메뉴 건너뛰기




Volumn 24, Issue 5, 2010, Pages 837-859

Clinical genetics of hereditary colorectal cancer

Author keywords

Colorectal cancer; Genetics; Germline; Hereditary; Lynch syndrome; Mismatch repair

Indexed keywords

ACETYLSALICYLIC ACID; ANTINEOPLASTIC AGENT; CELECOXIB; CYCLOOXYGENASE 2 INHIBITOR; FLUOROURACIL; FOLINIC ACID; IRINOTECAN; MAMMALIAN TARGET OF RAPAMYCIN INHIBITOR; NICOTINAMIDE ADENINE DINUCLEOTIDE ADENOSINE DIPHOSPHATE RIBOSYLTRANSFERASE INHIBITOR; NONSTEROID ANTIINFLAMMATORY AGENT; OXALIPLATIN; PROTEIN MLH1; PROTEIN MSH2;

EID: 77956306344     PISSN: 08898588     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hoc.2010.06.006     Document Type: Review
Times cited : (30)

References (134)
  • 3
    • 34848926020 scopus 로고    scopus 로고
    • Recently identified colon cancer predispositions: MYH and MSH6 mutations
    • Kastrinos F., Syngal S. Recently identified colon cancer predispositions: MYH and MSH6 mutations. Semin Oncol 2007, 34:418-424.
    • (2007) Semin Oncol , vol.34 , pp. 418-424
    • Kastrinos, F.1    Syngal, S.2
  • 5
    • 0027942094 scopus 로고
    • A prospective study of family history and the risk of colorectal cancer
    • Fuchs C.S., Giovannucci E.L., Colditz G.A., et al. A prospective study of family history and the risk of colorectal cancer. N Engl J Med 1994, 331:1669-1674.
    • (1994) N Engl J Med , vol.331 , pp. 1669-1674
    • Fuchs, C.S.1    Giovannucci, E.L.2    Colditz, G.A.3
  • 6
    • 72449176846 scopus 로고    scopus 로고
    • Molecular origins of cancer: molecular basis of colorectal cancer
    • Markowitz S.D., Bertagnolli M.M. Molecular origins of cancer: molecular basis of colorectal cancer. N Engl J Med 2009, 361:2449-2460.
    • (2009) N Engl J Med , vol.361 , pp. 2449-2460
    • Markowitz, S.D.1    Bertagnolli, M.M.2
  • 7
    • 16544373789 scopus 로고    scopus 로고
    • MSH6 mutations in hereditary nonpolyposis colon cancer: another slice of the pie
    • Offit K. MSH6 mutations in hereditary nonpolyposis colon cancer: another slice of the pie. J Clin Oncol 2004, 22:4449-4451.
    • (2004) J Clin Oncol , vol.22 , pp. 4449-4451
    • Offit, K.1
  • 8
    • 14644396669 scopus 로고    scopus 로고
    • Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium
    • Plaschke J., Engel C., Kruger S., et al. Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. J Clin Oncol 2004, 22:4486-4494.
    • (2004) J Clin Oncol , vol.22 , pp. 4486-4494
    • Plaschke, J.1    Engel, C.2    Kruger, S.3
  • 9
    • 48549099663 scopus 로고    scopus 로고
    • The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    • Senter L., Clendenning M., Sotamaa K., et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008, 135:419-428.
    • (2008) Gastroenterology , vol.135 , pp. 419-428
    • Senter, L.1    Clendenning, M.2    Sotamaa, K.3
  • 10
    • 0037447157 scopus 로고    scopus 로고
    • The role of hMLH3 in familial colorectal cancer
    • Liu H.X., Zhou X.L., Liu T., et al. The role of hMLH3 in familial colorectal cancer. Cancer Res 2003, 63:1894-1899.
    • (2003) Cancer Res , vol.63 , pp. 1894-1899
    • Liu, H.X.1    Zhou, X.L.2    Liu, T.3
  • 11
    • 0027933070 scopus 로고
    • Mutations of two PMS homologues in hereditary nonpolyposis colon cancer
    • Nicolaides N.C., Papadopoulos N., Liu B., et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994, 371:75-80.
    • (1994) Nature , vol.371 , pp. 75-80
    • Nicolaides, N.C.1    Papadopoulos, N.2    Liu, B.3
  • 12
    • 0025848680 scopus 로고
    • The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
    • Vasen H.F., Mecklin J.P., Khan P.M., et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991, 34:424-425.
    • (1991) Dis Colon Rectum , vol.34 , pp. 424-425
    • Vasen, H.F.1    Mecklin, J.P.2    Khan, P.M.3
  • 13
    • 0033063711 scopus 로고    scopus 로고
    • New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC
    • Vasen H.F., Watson P., Mecklin J.P., et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999, 116:1453-1456.
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3
  • 14
    • 59849129653 scopus 로고    scopus 로고
    • EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome
    • Palomaki G.E., McClain M.R., Melillo S., et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med 2009, 11:42-65.
    • (2009) Genet Med , vol.11 , pp. 42-65
    • Palomaki, G.E.1    McClain, M.R.2    Melillo, S.3
  • 15
    • 62349128915 scopus 로고    scopus 로고
    • Prediction of Lynch syndrome in consecutive patients with colorectal cancer
    • Green R.C., Parfrey P.S., Woods M.O., et al. Prediction of Lynch syndrome in consecutive patients with colorectal cancer. J Natl Cancer Inst 2009, 101:331-340.
    • (2009) J Natl Cancer Inst , vol.101 , pp. 331-340
    • Green, R.C.1    Parfrey, P.S.2    Woods, M.O.3
  • 16
    • 67449139111 scopus 로고    scopus 로고
    • Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome
    • Kratz C.P., Holter S., Etzler J., et al. Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. J Med Genet 2009, 46:418-420.
    • (2009) J Med Genet , vol.46 , pp. 418-420
    • Kratz, C.P.1    Holter, S.2    Etzler, J.3
  • 17
    • 0034585282 scopus 로고    scopus 로고
    • Familial colorectal cancer: pathology and molecular characteristics
    • Jass J.R. Familial colorectal cancer: pathology and molecular characteristics. Lancet Oncol 2000, 1:220-226.
    • (2000) Lancet Oncol , vol.1 , pp. 220-226
    • Jass, J.R.1
  • 18
    • 0032534069 scopus 로고    scopus 로고
    • A National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer
    • Boland C.R., Thibodeau S.N., Hamilton S.R., et al. A National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998, 58:5248-5257.
    • (1998) Cancer Res , vol.58 , pp. 5248-5257
    • Boland, C.R.1    Thibodeau, S.N.2    Hamilton, S.R.3
  • 19
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • Umar A., Boland C.R., Terdiman J.P., et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004, 96:261-268.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 20
    • 77956312664 scopus 로고    scopus 로고
    • Epimutations and cancer predisposition: importance and mechanisms
    • Hesson L.B., Hitchins M.P., Ward R.L. Epimutations and cancer predisposition: importance and mechanisms. Curr Opin Genet Dev 2010, 31:31.
    • (2010) Curr Opin Genet Dev , vol.31 , pp. 31
    • Hesson, L.B.1    Hitchins, M.P.2    Ward, R.L.3
  • 21
    • 0032146118 scopus 로고    scopus 로고
    • Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability
    • Cunningham J.M., Christensen E.R., Tester D.J., et al. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 1998, 58:3455-3460.
    • (1998) Cancer Res , vol.58 , pp. 3455-3460
    • Cunningham, J.M.1    Christensen, E.R.2    Tester, D.J.3
  • 22
    • 77949270273 scopus 로고    scopus 로고
    • Microsatellite instability in colorectal cancer-the stable evidence
    • Vilar E., Gruber S.B. Microsatellite instability in colorectal cancer-the stable evidence. Nat Rev Clin Oncol 2010, 7:153-162.
    • (2010) Nat Rev Clin Oncol , vol.7 , pp. 153-162
    • Vilar, E.1    Gruber, S.B.2
  • 23
    • 68549121184 scopus 로고    scopus 로고
    • Genetics: predictive value of KRAS mutations in chemoresistant CRC
    • Lievre A., Laurent-Puig P. Genetics: predictive value of KRAS mutations in chemoresistant CRC. Nat Rev Clin Oncol 2009, 6:306-307.
    • (2009) Nat Rev Clin Oncol , vol.6 , pp. 306-307
    • Lievre, A.1    Laurent-Puig, P.2
  • 24
    • 0037194728 scopus 로고    scopus 로고
    • Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status
    • Rajagopalan H., Bardelli A., Lengauer C., et al. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature 2002, 418:934.
    • (2002) Nature , vol.418 , pp. 934
    • Rajagopalan, H.1    Bardelli, A.2    Lengauer, C.3
  • 25
    • 34547405167 scopus 로고    scopus 로고
    • Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer
    • Loughrey M.B., Waring P.M., Tan A., et al. Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Fam Cancer 2007, 6:301-310.
    • (2007) Fam Cancer , vol.6 , pp. 301-310
    • Loughrey, M.B.1    Waring, P.M.2    Tan, A.3
  • 26
    • 70350111184 scopus 로고    scopus 로고
    • Genetic and epigenetic classifications define clinical phenotypes and determine patient outcomes in colorectal cancer
    • Sanchez J.A., Krumroy L., Plummer S., et al. Genetic and epigenetic classifications define clinical phenotypes and determine patient outcomes in colorectal cancer. Br J Surg 2009, 96:1196-1204.
    • (2009) Br J Surg , vol.96 , pp. 1196-1204
    • Sanchez, J.A.1    Krumroy, L.2    Plummer, S.3
  • 27
    • 58249089525 scopus 로고    scopus 로고
    • CpG island methylator phenotype, microsatellite instability, BRAF mutation and clinical outcome in colon cancer
    • Ogino S., Nosho K., Kirkner G.J., et al. CpG island methylator phenotype, microsatellite instability, BRAF mutation and clinical outcome in colon cancer. Gut 2009, 58:90-96.
    • (2009) Gut , vol.58 , pp. 90-96
    • Ogino, S.1    Nosho, K.2    Kirkner, G.J.3
  • 28
    • 58149144567 scopus 로고    scopus 로고
    • Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1
    • Ligtenberg M.J., Kuiper R.P., Chan T.L., et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet 2009, 41:112-117.
    • (2009) Nat Genet , vol.41 , pp. 112-117
    • Ligtenberg, M.J.1    Kuiper, R.P.2    Chan, T.L.3
  • 29
    • 59749085710 scopus 로고    scopus 로고
    • Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome
    • Kovacs M.E., Papp J., Szentirmay Z., et al. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat 2009, 30:197-203.
    • (2009) Hum Mutat , vol.30 , pp. 197-203
    • Kovacs, M.E.1    Papp, J.2    Szentirmay, Z.3
  • 30
    • 67650383819 scopus 로고    scopus 로고
    • Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome
    • Niessen R.C., Hofstra R.M., Westers H., et al. Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes Cancer 2009, 48:737-744.
    • (2009) Genes Chromosomes Cancer , vol.48 , pp. 737-744
    • Niessen, R.C.1    Hofstra, R.M.2    Westers, H.3
  • 31
    • 77951049336 scopus 로고    scopus 로고
    • Somatic hypermethylation of MSH2 is a frequent event in lynch syndrome colorectal cancers
    • Nagasaka T., Rhees J., Kloor M., et al. Somatic hypermethylation of MSH2 is a frequent event in lynch syndrome colorectal cancers. Cancer Res 2010, 70:3098-3108.
    • (2010) Cancer Res , vol.70 , pp. 3098-3108
    • Nagasaka, T.1    Rhees, J.2    Kloor, M.3
  • 32
    • 4544310802 scopus 로고    scopus 로고
    • Mutations associated with HNPCC predisposition-update of ICG-HNPCC/INSiGHT mutation database
    • Peltomaki P., Vasen H. Mutations associated with HNPCC predisposition-update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 2004, 20:269-276.
    • (2004) Dis Markers , vol.20 , pp. 269-276
    • Peltomaki, P.1    Vasen, H.2
  • 33
    • 0037096801 scopus 로고    scopus 로고
    • Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families
    • Wahlberg S.S., Schmeits J., Thomas G., et al. Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. Cancer Res 2002, 62:3485-3492.
    • (2002) Cancer Res , vol.62 , pp. 3485-3492
    • Wahlberg, S.S.1    Schmeits, J.2    Thomas, G.3
  • 34
    • 44849098783 scopus 로고    scopus 로고
    • Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)
    • Chao E.C., Velasquez J.L., Witherspoon M.S., et al. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Hum Mutat 2008, 29:852-860.
    • (2008) Hum Mutat , vol.29 , pp. 852-860
    • Chao, E.C.1    Velasquez, J.L.2    Witherspoon, M.S.3
  • 35
    • 57449097359 scopus 로고    scopus 로고
    • Feasibility of screening for Lynch syndrome among patients with colorectal cancer
    • Hampel H., Frankel W.L., Martin E., et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008, 26:5783-5788.
    • (2008) J Clin Oncol , vol.26 , pp. 5783-5788
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 36
    • 77149122082 scopus 로고    scopus 로고
    • The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer
    • Mvundura M., Grosse S.D., Hampel H., et al. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med 2010, 12:93-104.
    • (2010) Genet Med , vol.12 , pp. 93-104
    • Mvundura, M.1    Grosse, S.D.2    Hampel, H.3
  • 37
    • 3242686837 scopus 로고    scopus 로고
    • BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum
    • Kambara T., Simms L.A., Whitehall V.L., et al. BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum. Gut 2004, 53:1137-1144.
    • (2004) Gut , vol.53 , pp. 1137-1144
    • Kambara, T.1    Simms, L.A.2    Whitehall, V.L.3
  • 38
    • 43649096338 scopus 로고    scopus 로고
    • Strategy in clinical practice for classification of unselected colorectal tumours based on mismatch repair deficiency
    • Jensen L.H., Lindebjerg J., Byriel L., et al. Strategy in clinical practice for classification of unselected colorectal tumours based on mismatch repair deficiency. Colorectal Dis 2008, 10:490-497.
    • (2008) Colorectal Dis , vol.10 , pp. 490-497
    • Jensen, L.H.1    Lindebjerg, J.2    Byriel, L.3
  • 39
    • 0032552239 scopus 로고    scopus 로고
    • Clinical findings with implications for genetic testing in families with clustering of colorectal cancer
    • Wijnen J.T., Vasen H.F., Khan P.M., et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 1998, 339:511-518.
    • (1998) N Engl J Med , vol.339 , pp. 511-518
    • Wijnen, J.T.1    Vasen, H.F.2    Khan, P.M.3
  • 40
    • 33745658837 scopus 로고    scopus 로고
    • Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer
    • Barnetson R.A., Tenesa A., Farrington S.M., et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 2006, 354:2751-2763.
    • (2006) N Engl J Med , vol.354 , pp. 2751-2763
    • Barnetson, R.A.1    Tenesa, A.2    Farrington, S.M.3
  • 41
    • 33749040947 scopus 로고    scopus 로고
    • Prediction of MLH1 and MSH2 mutations in Lynch syndrome
    • Balmana J., Stockwell D.H., Steyerberg E.W., et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 2006, 296:1469-1478.
    • (2006) JAMA , vol.296 , pp. 1469-1478
    • Balmana, J.1    Stockwell, D.H.2    Steyerberg, E.W.3
  • 42
    • 33749066191 scopus 로고    scopus 로고
    • Prediction of germline mutations and cancer risk in the Lynch syndrome
    • Chen S., Wang W., Lee S., et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006, 296:1479-1487.
    • (2006) JAMA , vol.296 , pp. 1479-1487
    • Chen, S.1    Wang, W.2    Lee, S.3
  • 43
    • 33644813813 scopus 로고    scopus 로고
    • A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability
    • Marroni F., Pastrello C., Benatti P., et al. A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability. Clin Genet 2006, 69:254-262.
    • (2006) Clin Genet , vol.69 , pp. 254-262
    • Marroni, F.1    Pastrello, C.2    Benatti, P.3
  • 44
    • 3242670404 scopus 로고    scopus 로고
    • Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance
    • Hendriks Y.M., Wagner A., Morreau H., et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 2004, 127:17-25.
    • (2004) Gastroenterology , vol.127 , pp. 17-25
    • Hendriks, Y.M.1    Wagner, A.2    Morreau, H.3
  • 45
    • 0035033581 scopus 로고    scopus 로고
    • Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree
    • Wagner A., Hendriks Y., Meijers-Heijboer E.J., et al. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet 2001, 38:318-322.
    • (2001) J Med Genet , vol.38 , pp. 318-322
    • Wagner, A.1    Hendriks, Y.2    Meijers-Heijboer, E.J.3
  • 46
    • 2442708840 scopus 로고    scopus 로고
    • Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history
    • Buttin B.M., Powell M.A., Mutch D.G., et al. Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. Am J Hum Genet 2004, 74:1262-1269.
    • (2004) Am J Hum Genet , vol.74 , pp. 1262-1269
    • Buttin, B.M.1    Powell, M.A.2    Mutch, D.G.3
  • 47
    • 34250715384 scopus 로고    scopus 로고
    • Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
    • Vasen H.F., Moslein G., Alonso A., et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 2007, 44:353-362.
    • (2007) J Med Genet , vol.44 , pp. 353-362
    • Vasen, H.F.1    Moslein, G.2    Alonso, A.3
  • 48
    • 33749067855 scopus 로고    scopus 로고
    • Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review
    • Lindor N.M., Petersen G.M., Hadley D.W., et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 2006, 296:1507-1517.
    • (2006) JAMA , vol.296 , pp. 1507-1517
    • Lindor, N.M.1    Petersen, G.M.2    Hadley, D.W.3
  • 49
    • 42949127635 scopus 로고    scopus 로고
    • Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology
    • Levin B., Lieberman D.A., McFarland B., et al. Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology. Gastroenterology 2008, 134:1570-1595.
    • (2008) Gastroenterology , vol.134 , pp. 1570-1595
    • Levin, B.1    Lieberman, D.A.2    McFarland, B.3
  • 50
    • 33644864321 scopus 로고    scopus 로고
    • Decrease in mortality in Lynch syndrome families because of surveillance
    • de Jong A.E., Hendriks Y.M., Kleibeuker J.H., et al. Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology 2006, 130:665-671.
    • (2006) Gastroenterology , vol.130 , pp. 665-671
    • de Jong, A.E.1    Hendriks, Y.M.2    Kleibeuker, J.H.3
  • 51
    • 42949177399 scopus 로고    scopus 로고
    • Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology
    • Levin B., Lieberman D.A., McFarland B., et al. Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology. CA Cancer J Clin 2008, 58:130-160.
    • (2008) CA Cancer J Clin , vol.58 , pp. 130-160
    • Levin, B.1    Lieberman, D.A.2    McFarland, B.3
  • 52
    • 33750596601 scopus 로고    scopus 로고
    • ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes
    • Guillem J.G., Wood W.C., Moley J.F., et al. ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. J Clin Oncol 2006, 24:4642-4660.
    • (2006) J Clin Oncol , vol.24 , pp. 4642-4660
    • Guillem, J.G.1    Wood, W.C.2    Moley, J.F.3
  • 53
    • 0036906436 scopus 로고    scopus 로고
    • Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families
    • de Vos tot Nederveen Cappel W.H., Nagengast F.M., Griffioen G., et al. Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families. Dis Colon Rectum 2002, 45:1588-1594.
    • (2002) Dis Colon Rectum , vol.45 , pp. 1588-1594
    • de Vos tot Nederveen Cappel, W.H.1    Nagengast, F.M.2    Griffioen, G.3
  • 54
    • 0038291695 scopus 로고    scopus 로고
    • Patterns of surgery in patients belonging to Amsterdam-positive families
    • Van Dalen R., Church J., McGannon E., et al. Patterns of surgery in patients belonging to Amsterdam-positive families. Dis Colon Rectum 2003, 46:617-620.
    • (2003) Dis Colon Rectum , vol.46 , pp. 617-620
    • Van Dalen, R.1    Church, J.2    McGannon, E.3
  • 55
    • 46649084806 scopus 로고    scopus 로고
    • Segmental vs. extended colectomy: measurable differences in morbidity, function, and quality of life
    • You Y.N., Chua H.K., Nelson H., et al. Segmental vs. extended colectomy: measurable differences in morbidity, function, and quality of life. Dis Colon Rectum 2008, 51:1036-1043.
    • (2008) Dis Colon Rectum , vol.51 , pp. 1036-1043
    • You, Y.N.1    Chua, H.K.2    Nelson, H.3
  • 56
    • 77949911454 scopus 로고    scopus 로고
    • Decision model of segmental compared with total abdominal colectomy for colon cancer in hereditary nonpolyposis colorectal cancer
    • Maeda T., Cannom R.R., Beart R.W., et al. Decision model of segmental compared with total abdominal colectomy for colon cancer in hereditary nonpolyposis colorectal cancer. J Clin Oncol 2010, 28:1175-1180.
    • (2010) J Clin Oncol , vol.28 , pp. 1175-1180
    • Maeda, T.1    Cannom, R.R.2    Beart, R.W.3
  • 57
    • 10744233669 scopus 로고    scopus 로고
    • Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect
    • de Vos tot Nederveen Cappel W.H., Buskens E., van Duijvendijk P., et al. Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect. Gut 2003, 52:1752-1755.
    • (2003) Gut , vol.52 , pp. 1752-1755
    • de Vos tot Nederveen Cappel, W.H.1    Buskens, E.2    van Duijvendijk, P.3
  • 58
    • 2542615200 scopus 로고    scopus 로고
    • Oxaliplatin, fluorouracil, and leucovorin as adjuvant treatment for colon cancer
    • Andre T., Boni C., Mounedji-Boudiaf L., et al. Oxaliplatin, fluorouracil, and leucovorin as adjuvant treatment for colon cancer. N Engl J Med 2004, 350:2343-2351.
    • (2004) N Engl J Med , vol.350 , pp. 2343-2351
    • Andre, T.1    Boni, C.2    Mounedji-Boudiaf, L.3
  • 59
    • 1342290189 scopus 로고    scopus 로고
    • FOLFIRI followed by FOLFOX6 or the reverse sequence in advanced colorectal cancer: a randomized GERCOR study
    • Tournigand C., Andre T., Achille E., et al. FOLFIRI followed by FOLFOX6 or the reverse sequence in advanced colorectal cancer: a randomized GERCOR study. J Clin Oncol 2004, 22:229-237.
    • (2004) J Clin Oncol , vol.22 , pp. 229-237
    • Tournigand, C.1    Andre, T.2    Achille, E.3
  • 60
    • 34447121322 scopus 로고    scopus 로고
    • Reduced likelihood of metastases in patients with microsatellite-unstable colorectal cancer
    • Malesci A., Laghi L., Bianchi P., et al. Reduced likelihood of metastases in patients with microsatellite-unstable colorectal cancer. Clin Cancer Res 2007, 13:3831-3839.
    • (2007) Clin Cancer Res , vol.13 , pp. 3831-3839
    • Malesci, A.1    Laghi, L.2    Bianchi, P.3
  • 61
    • 14544300998 scopus 로고    scopus 로고
    • Systematic review of microsatellite instability and colorectal cancer prognosis
    • Popat S., Hubner R., Houlston R.S. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005, 23:609-618.
    • (2005) J Clin Oncol , vol.23 , pp. 609-618
    • Popat, S.1    Hubner, R.2    Houlston, R.S.3
  • 62
    • 75749102647 scopus 로고    scopus 로고
    • Prognostic role of KRAS and BRAF in stage II and III resected colon cancer: results of the translational study on the PETACC-3, EORTC 40993, SAKK 60-00 trial
    • Roth A.D., Tejpar S., Delorenzi M., et al. Prognostic role of KRAS and BRAF in stage II and III resected colon cancer: results of the translational study on the PETACC-3, EORTC 40993, SAKK 60-00 trial. J Clin Oncol 2010, 28:466-474.
    • (2010) J Clin Oncol , vol.28 , pp. 466-474
    • Roth, A.D.1    Tejpar, S.2    Delorenzi, M.3
  • 63
    • 0038002279 scopus 로고    scopus 로고
    • Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer
    • Ribic C.M., Sargent D.J., Moore M.J., et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003, 349:247-257.
    • (2003) N Engl J Med , vol.349 , pp. 247-257
    • Ribic, C.M.1    Sargent, D.J.2    Moore, M.J.3
  • 64
    • 0037145305 scopus 로고    scopus 로고
    • High-frequency microsatellite instability predicts better chemosensitivity to high-dose 5-fluorouracil plus leucovorin chemotherapy for stage IV sporadic colorectal cancer after palliative bowel resection
    • Liang J.T., Huang K.C., Lai H.S., et al. High-frequency microsatellite instability predicts better chemosensitivity to high-dose 5-fluorouracil plus leucovorin chemotherapy for stage IV sporadic colorectal cancer after palliative bowel resection. Int J Cancer 2002, 101:519-525.
    • (2002) Int J Cancer , vol.101 , pp. 519-525
    • Liang, J.T.1    Huang, K.C.2    Lai, H.S.3
  • 65
    • 77956333225 scopus 로고    scopus 로고
    • Confirmation of deficient mismatch repair (dMMR) as a predictive marker for lack of benefit from 5-FU based chemotherapy in stage II and III colon cancer (CC):
    • American Society of Clinical Oncology Annual Meeting
    • Sargent DJ, Marsoni S, Thibodeau SN, et al. Confirmation of deficient mismatch repair (dMMR) as a predictive marker for lack of benefit from 5-FU based chemotherapy in stage II and III colon cancer (CC): a pooled molecular reanalysis of randomized chemotherapy trials [abstract #4008]. American Society of Clinical Oncology Annual Meeting 2008.
    • (2008) a pooled molecular reanalysis of randomized chemotherapy trials [abstract #4008]
    • Sargent, D.J.1    Marsoni, S.2    Thibodeau, S.N.3
  • 66
    • 64649096900 scopus 로고    scopus 로고
    • Microsatellite instability predicts improved response to adjuvant therapy with irinotecan, fluorouracil, and leucovorin in stage III colon cancer: cancer and leukemia Group B Protocol 89803
    • Bertagnolli M.M., Niedzwiecki D., Compton C.C., et al. Microsatellite instability predicts improved response to adjuvant therapy with irinotecan, fluorouracil, and leucovorin in stage III colon cancer: cancer and leukemia Group B Protocol 89803. J Clin Oncol 2009, 27:1814-1821.
    • (2009) J Clin Oncol , vol.27 , pp. 1814-1821
    • Bertagnolli, M.M.1    Niedzwiecki, D.2    Compton, C.C.3
  • 67
    • 78149357041 scopus 로고    scopus 로고
    • Clinical impact of microsatellite instability in colon cancer following adjuvant FOLFOX therapy
    • Kim S.T., Lee J., Park S.H., et al. Clinical impact of microsatellite instability in colon cancer following adjuvant FOLFOX therapy. Cancer Chemother Pharmacol 2009, 24:24.
    • (2009) Cancer Chemother Pharmacol , vol.24 , pp. 24
    • Kim, S.T.1    Lee, J.2    Park, S.H.3
  • 68
    • 77956318338 scopus 로고    scopus 로고
    • Preclinical testing of the PARP inhibitor ABT-888 in microsatellite instable colorectal cancer [abstract #11028]
    • American Society of Clinical Oncology Annual Meeting
    • Vilar Sanchez E, Chow A, Raskin L, et al. Preclinical testing of the PARP inhibitor ABT-888 in microsatellite instable colorectal cancer [abstract #11028]. American Society of Clinical Oncology Annual Meeting 2009.
    • (2009)
    • Vilar Sanchez, E.1    Chow, A.2    Raskin, L.3
  • 69
    • 57749107623 scopus 로고    scopus 로고
    • Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome
    • Burn J., Bishop D.T., Mecklin J.P., et al. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med 2008, 359:2567-2578.
    • (2008) N Engl J Med , vol.359 , pp. 2567-2578
    • Burn, J.1    Bishop, D.T.2    Mecklin, J.P.3
  • 70
    • 33748517838 scopus 로고    scopus 로고
    • Effect of celecoxib on cardiovascular events and blood pressure in two trials for the prevention of colorectal adenomas
    • Solomon S.D., Pfeffer M.A., McMurray J.J., et al. Effect of celecoxib on cardiovascular events and blood pressure in two trials for the prevention of colorectal adenomas. Circulation 2006, 114:1028-1035.
    • (2006) Circulation , vol.114 , pp. 1028-1035
    • Solomon, S.D.1    Pfeffer, M.A.2    McMurray, J.J.3
  • 71
    • 3242802235 scopus 로고    scopus 로고
    • Papillary thyroid carcinoma associated with familial adenomatous polyposis: molecular analysis of pathogenesis in a family and review of the literature
    • Lee S., Hong S.W., Shin S.J., et al. Papillary thyroid carcinoma associated with familial adenomatous polyposis: molecular analysis of pathogenesis in a family and review of the literature. Endocr J 2004, 51:317-323.
    • (2004) Endocr J , vol.51 , pp. 317-323
    • Lee, S.1    Hong, S.W.2    Shin, S.J.3
  • 72
    • 0026001932 scopus 로고
    • Risk of hepatoblastoma in familial adenomatous polyposis
    • Giardiello F.M., Offerhaus G.J., Krush A.J., et al. Risk of hepatoblastoma in familial adenomatous polyposis. J Pediatr 1991, 119:766-768.
    • (1991) J Pediatr , vol.119 , pp. 766-768
    • Giardiello, F.M.1    Offerhaus, G.J.2    Krush, A.J.3
  • 73
    • 31944448351 scopus 로고    scopus 로고
    • Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts
    • Bisgaard M.L., Bulow S. Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Am J Med Genet A 2006, 140:200-204.
    • (2006) Am J Med Genet A , vol.140 , pp. 200-204
    • Bisgaard, M.L.1    Bulow, S.2
  • 75
    • 0034098691 scopus 로고    scopus 로고
    • Biology of the adenomatous polyposis coli tumor suppressor
    • Goss K.H., Groden J. Biology of the adenomatous polyposis coli tumor suppressor. J Clin Oncol 2000, 18:1967-1979.
    • (2000) J Clin Oncol , vol.18 , pp. 1967-1979
    • Goss, K.H.1    Groden, J.2
  • 76
    • 15044348490 scopus 로고    scopus 로고
    • The links between axin and carcinogenesis
    • Salahshor S., Woodgett J.R. The links between axin and carcinogenesis. J Clin Pathol 2005, 58:225-236.
    • (2005) J Clin Pathol , vol.58 , pp. 225-236
    • Salahshor, S.1    Woodgett, J.R.2
  • 77
    • 2642698862 scopus 로고    scopus 로고
    • APC gene: database of germline and somatic mutations in human tumors and cell lines
    • Laurent-Puig P., Beroud C., Soussi T. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 1998, 26:269-270.
    • (1998) Nucleic Acids Res , vol.26 , pp. 269-270
    • Laurent-Puig, P.1    Beroud, C.2    Soussi, T.3
  • 78
    • 47949122502 scopus 로고    scopus 로고
    • Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome
    • vii
    • Al-Sukhni W., Aronson M., Gallinger S. Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome. Surg Clin North Am 2008, 88:819-844. vii.
    • (2008) Surg Clin North Am , vol.88 , pp. 819-844
    • Al-Sukhni, W.1    Aronson, M.2    Gallinger, S.3
  • 79
    • 0032947835 scopus 로고    scopus 로고
    • Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition
    • Wallis Y.L., Morton D.G., McKeown C.M., et al. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet 1999, 36:14-20.
    • (1999) J Med Genet , vol.36 , pp. 14-20
    • Wallis, Y.L.1    Morton, D.G.2    McKeown, C.M.3
  • 80
    • 0028213461 scopus 로고
    • Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer
    • Caspari R., Friedl W., Mandl M., et al. Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet 1994, 343:629-632.
    • (1994) Lancet , vol.343 , pp. 629-632
    • Caspari, R.1    Friedl, W.2    Mandl, M.3
  • 81
    • 0035173781 scopus 로고    scopus 로고
    • Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes
    • Houlston R., Crabtree M., Phillips R., et al. Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes. Gut 2001, 48:1-5.
    • (2001) Gut , vol.48 , pp. 1-5
    • Houlston, R.1    Crabtree, M.2    Phillips, R.3
  • 82
    • 0036719949 scopus 로고    scopus 로고
    • Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes
    • Crabtree M.D., Tomlinson I.P., Hodgson S.V., et al. Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes. Gut 2002, 51:420-423.
    • (2002) Gut , vol.51 , pp. 420-423
    • Crabtree, M.D.1    Tomlinson, I.P.2    Hodgson, S.V.3
  • 83
    • 4944240144 scopus 로고    scopus 로고
    • Genetic predisposition to colorectal cancer
    • de la Chapelle A. Genetic predisposition to colorectal cancer. Nat Rev Cancer 2004, 4:769-780.
    • (2004) Nat Rev Cancer , vol.4 , pp. 769-780
    • de la Chapelle, A.1
  • 84
    • 18444373278 scopus 로고    scopus 로고
    • Hereditary colorectal cancer-part II
    • Merg A., Lynch H.T., Lynch J.F., et al. Hereditary colorectal cancer-part II. Curr Probl Surg 2005, 42:267-333.
    • (2005) Curr Probl Surg , vol.42 , pp. 267-333
    • Merg, A.1    Lynch, H.T.2    Lynch, J.F.3
  • 85
    • 77956320853 scopus 로고    scopus 로고
    • National Comprehensive Cancer Network. National Comprehensive Cancer Network - guidelines for detection, prevention, risk reduction: colorectal cancer screening;
    • National Comprehensive Cancer Network. National Comprehensive Cancer Network - guidelines for detection, prevention, risk reduction: colorectal cancer screening; 2010.
    • (2010)
  • 86
    • 42549165647 scopus 로고    scopus 로고
    • Guidelines for the clinical management of familial adenomatous polyposis (FAP)
    • Vasen H.F., Moslein G., Alonso A., et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008, 57:704-713.
    • (2008) Gut , vol.57 , pp. 704-713
    • Vasen, H.F.1    Moslein, G.2    Alonso, A.3
  • 87
    • 0034465534 scopus 로고    scopus 로고
    • Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis
    • Bulow C., Vasen H., Jarvinen H., et al. Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis. Gastroenterology 2000, 119:1454-1460.
    • (2000) Gastroenterology , vol.119 , pp. 1454-1460
    • Bulow, C.1    Vasen, H.2    Jarvinen, H.3
  • 88
    • 0036896197 scopus 로고    scopus 로고
    • Serrated adenomas in FAP. Familial adenomatous polyposis
    • author reply 896
    • Gallagher M.C., Phillips R.K. Serrated adenomas in FAP. Familial adenomatous polyposis. Gut 2002, 51:895-896. author reply 896.
    • (2002) Gut , vol.51 , pp. 895-896
    • Gallagher, M.C.1    Phillips, R.K.2
  • 89
    • 1542541519 scopus 로고    scopus 로고
    • Chemoprevention strategies using NSAIDs and COX-2 inhibitors
    • Keller J.J., Giardiello F.M. Chemoprevention strategies using NSAIDs and COX-2 inhibitors. Cancer Biol Ther 2003, 2:S140-S149.
    • (2003) Cancer Biol Ther , vol.2
    • Keller, J.J.1    Giardiello, F.M.2
  • 90
    • 4243328686 scopus 로고    scopus 로고
    • [Rectal carcinoma in a patient with familial adenomatous polyposis coli after colectomy with ileorectal anastomosis and consecutive chemoprevention with sulindac suppositories]
    • [in German]
    • Utech M., Bruwer M., Buerger H., et al. Chirurg 2002, 73:855-858. [in German].
    • (2002) Chirurg , vol.73 , pp. 855-858
    • Utech, M.1    Bruwer, M.2    Buerger, H.3
  • 91
    • 26444452200 scopus 로고    scopus 로고
    • Genetic polymorphisms of flavin monooxygenase 3 in sulindac-induced regression of colorectal adenomas in familial adenomatous polyposis
    • Hisamuddin I.M., Wehbi M.A., Schmotzer B., et al. Genetic polymorphisms of flavin monooxygenase 3 in sulindac-induced regression of colorectal adenomas in familial adenomatous polyposis. Cancer Epidemiol Biomarkers Prev 2005, 14:2366-2369.
    • (2005) Cancer Epidemiol Biomarkers Prev , vol.14 , pp. 2366-2369
    • Hisamuddin, I.M.1    Wehbi, M.A.2    Schmotzer, B.3
  • 92
    • 17144362799 scopus 로고    scopus 로고
    • Oral contraceptives and polyp regression in familial adenomatous polyposis
    • Giardiello F.M., Hylind L.M., Trimbath J.D., et al. Oral contraceptives and polyp regression in familial adenomatous polyposis. Gastroenterology 2005, 128:1077-1080.
    • (2005) Gastroenterology , vol.128 , pp. 1077-1080
    • Giardiello, F.M.1    Hylind, L.M.2    Trimbath, J.D.3
  • 93
    • 24944588840 scopus 로고    scopus 로고
    • Regression of colorectal adenomas with intravenous cytotoxic chemotherapy in a patient with familial adenomatous polyposis
    • Jones D.H., Silberstein P.T., Lynch H., et al. Regression of colorectal adenomas with intravenous cytotoxic chemotherapy in a patient with familial adenomatous polyposis. J Clin Oncol 2005, 23:6278-6280.
    • (2005) J Clin Oncol , vol.23 , pp. 6278-6280
    • Jones, D.H.1    Silberstein, P.T.2    Lynch, H.3
  • 94
    • 0037961628 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis (AFAP). A review of the literature
    • Knudsen A.L., Bisgaard M.L., Bulow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer 2003, 2:43-55.
    • (2003) Fam Cancer , vol.2 , pp. 43-55
    • Knudsen, A.L.1    Bisgaard, M.L.2    Bulow, S.3
  • 95
    • 0036141958 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis: an evolving and poorly understood entity
    • [discussion: 134-26]
    • Hernegger G.S., Moore H.G., Guillem J.G. Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum 2002, 45:127-134. [discussion: 134-26].
    • (2002) Dis Colon Rectum , vol.45 , pp. 127-134
    • Hernegger, G.S.1    Moore, H.G.2    Guillem, J.G.3
  • 96
    • 0031781181 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in attenuated adenomatous polyposis coli
    • Soravia C., Berk T., Madlensky L., et al. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 1998, 62:1290-1301.
    • (1998) Am J Hum Genet , vol.62 , pp. 1290-1301
    • Soravia, C.1    Berk, T.2    Madlensky, L.3
  • 97
    • 0032712853 scopus 로고    scopus 로고
    • Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9
    • Rozen P., Samuel Z., Shomrat R., et al. Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9. Gut 1999, 45:829-833.
    • (1999) Gut , vol.45 , pp. 829-833
    • Rozen, P.1    Samuel, Z.2    Shomrat, R.3
  • 98
    • 0028823186 scopus 로고
    • Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP
    • Lynch H.T., Smyrk T., McGinn T., et al. Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. Cancer 1995, 76:2427-2433.
    • (1995) Cancer , vol.76 , pp. 2427-2433
    • Lynch, H.T.1    Smyrk, T.2    McGinn, T.3
  • 99
    • 16944365288 scopus 로고    scopus 로고
    • Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
    • Laken S.J., Petersen G.M., Gruber S.B., et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 1997, 17:79-83.
    • (1997) Nat Genet , vol.17 , pp. 79-83
    • Laken, S.J.1    Petersen, G.M.2    Gruber, S.B.3
  • 100
    • 0033069722 scopus 로고    scopus 로고
    • Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism
    • Gryfe R., Di Nicola N., Lal G., et al. Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. Am J Hum Genet 1999, 64:378-384.
    • (1999) Am J Hum Genet , vol.64 , pp. 378-384
    • Gryfe, R.1    Di Nicola, N.2    Lal, G.3
  • 101
    • 26244444771 scopus 로고    scopus 로고
    • Correlation of polyp number and family history of colon cancer with germline MYH mutations
    • Jo W.S., Bandipalliam P., Shannon K.M., et al. Correlation of polyp number and family history of colon cancer with germline MYH mutations. Clin Gastroenterol Hepatol 2005, 3:1022-1028.
    • (2005) Clin Gastroenterol Hepatol , vol.3 , pp. 1022-1028
    • Jo, W.S.1    Bandipalliam, P.2    Shannon, K.M.3
  • 102
    • 0037468517 scopus 로고    scopus 로고
    • Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
    • Sieber O.M., Lipton L., Crabtree M., et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003, 348:791-799.
    • (2003) N Engl J Med , vol.348 , pp. 791-799
    • Sieber, O.M.1    Lipton, L.2    Crabtree, M.3
  • 103
    • 0036848267 scopus 로고    scopus 로고
    • Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G: C->T: a mutations
    • Jones S., Emmerson P., Maynard J., et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G: C->T: a mutations. Hum Mol Genet 2002, 11:2961-2967.
    • (2002) Hum Mol Genet , vol.11 , pp. 2961-2967
    • Jones, S.1    Emmerson, P.2    Maynard, J.3
  • 104
    • 7944225535 scopus 로고    scopus 로고
    • Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk
    • Croitoru M.E., Cleary S.P., Di Nicola N., et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst 2004, 96:1631-1634.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 1631-1634
    • Croitoru, M.E.1    Cleary, S.P.2    Di Nicola, N.3
  • 105
    • 33644747476 scopus 로고    scopus 로고
    • Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study
    • Jenkins M.A., Croitoru M.E., Monga N., et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev 2006, 15:312-314.
    • (2006) Cancer Epidemiol Biomarkers Prev , vol.15 , pp. 312-314
    • Jenkins, M.A.1    Croitoru, M.E.2    Monga, N.3
  • 106
    • 13244261067 scopus 로고    scopus 로고
    • The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients
    • Eliason K., Hendrickson B.C., Judkins T., et al. The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients. J Med Genet 2005, 42:95-96.
    • (2005) J Med Genet , vol.42 , pp. 95-96
    • Eliason, K.1    Hendrickson, B.C.2    Judkins, T.3
  • 107
    • 3242689475 scopus 로고    scopus 로고
    • MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps
    • Wang L., Baudhuin L.M., Boardman L.A., et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 2004, 127:9-16.
    • (2004) Gastroenterology , vol.127 , pp. 9-16
    • Wang, L.1    Baudhuin, L.M.2    Boardman, L.A.3
  • 108
    • 0037468527 scopus 로고    scopus 로고
    • Multiple colorectal adenomas-is their number up?
    • Marra G., Jiricny J. Multiple colorectal adenomas-is their number up?. N Engl J Med 2003, 348:845-847.
    • (2003) N Engl J Med , vol.348 , pp. 845-847
    • Marra, G.1    Jiricny, J.2
  • 109
    • 20544452084 scopus 로고    scopus 로고
    • Germline susceptibility to colorectal cancer due to base-excision repair gene defects
    • Farrington S.M., Tenesa A., Barnetson R., et al. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet 2005, 77:112-119.
    • (2005) Am J Hum Genet , vol.77 , pp. 112-119
    • Farrington, S.M.1    Tenesa, A.2    Barnetson, R.3
  • 110
    • 21244441064 scopus 로고    scopus 로고
    • Is prophylactic colectomy indicated in patients with MYH-associated polyposis?
    • Leite J.S., Isidro G., Martins M., et al. Is prophylactic colectomy indicated in patients with MYH-associated polyposis?. Colorectal Dis 2005, 7:327-331.
    • (2005) Colorectal Dis , vol.7 , pp. 327-331
    • Leite, J.S.1    Isidro, G.2    Martins, M.3
  • 111
    • 0036896796 scopus 로고    scopus 로고
    • Heritable colorectal cancer syndromes: recognition and preventive management
    • Boardman L.A. Heritable colorectal cancer syndromes: recognition and preventive management. Gastroenterol Clin North Am 2002, 31:1107-1131.
    • (2002) Gastroenterol Clin North Am , vol.31 , pp. 1107-1131
    • Boardman, L.A.1
  • 112
  • 113
    • 0034464147 scopus 로고    scopus 로고
    • Very high risk of cancer in familial Peutz-Jeghers syndrome
    • Giardiello F.M., Brensinger J.D., Tersmette A.C., et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000, 119:1447-1453.
    • (2000) Gastroenterology , vol.119 , pp. 1447-1453
    • Giardiello, F.M.1    Brensinger, J.D.2    Tersmette, A.C.3
  • 114
    • 33744782567 scopus 로고    scopus 로고
    • Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
    • Hearle N., Schumacher V., Menko F.H., et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 2006, 12:3209-3215.
    • (2006) Clin Cancer Res , vol.12 , pp. 3209-3215
    • Hearle, N.1    Schumacher, V.2    Menko, F.H.3
  • 115
    • 0033053940 scopus 로고    scopus 로고
    • The molecular basis and clinical aspects of Peutz-Jeghers syndrome
    • Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci 1999, 55:735-750.
    • (1999) Cell Mol Life Sci , vol.55 , pp. 735-750
    • Hemminki, A.1
  • 116
    • 4544313662 scopus 로고    scopus 로고
    • Molecular basis and diagnostics of hereditary colorectal cancers
    • Abdel-Rahman W.M., Peltomaki P. Molecular basis and diagnostics of hereditary colorectal cancers. Ann Med 2004, 36:379-388.
    • (2004) Ann Med , vol.36 , pp. 379-388
    • Abdel-Rahman, W.M.1    Peltomaki, P.2
  • 117
    • 0033923499 scopus 로고    scopus 로고
    • Genetic heterogeneity in Peutz-Jeghers syndrome
    • Boardman L.A., Couch F.J., Burgart L.J., et al. Genetic heterogeneity in Peutz-Jeghers syndrome. Hum Mutat 2000, 16:23-30.
    • (2000) Hum Mutat , vol.16 , pp. 23-30
    • Boardman, L.A.1    Couch, F.J.2    Burgart, L.J.3
  • 118
    • 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
    • Mehenni H., Blouin J.L., Radhakrishna U., 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 1997, 61:1327-1334.
    • (1997) Am J Hum Genet , vol.61 , pp. 1327-1334
    • Mehenni, H.1    Blouin, J.L.2    Radhakrishna, U.3
  • 119
    • 27744511296 scopus 로고    scopus 로고
    • Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis
    • Sweet K., Willis J., Zhou X.P., et al. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA 2005, 294:2465-2473.
    • (2005) JAMA , vol.294 , pp. 2465-2473
    • Sweet, K.1    Willis, J.2    Zhou, X.P.3
  • 120
    • 0035772525 scopus 로고    scopus 로고
    • Preventive measures in Peutz-Jeghers syndrome
    • McGrath D.R., Spigelman A.D. Preventive measures in Peutz-Jeghers syndrome. Fam Cancer 2001, 1:121-125.
    • (2001) Fam Cancer , vol.1 , pp. 121-125
    • McGrath, D.R.1    Spigelman, A.D.2
  • 121
    • 0037478596 scopus 로고    scopus 로고
    • Diagnostic value of endoscopic capsule in patients with obscure digestive bleeding: blinded comparison with video push-enteroscopy
    • Saurin J.C., Delvaux M., Gaudin J.L., et al. Diagnostic value of endoscopic capsule in patients with obscure digestive bleeding: blinded comparison with video push-enteroscopy. Endoscopy 2003, 35:576-584.
    • (2003) Endoscopy , vol.35 , pp. 576-584
    • Saurin, J.C.1    Delvaux, M.2    Gaudin, J.L.3
  • 122
    • 35348992639 scopus 로고    scopus 로고
    • The genetics of hereditary colon cancer
    • Rustgi A.K. The genetics of hereditary colon cancer. Genes Dev 2007, 21:2525-2538.
    • (2007) Genes Dev , vol.21 , pp. 2525-2538
    • Rustgi, A.K.1
  • 123
    • 70350238781 scopus 로고    scopus 로고
    • PTEN hamartoma tumor syndrome: an overview
    • Hobert J.A., Eng C. PTEN hamartoma tumor syndrome: an overview. Genet Med 2009, 11:687-694.
    • (2009) Genet Med , vol.11 , pp. 687-694
    • Hobert, J.A.1    Eng, C.2
  • 124
    • 23844445836 scopus 로고    scopus 로고
    • Colorectal cancer: mutations in a signalling pathway
    • Parsons D.W., Wang T.L., Samuels Y., et al. Colorectal cancer: mutations in a signalling pathway. Nature 2005, 436:792.
    • (2005) Nature , vol.436 , pp. 792
    • Parsons, D.W.1    Wang, T.L.2    Samuels, Y.3
  • 125
    • 41849101441 scopus 로고    scopus 로고
    • Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics
    • Imai K., Yamamoto H. Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics. Carcinogenesis 2008, 29:673-680.
    • (2008) Carcinogenesis , vol.29 , pp. 673-680
    • Imai, K.1    Yamamoto, H.2
  • 126
    • 34848836040 scopus 로고    scopus 로고
    • Familial colorectal cancer syndrome X
    • Lipkin S.M., Afrasiabi K. Familial colorectal cancer syndrome X. Semin Oncol 2007, 34:425-427.
    • (2007) Semin Oncol , vol.34 , pp. 425-427
    • Lipkin, S.M.1    Afrasiabi, K.2
  • 127
    • 0141973793 scopus 로고    scopus 로고
    • Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer
    • Renkonen E., Zhang Y., Lohi H., et al. Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol 2003, 21:3629-3637.
    • (2003) J Clin Oncol , vol.21 , pp. 3629-3637
    • Renkonen, E.1    Zhang, Y.2    Lohi, H.3
  • 128
    • 14944362453 scopus 로고    scopus 로고
    • Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations
    • Abdel-Rahman W.M., Ollikainen M., Kariola R., et al. Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations. Oncogene 2005, 24:1542-1551.
    • (2005) Oncogene , vol.24 , pp. 1542-1551
    • Abdel-Rahman, W.M.1    Ollikainen, M.2    Kariola, R.3
  • 129
    • 20244383592 scopus 로고    scopus 로고
    • Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer
    • Young J., Barker M.A., Simms L.A., et al. Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer. Clin Gastroenterol Hepatol 2005, 3:254-263.
    • (2005) Clin Gastroenterol Hepatol , vol.3 , pp. 254-263
    • Young, J.1    Barker, M.A.2    Simms, L.A.3
  • 130
    • 20244386256 scopus 로고    scopus 로고
    • Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X
    • Lindor N.M., Rabe K., Petersen G.M., et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 2005, 293:1979-1985.
    • (2005) JAMA , vol.293 , pp. 1979-1985
    • Lindor, N.M.1    Rabe, K.2    Petersen, G.M.3
  • 131
    • 27144484911 scopus 로고    scopus 로고
    • Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway
    • Llor X., Pons E., Xicola R.M., et al. Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clin Cancer Res 2005, 11:7304-7310.
    • (2005) Clin Cancer Res , vol.11 , pp. 7304-7310
    • Llor, X.1    Pons, E.2    Xicola, R.M.3
  • 132
    • 25444443671 scopus 로고    scopus 로고
    • Rare variant hypothesis for multifactorial inheritance: susceptibility to colorectal adenomas as a model
    • Fearnhead N.S., Winney B., Bodmer W.F. Rare variant hypothesis for multifactorial inheritance: susceptibility to colorectal adenomas as a model. Cell Cycle 2005, 4:521-525.
    • (2005) Cell Cycle , vol.4 , pp. 521-525
    • Fearnhead, N.S.1    Winney, B.2    Bodmer, W.F.3
  • 133
    • 30444441995 scopus 로고    scopus 로고
    • Colorectal polyps in carriers of the APC I1307K polymorphism
    • Rennert G., Almog R., Tomsho L.P., et al. Colorectal polyps in carriers of the APC I1307K polymorphism. Dis Colon Rectum 2005, 48:2317-2321.
    • (2005) Dis Colon Rectum , vol.48 , pp. 2317-2321
    • Rennert, G.1    Almog, R.2    Tomsho, L.P.3
  • 134
    • 67349245787 scopus 로고    scopus 로고
    • New insights into the aetiology of colorectal cancer from genome-wide association studies
    • Tenesa A., Dunlop M.G. New insights into the aetiology of colorectal cancer from genome-wide association studies. Nat Rev Genet 2009, 10:353-358.
    • (2009) Nat Rev Genet , vol.10 , pp. 353-358
    • Tenesa, A.1    Dunlop, M.G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.