    • M.L. Michaels, J.H. Miller The GO system protects organisms from the mutagenic effect of the spontaneous lesion 8-hydroxyguanine (7,8-dihydro-8- oxoguanine) J Bacteriol 174 1992 6321 6325
    • (1992) J Bacteriol , vol.174 , pp. 6321-6325
    • Michaels, M.L.1    Miller, J.H.2
  • 89
    • 0027215203 scopus 로고
    • Mutations in the mutY gene of Escherichia coli enhance the frequency of targeted G:C→T:a transversions induced by a single 8-oxoguanine residue in single-stranded DNA
    • M. Moriya, A.P. Grollman Mutations in the mutY gene of Escherichia coli enhance the frequency of targeted G:C→T:a transversions induced by a single 8-oxoguanine residue in single-stranded DNA Mol Gen Genet 239 1993 72 76
    • (1993) Mol Gen Genet , vol.239 , pp. 72-76
    • Moriya, M.1    Grollman, A.P.2
  • 91
    • 0020443317 scopus 로고
    • Peutz-Jeghers syndrome. A clinicopathologic study of a large family with a 27-year follow-up
    • D. Burdick, J.T. Prior Peutz-Jeghers syndrome. A clinicopathologic study of a large family with a 27-year follow-up Cancer 50 1982 2139 2146
    • (1982) Cancer , vol.50 , pp. 2139-2146
    • Burdick, D.1    Prior, J.T.2
  • 92
    • 0032908579 scopus 로고    scopus 로고
    • Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas
    • A. Rowan, V. Bataille, R. MacKie Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas J Invest Dermatol 112 1999 509 511
    • (1999) J Invest Dermatol , vol.112 , pp. 509-511
    • Rowan, A.1    Bataille, V.2    MacKie, R.3
  • 93
    • 0032984141 scopus 로고    scopus 로고
    • Germline and somatic mutations of the STK11/LKB1 Peutz-Jeghers gene in pancreatic and biliary cancers
    • G.H. Su, R.H. Hruban, R.K. Bansal Germline and somatic mutations of the STK11/LKB1 Peutz-Jeghers gene in pancreatic and biliary cancers Am J Pathol 154 1999 1835 1840
    • (1999) Am J Pathol , vol.154 , pp. 1835-1840
    • Su, G.H.1    Hruban, R.H.2    Bansal, R.K.3
  • 94
    • 0032949434 scopus 로고    scopus 로고
    • Allele loss and mutation screen at the Peutz-Jeghers (LKB1) locus (19p13.3) in sporadic ovarian tumours
    • Z.J. Wang, M. Churchman, I.G. Campbell Allele loss and mutation screen at the Peutz-Jeghers (LKB1) locus (19p13.3) in sporadic ovarian tumours Br J Cancer 80 1999 70 72
    • (1999) Br J Cancer , vol.80 , pp. 70-72
    • Wang, Z.J.1    Churchman, M.2    Campbell, I.G.3
  • 95
    • 0022577850 scopus 로고
    • Testicular tumors with Peutz-Jeghers syndrome
    • D.M. Wilson, W.C. Pitts, R.L. Hintz Testicular tumors with Peutz-Jeghers syndrome Cancer 57 1986 2238 2240
    • (1986) Cancer , vol.57 , pp. 2238-2240
    • Wilson, D.M.1    Pitts, W.C.2    Hintz, R.L.3
  • 96
    • 0018894333 scopus 로고
    • Peutz-Jeghers syndrome with feminizing sertoli cell tumor
    • J.M. Cantu, H. Rivera, R. Ocampo-Campos Peutz-Jeghers syndrome with feminizing sertoli cell tumor Cancer 46 1980 223 228
    • (1980) Cancer , vol.46 , pp. 223-228
    • Cantu, J.M.1    Rivera, H.2    Ocampo-Campos, R.3
  • 97
    • 0019967240 scopus 로고
    • Peutz-Jeghers syndrome and bilateral breast carcinoma
    • H. Trau, M. Schewach-Millet, B.K. Fisher Peutz-Jeghers syndrome and bilateral breast carcinoma Cancer 50 1982 788 792
    • (1982) Cancer , vol.50 , pp. 788-792
    • Trau, H.1    Schewach-Millet, M.2    Fisher, B.K.3
  • 98
    • 0028028274 scopus 로고
    • Management of Peutz-Jeghers syndrome. Experience with patients from the Danish Polyposis Register
    • I. Rebsdorf Pedersen, A. Hartvigsen, B. Fischer Hansen Management of Peutz-Jeghers syndrome. Experience with patients from the Danish Polyposis Register Int J Colorectal Dis 9 1994 177 179
    • (1994) Int J Colorectal Dis , vol.9 , pp. 177-179
    • Rebsdorf Pedersen, I.1    Hartvigsen, A.2    Fischer Hansen, B.3
  • 99
    • 0024238366 scopus 로고
    • Peutz-Jeghers syndrome: A clinicopathologic survey of the "harrisburg family" with a 49-year follow-up
    • T.R. Foley, T.J. McGarrity, A.B. Abt Peutz-Jeghers syndrome A clinicopathologic survey of the "Harrisburg family" with a 49-year follow-up Gastroenterology 95 1988 1535 1540
    • (1988) Gastroenterology , vol.95 , pp. 1535-1540
    • Foley, T.R.1    McGarrity, T.J.2    Abt, A.B.3
  • 100
    • 0032495530 scopus 로고    scopus 로고
    • A serine/threonine kinase gene defective in Peutz-Jeghers syndrome
    • A. Hemminki, D. Markie, I. Tomlinson A serine/threonine kinase gene defective in Peutz-Jeghers syndrome Nature 391 1998 184 187
    • (1998) Nature , vol.391 , pp. 184-187
    • Hemminki, A.1    Markie, D.2    Tomlinson, I.3
  • 101
    • 0031974516 scopus 로고    scopus 로고
    • Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase
    • D.E. Jenne, H. Reimann, J. Nezu 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.3
  • 102
    • 0036636173 scopus 로고    scopus 로고
    • LKB1--A master tumour suppressor of the small intestine and beyond
    • L.I. Yoo, D.C. Chung, J. Yuan LKB1--A master tumour suppressor of the small intestine and beyond Nat Rev Cancer 2 2002 529 535
    • (2002) Nat Rev Cancer , vol.2 , pp. 529-535
    • Yoo, L.I.1    Chung, D.C.2    Yuan, J.3
  • 103
    • 0345107247 scopus 로고    scopus 로고
    • Complexes between the LKB1 tumor suppressor, STRADalpha/beta and MO25alpha/beta are upstream kinases in the AMP-activated protein kinase cascade
    • S.A. Hawley, J. Boudeau, J.L. Reid Complexes between the LKB1 tumor suppressor, STRADalpha/beta and MO25alpha/beta are upstream kinases in the AMP-activated protein kinase cascade J Biol 2 2003 28
    • (2003) J Biol , vol.2 , pp. 28
    • Hawley, S.A.1    Boudeau, J.2    Reid, J.L.3
  • 104
    • 10744230065 scopus 로고    scopus 로고
    • LKB1 is the upstream kinase in the AMP-activated protein kinase cascade
    • A. Woods, S.R. Johnstone, K. Dickerson LKB1 is the upstream kinase in the AMP-activated protein kinase cascade Curr Biol 13 2003 2004 2008
    • (2003) Curr Biol , vol.13 , pp. 2004-2008
    • Woods, A.1    Johnstone, S.R.2    Dickerson, K.3
  • 105
    • 0036822065 scopus 로고    scopus 로고
    • Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients
    • R.J. Scott, R. Crooks, C.J. Meldrum Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients Clin Genet 62 2002 282 287
    • (2002) Clin Genet , vol.62 , pp. 282-287
    • Scott, R.J.1    Crooks, R.2    Meldrum, C.J.3
  • 106
    • 0036801052 scopus 로고    scopus 로고
    • Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome
    • M.G. Dunlop Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome Gut 51 suppl 5 2002 V21 V27
    • (2002) Gut , vol.51 , Issue.5 SUPPL.
    • Dunlop, M.G.1
  • 108
    • 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
  • 109
    • 0028891955 scopus 로고
    • Familial juvenile polyposis: Patterns of recurrence and implications for surgical management
    • C.E. Scott-Conner, M. Hausmann, T.J. Hall Familial juvenile polyposis Patterns of recurrence and implications for surgical management J Am Coll Surg 181 1995 407 413
    • (1995) J Am Coll Surg , vol.181 , pp. 407-413
    • Scott-Conner, C.E.1    Hausmann, M.2    Hall, T.J.3
  • 110
    • 0031799412 scopus 로고    scopus 로고
    • A survey of phenotypic features in juvenile polyposis
    • D.C. Desai, V. Murday, R.K. Phillips A survey of phenotypic features in juvenile polyposis J Med Genet 35 1998 476 481
    • (1998) J Med Genet , vol.35 , pp. 476-481
    • Desai, D.C.1    Murday, V.2    Phillips, R.K.3
  • 111
  • 112
    • 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 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
  • 113
    • 0032524069 scopus 로고    scopus 로고
    • Mutations in the SMAD4/DPC4 gene in juvenile polyposis
    • J.R. Howe, S. Roth, J.C. Ringold Mutations in the SMAD4/DPC4 gene in juvenile polyposis Science 280 1998 1086 1088
    • (1998) Science , vol.280 , pp. 1086-1088
    • Howe, J.R.1    Roth, S.2    Ringold, J.C.3
  • 114
    • 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 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
  • 115
    • 0034063711 scopus 로고    scopus 로고
    • Analysis of genetic and phenotypic heterogeneity in juvenile polyposis
    • K. Woodford-Richens, S. Bevan, M. Churchman Analysis of genetic and phenotypic heterogeneity in juvenile polyposis Gut 46 2000 656 660
    • (2000) Gut , vol.46 , pp. 656-660
    • Woodford-Richens, K.1    Bevan, S.2    Churchman, M.3
  • 116
    • 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 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
  • 117
    • 0036664427 scopus 로고    scopus 로고
    • Juvenile polyposis: Massive gastric polyposis is more common in MADH4 mutation carriers than in BMPRIA mutation carriers
    • W. Friedl, S. Uhlhaas, K. Schulmann Juvenile polyposis Massive gastric polyposis is more common in MADH4 mutation carriers than in BMPRIA mutation carriers Hum Genet 111 2002 108 111
    • (2002) Hum Genet , vol.111 , pp. 108-111
    • Friedl, W.1    Uhlhaas, S.2    Schulmann, K.3
  • 118
    • 0033870678 scopus 로고    scopus 로고
    • Colorectal carcinomas arising in the hyperplastic polyposis syndrome progress through the chromosomal instability pathway
    • N.J. Hawkins, P. Gorman, I.P. Tomlinson Colorectal carcinomas arising in the hyperplastic polyposis syndrome progress through the chromosomal instability pathway Am J Pathol 157 2000 385 392
    • (2000) Am J Pathol , vol.157 , pp. 385-392
    • Hawkins, N.J.1    Gorman, P.2    Tomlinson, I.P.3
  • 119
    • 0033864964 scopus 로고    scopus 로고
    • Phenotypic and molecular characteristics of hyperplastic polyposis
    • A. Rashid, P.S. Houlihan, S. Booker Phenotypic and molecular characteristics of hyperplastic polyposis Gastroenterology 119 2000 323 332
    • (2000) Gastroenterology , vol.119 , pp. 323-332
    • Rashid, A.1    Houlihan, P.S.2    Booker, S.3
  • 121
    • 0035117199 scopus 로고    scopus 로고
    • Hyperplastic polyposis: Association with colorectal cancer
    • B.A. Leggett, B. Devereaux, K. Biden Hyperplastic polyposis association with colorectal cancer Am J Surg Pathol 25 2001 177 184
    • (2001) Am J Surg Pathol , vol.25 , pp. 177-184
    • Leggett, B.A.1    Devereaux, B.2    Biden, K.3
  • 122
    • 0032931036 scopus 로고    scopus 로고
    • Hyperplastic-adenomatous polyposis syndrome
    • R.J. Place, C.L. Simmang Hyperplastic-adenomatous polyposis syndrome J Am Coll Surg 188 1999 503 507
    • (1999) J Am Coll Surg , vol.188 , pp. 503-507
    • Place, R.J.1    Simmang, C.L.2
  • 124
    • 0017705228 scopus 로고
    • Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim
    • J. German, D. Bloom, E. Passarge Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim Am J Hum Genet 29 1977 553 562
    • (1977) Am J Hum Genet , vol.29 , pp. 553-562
    • German, J.1    Bloom, D.2    Passarge, E.3
  • 125
    • 0031678636 scopus 로고    scopus 로고
    • Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population
    • L. Li, C. Eng, R.J. Desnick Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population Mol Genet Metab 64 1998 286 290
    • (1998) Mol Genet Metab , vol.64 , pp. 286-290
    • Li, L.1    Eng, C.2    Desnick, R.J.3
  • 126
    • 0027331383 scopus 로고
    • Bloom's syndrome: A mendelian prototype of somatic mutational disease
    • J. German Bloom's syndrome A mendelian prototype of somatic mutational disease Medicine (Baltimore) 72 1993 393 406
    • (1993) Medicine (Baltimore) , vol.72 , pp. 393-406
    • German, J.1
  • 127
    • 0031052108 scopus 로고    scopus 로고
    • Bloom's syndrome. XX. The first 100 cancers
    • J. German Bloom's syndrome. XX. The first 100 cancers Cancer Genet Cytogenet 93 1997 100 106
    • (1997) Cancer Genet Cytogenet , vol.93 , pp. 100-106
    • German, J.1
  • 128
    • 0034903797 scopus 로고    scopus 로고
    • Numerous colonic adenomas in an individual with Bloom's syndrome
    • A.M. Lowy, J.J. Kordich, V. Gismondi Numerous colonic adenomas in an individual with Bloom's syndrome Gastroenterology 121 2001 435 439
    • (2001) Gastroenterology , vol.121 , pp. 435-439
    • Lowy, A.M.1    Kordich, J.J.2    Gismondi, V.3
  • 129
    • 0028785586 scopus 로고
    • The Bloom's syndrome gene product is homologous to RecQ helicases
    • N.A. Ellis, J. Groden, T.Z. Ye The Bloom's syndrome gene product is homologous to RecQ helicases Cell 83 1995 655 666
    • (1995) Cell , vol.83 , pp. 655-666
    • Ellis, N.A.1    Groden, J.2    Ye, T.Z.3
  • 130
    • 0032964641 scopus 로고    scopus 로고
    • The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells
    • N.F. Neff, N.A. Ellis, T.Z. Ye The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells Mol Biol Cell 10 1999 665 676
    • (1999) Mol Biol Cell , vol.10 , pp. 665-676
    • Neff, N.F.1    Ellis, N.A.2    Ye, T.Z.3
  • 131
    • 0037202608 scopus 로고    scopus 로고
    • Recombinational DNA repair and human disease
    • L.H. Thompson, D. Schild Recombinational DNA repair and human disease Mutat Res 509 2002 49 78
    • (2002) Mutat Res , vol.509 , pp. 49-78
    • Thompson, L.H.1    Schild, D.2
  • 132
    • 18544386262 scopus 로고    scopus 로고
    • BLM heterozygosity and the risk of colorectal cancer
    • S.B. Gruber, N.A. Ellis, K.K. Scott BLM heterozygosity and the risk of colorectal cancer Science 297 2002 2013
    • (2002) Science , vol.297 , pp. 2013
    • Gruber, S.B.1    Ellis, N.A.2    Scott, K.K.3
  • 133
    • 0344953576 scopus 로고    scopus 로고
    • Heterozygosity for the BLM(Ash) mutation and cancer risk
    • S.P. Cleary, W. Zhang, N. Di Nicola Heterozygosity for the BLM(Ash) mutation and cancer risk Cancer Res 63 2003 1769 1771
    • (2003) Cancer Res , vol.63 , pp. 1769-1771
    • Cleary, S.P.1    Zhang, W.2    Di Nicola, N.3
  • 134
    • 16944365288 scopus 로고    scopus 로고
    • Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
    • S.J. Laken, G.M. Petersen, S.B. Gruber Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC Nat Genet 17 1997 79 83
    • (1997) Nat Genet , vol.17 , pp. 79-83
    • Laken, S.J.1    Petersen, G.M.2    Gruber, S.B.3
  • 135
    • 10744222509 scopus 로고    scopus 로고
    • The I1307K adenomatous polyposis coli gene variant does not contribute in the assessment of the risk for colorectal cancer in Ashkenazi Jews
    • H. Strul, E. Barenboim, M. Leshno The I1307K adenomatous polyposis coli gene variant does not contribute in the assessment of the risk for colorectal cancer in Ashkenazi Jews Cancer Epidemiol Biomarkers Prev 12 2003 1012 1015
    • (2003) Cancer Epidemiol Biomarkers Prev , vol.12 , pp. 1012-1015
    • Strul, H.1    Barenboim, E.2    Leshno, M.3
  • 136
    • 0033069722 scopus 로고    scopus 로고
    • Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism
    • R. Gryfe, N. Di Nicola, G. Lal Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism Am J Hum Genet 64 1999 378 384
    • (1999) Am J Hum Genet , vol.64 , pp. 378-384
    • Gryfe, R.1    Di Nicola, N.2    Lal, G.3
  • 137
    • 0022649771 scopus 로고
    • Colorectal tumor screening in women with a past history of breast, uterine, or ovarian malignancies
    • P. Rozen, Z. Fireman, A. Figer Colorectal tumor screening in women with a past history of breast, uterine, or ovarian malignancies Cancer 57 1986 1235 1239
    • (1986) Cancer , vol.57 , pp. 1235-1239
    • Rozen, P.1    Fireman, Z.2    Figer, A.3
  • 138
    • 0028234256 scopus 로고
    • Are women with breast, endometrial, or ovarian cancer at increased risk for colorectal cancer?
    • R.E. Schoen, J.L. Weissfeld, L.H. Kuller Are women with breast, endometrial, or ovarian cancer at increased risk for colorectal cancer? Am J Gastroenterol 89 1994 835 842
    • (1994) Am J Gastroenterol , vol.89 , pp. 835-842
    • Schoen, R.E.1    Weissfeld, J.L.2    Kuller, L.H.3
  • 139
    • 0032527873 scopus 로고    scopus 로고
    • Loss of heterozygosity in the region including the BRCA1 gene on 17q in colon cancer
    • E. Garcia-Patino, B. Gomendio, M. Lleonart Loss of heterozygosity in the region including the BRCA1 gene on 17q in colon cancer Cancer Genet Cytogenet 104 1998 119 123
    • (1998) Cancer Genet Cytogenet , vol.104 , pp. 119-123
    • Garcia-Patino, E.1    Gomendio, B.2    Lleonart, M.3
  • 140
    • 0037169354 scopus 로고    scopus 로고
    • Cancer susceptibility and the functions of BRCA1 and BRCA2
    • A.R. Venkitaraman Cancer susceptibility and the functions of BRCA1 and BRCA2 Cell 108 2002 171 182
    • (2002) Cell , vol.108 , pp. 171-182
    • Venkitaraman, A.R.1
  • 141
    • 0028330276 scopus 로고
    • Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium
    • D. Ford, D.F. Easton, D.T. Bishop Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium Lancet 343 1994 692 695
    • (1994) Lancet , vol.343 , pp. 692-695
    • Ford, D.1    Easton, D.F.2    Bishop, D.T.3
  • 142
    • 0037130889 scopus 로고    scopus 로고
    • Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program
    • M.S. Brose, T.R. Rebbeck, K.A. Calzone Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program J Natl Cancer Inst 94 2002 1365 1372
    • (2002) J Natl Cancer Inst , vol.94 , pp. 1365-1372
    • Brose, M.S.1    Rebbeck, T.R.2    Calzone, K.A.3
  • 143
    • 0032794999 scopus 로고    scopus 로고
    • Incidence of malignant tumours in relatives of BRCA1 and BRCA2 germline mutation carriers
    • O. Johannsson, N. Loman, T. Moller Incidence of malignant tumours in relatives of BRCA1 and BRCA2 germline mutation carriers Eur J Cancer 35 1999 1248 1257
    • (1999) Eur J Cancer , vol.35 , pp. 1248-1257
    • Johannsson, O.1    Loman, N.2    Moller, T.3
  • 144
    • 0035106968 scopus 로고    scopus 로고
    • The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients
    • R. Chen-Shtoyerman, A. Figer, H.H. Fidder The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients Br J Cancer 84 2001 475 477
    • (2001) Br J Cancer , vol.84 , pp. 475-477
    • Chen-Shtoyerman, R.1    Figer, A.2    Fidder, H.H.3
  • 145
    • 0034574643 scopus 로고    scopus 로고
    • Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked to BRCA1, fails to support a role for BRCA1 in colorectal tumorigenesis
    • T. Peelen, W. de Leeuw, K. van Lent Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked to BRCA1, fails to support a role for BRCA1 in colorectal tumorigenesis Int J Cancer 88 2000 778 782
    • (2000) Int J Cancer , vol.88 , pp. 778-782
    • Peelen, T.1    De Leeuw, W.2    Van Lent, K.3
  • 146
    • 0842302522 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer
    • B.L. Niell, G. Rennert, J.D. Bonner BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer J Natl Cancer Inst 96 2004 15 21
    • (2004) J Natl Cancer Inst , vol.96 , pp. 15-21
    • Niell, B.L.1    Rennert, G.2    Bonner, J.D.3
  • 147
    • 10744225854 scopus 로고    scopus 로고
    • Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer
    • T. Kirchhoff, J.M. Satagopan, N.D. Kauff Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer J Natl Cancer Inst 96 2004 68 70
    • (2004) J Natl Cancer Inst , vol.96 , pp. 68-70
    • Kirchhoff, T.1    Satagopan, J.M.2    Kauff, N.D.3
  • 148
    • 0029862873 scopus 로고    scopus 로고
    • Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis
    • H.F. Vasen, J.T. Wijnen, F.H. Menko Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis Gastroenterology 110 1996 1020 1027
    • (1996) Gastroenterology , vol.110 , pp. 1020-1027
    • Vasen, H.F.1    Wijnen, J.T.2    Menko, F.H.3
  • 149
    • 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
  • 151
    • 0021261655 scopus 로고
    • Familial juvenile polyposis coli; Increased risk of colorectal cancer
    • H. Jarvinen, K.O. Franssila Familial juvenile polyposis coli; increased risk of colorectal cancer Gut 25 1984 792 800
    • (1984) Gut , vol.25 , pp. 792-800
    • Jarvinen, H.1    Franssila, K.O.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.