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Volumn 12, Issue 2, 2015, Pages 88-97

Clinical management of hereditary colorectal cancer syndromes

Author keywords

[No Author keywords available]

Indexed keywords

CELECOXIB; SULINDAC; TOREMIFENE;

EID: 84926127367     PISSN: 17595045     EISSN: 17595053     Source Type: Journal    
DOI: 10.1038/nrgastro.2014.229     Document Type: Review
Times cited : (96)

References (84)
  • 2
    • 42549165647 scopus 로고    scopus 로고
    • Guidelines for the clinical management of familial adenomatous polyposis (FAP)
    • Vasen, H. F. et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57, 704-713 (2008).
    • (2008) Gut , vol.57 , pp. 704-713
    • Vasen, H.F.1
  • 3
    • 67650754999 scopus 로고    scopus 로고
    • Genotype predicting phenotype in familial adenomatous polyposis: A practical application to the choice of surgery
    • Nieuwenhuis, M. H. et al. Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery. Dis. Colon Rectum 52, 1259-1263 (2009).
    • (2009) Dis. Colon Rectum , vol.52 , pp. 1259-1263
    • Nieuwenhuis, M.H.1
  • 5
    • 0037018508 scopus 로고    scopus 로고
    • Primary chemoprevention of familial adenomatous polyposis with sulindac
    • Giardiello, F. M. et al. Primary chemoprevention of familial adenomatous polyposis with sulindac. N. Engl. J. Med. 346, 1054-1059 (2002).
    • (2002) N. Engl. J. Med , vol.346 , pp. 1054-1059
    • Giardiello, F.M.1
  • 6
    • 0036114348 scopus 로고    scopus 로고
    • A randomised, double blind, placebo controlled study of celecoxib, a selective cyclooxygenase 2 inhibitor, on duodenal polyposis in familial adenomatous polyposis
    • Phillips, R. K. et al. A randomised, double blind, placebo controlled study of celecoxib, a selective cyclooxygenase 2 inhibitor, on duodenal polyposis in familial adenomatous polyposis. Gut 50, 857-860 (2002).
    • (2002) Gut , vol.50 , pp. 857-860
    • Phillips, R.K.1
  • 7
    • 84887844616 scopus 로고    scopus 로고
    • Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome
    • Barrow, P., Khan, M., Lalloo, F., Evans, D. G. & Hill, J. Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome. Br. J. Surg. 100, 1719-1731 (2013).
    • (2013) Br. J. Surg , vol.100 , pp. 1719-1731
    • Barrow, P.1    Khan, M.2    Lalloo, F.3    Evans, D.G.4    Hill, J.5
  • 8
    • 0029912928 scopus 로고    scopus 로고
    • Changing causes of mortality in patients with familial adenomatous polyposis
    • Belchetz, L. A., Berk, T., Bapat, B. V., Cohen, Z. & Gallinger, S. Changing causes of mortality in patients with familial adenomatous polyposis. Dis. Colon Rectum 39, 384-387 (1996).
    • (1996) Dis. Colon Rectum , vol.39 , pp. 384-387
    • Belchetz, L.A.1    Berk, T.2    Bapat, B.V.3    Cohen, Z.4    Gallinger, S.5
  • 9
    • 78650892973 scopus 로고    scopus 로고
    • Evaluation of management of desmoid tumours associated with familial adenomatous polyposis in Dutch patients
    • Nieuwenhuis, M. H. et al. Evaluation of management of desmoid tumours associated with familial adenomatous polyposis in Dutch patients. Br. J. Cancer 104, 37-42 (2011).
    • (2011) Br. J. Cancer , vol.104 , pp. 37-42
    • Nieuwenhuis, M.H.1
  • 10
    • 33744741054 scopus 로고    scopus 로고
    • Desmoid tumors-a characterization of patients seen at Mayo Clinic 1976-1999
    • Fallen, T., Wilson, M., Morlan, B. & Lindor, N. M. Desmoid tumors-a characterization of patients seen at Mayo Clinic 1976-1999. Fam. Cancer 5, 191-194 (2006).
    • (2006) Fam. Cancer , vol.5 , pp. 191-194
    • Fallen, T.1    Wilson, M.2    Morlan, B.3    Lindor, N.M.4
  • 11
    • 1642524320 scopus 로고    scopus 로고
    • High-dose tamoxifen and sulindac as first-line treatment for desmoid tumors
    • Hansmann, A., Adolph, C., Vogel, T., Unger, A. & Moeslein, G. High-dose tamoxifen and sulindac as first-line treatment for desmoid tumors. Cancer 100, 612-620 (2004).
    • (2004) Cancer , vol.100 , pp. 612-620
    • Hansmann, A.1    Adolph, C.2    Vogel, T.3    Unger, A.4    Moeslein, G.5
  • 14
    • 57249104892 scopus 로고    scopus 로고
    • Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis
    • Boparai, K. S. et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology 135, 2014-2018 (2008).
    • (2008) Gastroenterology , vol.135 , pp. 2014-2018
    • Boparai, K.S.1
  • 15
    • 70649083240 scopus 로고    scopus 로고
    • Expanded extracolonic tumor spectrum in MUTYH-associated polyposis
    • Vogt, S. et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 137, 1976-1985 (2009).
    • (2009) Gastroenterology , vol.137 , pp. 1976-1985
    • Vogt, S.1
  • 16
    • 78650005336 scopus 로고    scopus 로고
    • A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants
    • Theodoratou, E. et al. A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. Br. J. Cancer 103, 1875-1884 (2010).
    • (2010) Br. J. Cancer , vol.103 , pp. 1875-1884
    • Theodoratou, E.1
  • 17
    • 84873096362 scopus 로고    scopus 로고
    • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
    • Palles, C. et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat. Genet. 45, 136-144 (2013).
    • (2013) Nat. Genet , vol.45 , pp. 136-144
    • Palles, C.1
  • 18
    • 84902330508 scopus 로고    scopus 로고
    • New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis
    • Valle, L. et al. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Hum. Mol. Genet. 23, 3506-3512 (2014).
    • (2014) Hum. Mol. Genet , vol.23 , pp. 3506-3512
    • Valle, L.1
  • 19
    • 84937518503 scopus 로고    scopus 로고
    • Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer
    • Elsayed, F. A. et al. Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer. Eur. J. Hum. Genet. http://dx.doi.org/10.1038/ejhg.2014.242.
    • Eur. J. Hum. Genet.
    • Elsayed, F.A.1
  • 20
    • 50649111364 scopus 로고    scopus 로고
    • Constitutional mismatch repair-deficiency syndrome: Have we so far seen only the tip of an iceberg?
    • Wimmer, K. & Etzler, J. Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Hum. Genet. 124, 105-122 (2008).
    • (2008) Hum Genet , vol.124 , pp. 105-122
    • Wimmer, K.1    Etzler, J.2
  • 21
    • 84901470161 scopus 로고    scopus 로고
    • Diagnostic criteria for constitutional mismatch repair deficiency syndrome: Suggestions of the European consortium 'care for CMMRD' (C4CMMRD)
    • Wimmer, K. et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). J. Med. Genet. 51, 355-365 (2014).
    • (2014) J. Med. Genet , vol.51 , pp. 355-365
    • Wimmer, K.1
  • 22
    • 84899494138 scopus 로고    scopus 로고
    • Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium Care for CMMR-D" (C4CMMR-D)
    • Vasen, H. F. et al. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D). J. Med. Genet. 51, 283-293 (2014).
    • (2014) J. Med. Genet , vol.51 , pp. 283-293
    • Vasen, H.F.1
  • 23
    • 84890857720 scopus 로고    scopus 로고
    • Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis
    • Hes, F. J. et al. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis. J. Med. Genet. 51, 55-60 (2014).
    • (2014) J. Med. Genet , vol.51 , pp. 55-60
    • Hes, F.J.1
  • 24
    • 77953985258 scopus 로고    scopus 로고
    • Peutz-Jeghers syndrome: A systematic review and recommendations for management
    • Beggs, A. D. et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 59, 975-986 (2010).
    • (2010) Gut , vol.59 , pp. 975-986
    • Beggs, A.D.1
  • 25
    • 79955598460 scopus 로고    scopus 로고
    • High cumulative risk of intussusception in patients with Peutz-Jeghers syndrome: Time to update surveillance guidelines? Am
    • van Lier, M. G., Mathus-Vliegen, E. M., Wagner, A., van Leerdam, M. E. & Kuipers, E. J. High cumulative risk of intussusception in patients with Peutz-Jeghers syndrome: time to update surveillance guidelines? Am. J. Gastroenterol. 106, 940-945 (2011).
    • (2011) J. Gastroenterol , vol.106 , pp. 940-945
    • Van Lier, M.G.1    Mathus-Vliegen, E.M.2    Wagner, A.3    Van Leerdam, M.E.4    Kuipers, E.J.5
  • 26
    • 77953230425 scopus 로고    scopus 로고
    • High cancer risk in Peutz-Jeghers syndrome: A systematic review and surveillance recommendations
    • van Lier, M. G. et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am. J. Gastroenterol. 105, 1258-1264 (2010).
    • (2010) Am. J. Gastroenterol , vol.105 , pp. 1258-1264
    • Van Lier, M.G.1
  • 27
    • 22544441879 scopus 로고    scopus 로고
    • Sertoli cell tumor causing prepubertal gynecomastia in a boy with Peutz-Jeghers syndrome: The outcome of 1-year treatment with the aromatase inhibitor testolactone
    • Kara, C., Kutlu, A. O., Tosun, M. S., Apaydin, S. & Senel, F. Sertoli cell tumor causing prepubertal gynecomastia in a boy with Peutz-Jeghers syndrome: the outcome of 1-year treatment with the aromatase inhibitor testolactone. Horm. Res. 63, 252-256 (2005).
    • (2005) Horm. Res. , vol.63 , pp. 252-256
    • Kara, C.1    Kutlu, A.O.2    Tosun, M.S.3    Apaydin, S.4    Senel, F.5
  • 29
    • 33847314077 scopus 로고    scopus 로고
    • Gastrointestinal polyposis syndromes
    • Brosens, L. A. et al. Gastrointestinal polyposis syndromes. Curr. Mol. Med. 7, 29-46 (2007).
    • (2007) Curr. Mol. Med , vol.7 , pp. 29-46
    • Brosens, L.A.1
  • 30
    • 3142746721 scopus 로고    scopus 로고
    • The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2 BMPR1B, and ACVR1 mutations
    • Howe, J. R. et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J. Med. Genet. 41, 484-491 (2004).
    • (2004) J. Med. Genet , vol.41 , pp. 484-491
    • Howe, J.R.1
  • 31
    • 34347221599 scopus 로고    scopus 로고
    • Risk of colorectal cancer in juvenile polyposis
    • Brosens, L. A. et al. Risk of colorectal cancer in juvenile polyposis. Gut 56, 965-967 (2007).
    • (2007) Gut , vol.56 , pp. 965-967
    • Brosens, L.A.1
  • 32
    • 0036664427 scopus 로고    scopus 로고
    • Juvenile polyposis: Massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers
    • Friedl, W. et al. Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Hum. Genet. 111, 108-111 (2002).
    • (2002) Hum. Genet , vol.111 , pp. 108-111
    • Friedl, W.1
  • 33
    • 84864978712 scopus 로고    scopus 로고
    • Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation
    • Schwenter, F. et al. Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation. J. Gastroenterol. 47, 795-804 (2012).
    • (2012) J. Gastroenterol , vol.47 , pp. 795-804
    • Schwenter, F.1
  • 34
    • 0032816499 scopus 로고    scopus 로고
    • Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis
    • Howe, J. R., Ringold, J. C., Hughes, J. H. & Summers, R. W. Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis. Surgery 126, 162-170 (1999).
    • (1999) Surgery , vol.126 , pp. 162-170
    • Howe, J.R.1    Ringold, J.C.2    Hughes, J.H.3    Summers, R.W.4
  • 35
    • 84896739101 scopus 로고    scopus 로고
    • Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome
    • Nieuwenhuis, M. H. et al. Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. Fam. Cancer 13, 57-63 (2014).
    • (2014) Fam. Cancer , vol.13 , pp. 57-63
    • Nieuwenhuis, M.H.1
  • 36
    • 84855985283 scopus 로고    scopus 로고
    • Lifetime cancer risks in individuals with germline PTEN mutations
    • Tan, M. H. et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin. Cancer Res. 18, 400-407 (2012).
    • (2012) Clin. Cancer Res , vol.18 , pp. 400-407
    • Tan, M.H.1
  • 37
    • 84878888088 scopus 로고    scopus 로고
    • High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
    • Bubien, V. et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J. Med. Genet. 50, 255-263 (2013).
    • (2013) J. Med. Genet , vol.50 , pp. 255-263
    • Bubien, V.1
  • 38
    • 84865410799 scopus 로고    scopus 로고
    • Is colorectal surveillance indicated in patients with PTEN mutations?
    • Nieuwenhuis, M. H. et al. Is colorectal surveillance indicated in patients with PTEN mutations? Colorectal Dis. 14, 562-566 (2012).
    • (2012) Colorectal Dis , vol.14 , pp. 562-566
    • Nieuwenhuis, M.H.1
  • 39
    • 52049126174 scopus 로고    scopus 로고
    • Chemoprevention and treatment of experimental Cowden's disease by mTOR inhibition with rapamycin
    • Squarize, C. H., Castilho, R. M. & Gutkind, J. S. Chemoprevention and treatment of experimental Cowden's disease by mTOR inhibition with rapamycin. Cancer Res. 68, 7066-7072 (2008).
    • (2008) Cancer Res , vol.68 , pp. 7066-7072
    • Squarize, C.H.1    Castilho, R.M.2    Gutkind, J.S.3
  • 40
    • 84861584357 scopus 로고    scopus 로고
    • Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1
    • Jaeger, E. et al. Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat. Genet. 44, 699-703 (2012).
    • (2012) Nat. Genet , vol.44 , pp. 699-703
    • Jaeger, E.1
  • 41
    • 33746806391 scopus 로고    scopus 로고
    • Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function
    • Cao, X. et al. Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. J. Med. Genet. 43, e13 (2006).
    • (2006) J. Med. Genet , vol.43 , pp. e13
    • Cao, X.1
  • 42
    • 84861231170 scopus 로고    scopus 로고
    • Phenotype and polyp landscape in serrated polyposis syndrome: A series of 100 patients from genetics clinics
    • Rosty, C. et al. Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics. Am. J. Surg. Pathol. 36, 876-882 (2012).
    • (2012) Am. J. Surg. Pathol , vol.36 , pp. 876-882
    • Rosty, C.1
  • 44
    • 84888335308 scopus 로고    scopus 로고
    • Serrated polyposis: Colonic phenotype, extracolonic features, and familial risk in a large cohort
    • Jasperson, K. W. et al. Serrated polyposis: colonic phenotype, extracolonic features, and familial risk in a large cohort. Dis. Colon Rectum 56, 1211-1216 (2013).
    • (2013) Dis. Colon Rectum , vol.56 , pp. 1211-1216
    • Jasperson, K.W.1
  • 45
    • 77956097379 scopus 로고    scopus 로고
    • Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome
    • Boparai, K. S. et al. Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome. Gut 59, 1222-1225 (2010).
    • (2010) Gut , vol.59 , pp. 1222-1225
    • Boparai, K.S.1
  • 47
    • 84903179935 scopus 로고    scopus 로고
    • Incidence of colonic neoplasia in patients with serrated polyposis syndrome who undergo annual endoscopic surveillance
    • Hazewinkel, Y. et al. Incidence of colonic neoplasia in patients with serrated polyposis syndrome who undergo annual endoscopic surveillance. Gastroenterology 147, 88-95 (2014).
    • (2014) Gastroenterology , vol.147 , pp. 88-95
    • Hazewinkel, Y.1
  • 48
    • 67650924286 scopus 로고    scopus 로고
    • Review of the Lynch syndrome: History, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
    • Lynch, H. T. et al. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin. Genet. 76, 1-18 (2009).
    • (2009) Clin. Genet , vol.76 , pp. 1-18
    • Lynch, H.T.1
  • 49
    • 84880918800 scopus 로고    scopus 로고
    • The mechanism of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome
    • Martin-Lopez, J. V. & Fishel, R. The mechanism of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome. Fam. Cancer 12, 159-168 (2013).
    • (2013) Fam. Cancer , vol.12 , pp. 159-168
    • Martin-Lopez, J.V.1    Fishel, R.2
  • 50
    • 0029005780 scopus 로고
    • Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome)
    • Vasen, H. F., Nagengast, F. M. & Khan, P. M. Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome). Lancet 345, 1183-1184 (1995).
    • (1995) Lancet , vol.345 , pp. 1183-1184
    • Vasen, H.F.1    Nagengast, F.M.2    Khan, P.M.3
  • 51
    • 84876900933 scopus 로고    scopus 로고
    • Revised guidelines for the clinical management of Lynch syndrome (HNPCC): Recommendations by a group of European experts
    • Vasen, H. F. et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 62, 812-823 (2013).
    • (2013) Gut , vol.62 , pp. 812-823
    • Vasen, H.F.1
  • 53
    • 57749107623 scopus 로고    scopus 로고
    • Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome
    • Burn, J. et al. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N. Engl. J. Med. 359, 2567-2578 (2008).
    • (2008) N. Engl. J. Med , vol.359 , pp. 2567-2578
    • Burn, J.1
  • 54
    • 83955161674 scopus 로고    scopus 로고
    • Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: An analysis from the CAPP2 randomised controlled trial
    • Burn, J. et al. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 378, 2081-2087 (2011).
    • (2011) Lancet , vol.378 , pp. 2081-2087
    • Burn, J.1
  • 55
    • 84880923087 scopus 로고    scopus 로고
    • Cancer risk in Lynch Syndrome
    • Barrow, E., Hill, J. & Evans, D. G. Cancer risk in Lynch Syndrome. Fam. Cancer 12, 229-240 (2013).
    • (2013) Fam. Cancer , vol.12 , pp. 229-240
    • Barrow, E.1    Hill, J.2    Evans, D.G.3
  • 56
    • 84921896169 scopus 로고    scopus 로고
    • Lynch syndrome caused by germline PMS2 mutations; Delineating the cancer risk
    • ten Broeke, S. W. et al. Lynch syndrome caused by germline PMS2 mutations; delineating the cancer risk. J. Clin. Oncol. http://dx.doi.org/10.1200/JCO.2014.57.8088.
    • J. Clin. Oncol
    • Ten Broeke, S.W.1
  • 57
    • 48549099663 scopus 로고    scopus 로고
    • The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    • Senter, L. et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 135, 419-428 (2008).
    • (2008) Gastroenterology , vol.135 , pp. 419-428
    • Senter, L.1
  • 58
    • 76349108011 scopus 로고    scopus 로고
    • Risks of Lynch syndrome cancers for MSH6 mutation carriers
    • Baglietto, L. et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J. Natl Cancer. Inst. 102, 193-201 (2010).
    • (2010) J. Natl Cancer. Inst , vol.102 , pp. 193-201
    • Baglietto, L.1
  • 59
    • 84870747205 scopus 로고    scopus 로고
    • Risks of less common cancers in proven mutation carriers with lynch syndrome
    • Engel, C. et al. Risks of less common cancers in proven mutation carriers with lynch syndrome. J. Clin. Oncol. 30, 4409-4415 (2012).
    • (2012) J. Clin. Oncol , vol.30 , pp. 4409-4415
    • Engel, C.1
  • 60
    • 34250715384 scopus 로고    scopus 로고
    • Guidelines for the clinical management of Lynch syndrome (hereditary nonpolyposis cancer)
    • Vasen, H. F. et al. Guidelines for the clinical management of Lynch syndrome (hereditary nonpolyposis cancer). J. Med. Genet. 44, 353-362 (2007).
    • (2007) J. Med. Genet , vol.44 , pp. 353-362
    • Vasen, H.F.1
  • 61
    • 58849130663 scopus 로고    scopus 로고
    • Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: A report of 121 families with proven mutations
    • Barrow, E. et al. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin. Genet. 75, 141-149 (2009).
    • (2009) Clin. Genet , vol.75 , pp. 141-149
    • Barrow, E.1
  • 62
    • 70349321608 scopus 로고    scopus 로고
    • Germ-line mutations in mismatch repair genes associated with prostate cancer
    • Grindedal, E. M. et al. Germ-line mutations in mismatch repair genes associated with prostate cancer. Cancer Epidemiol. Biomarkers Prev. 18, 2460-2467 (2009).
    • (2009) Cancer Epidemiol. Biomarkers Prev , vol.18 , pp. 2460-2467
    • Grindedal, E.M.1
  • 63
    • 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. 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. 41, 112-117 (2009).
    • (2009) Nat. Genet , vol.41 , pp. 112-117
    • Ligtenberg, M.J.1
  • 64
    • 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., Otto, S. & Olah, E. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum. Mutat. 30, 197-203 (2009).
    • (2009) Hum. Mutat , vol.30 , pp. 197-203
    • Kovacs, M.E.1    Papp, J.2    Szentirmay, Z.3    Otto, S.4    Olah, E.5
  • 65
    • 84880917823 scopus 로고    scopus 로고
    • EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients
    • Ligtenberg, M. J., Kuiper, R. P., Geurts van, K. A. & Hoogerbrugge, N. EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients. Fam. Cancer 12, 169-174 (2013).
    • (2013) Fam. Cancer , vol.12 , pp. 169-174
    • Ligtenberg, M.J.1    Kuiper, R.P.2    Geurts Van, K.A.3    Hoogerbrugge, N.4
  • 66
    • 78650692633 scopus 로고    scopus 로고
    • Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: A cohort study
    • Kempers, M. J. et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol. 12, 49-55 (2011).
    • (2011) Lancet Oncol , vol.12 , pp. 49-55
    • Kempers, M.J.1
  • 67
    • 54349109188 scopus 로고    scopus 로고
    • A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting
    • Ramsoekh, D. et al. A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. Gut 57, 1539-1544 (2008).
    • (2008) Gut , vol.57 , pp. 1539-1544
    • Ramsoekh, D.1
  • 68
    • 3242670404 scopus 로고    scopus 로고
    • Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance
    • Hendriks, Y. M. et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 127, 17-25 (2004).
    • (2004) Gastroenterology , vol.127 , pp. 17-25
    • Hendriks, Y.M.1
  • 69
    • 84894353372 scopus 로고    scopus 로고
    • Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndromelike tumors
    • Mensenkamp, A. R. et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndromelike tumors. Gastroenterology 146, 643-646 (2014).
    • (2014) Gastroenterology , vol.146 , pp. 643-646
    • Mensenkamp, A.R.1
  • 70
    • 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. et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 293, 1979-1985 (2005).
    • (2005) JAMA , vol.293 , pp. 1979-1985
    • Lindor, N.M.1
  • 71
    • 84890130083 scopus 로고    scopus 로고
    • A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer
    • Mesher, D. et al. A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer. Int. J. Cancer 134, 939-947 (2014).
    • (2014) Int. J. Cancer , vol.134 , pp. 939-947
    • Mesher, D.1
  • 72
    • 33744522913 scopus 로고    scopus 로고
    • Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome
    • Dove-Edwin, I. et al. Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. Gastroenterology 130, 1995-2000 (2006).
    • (2006) Gastroenterology , vol.130 , pp. 1995-2000
    • Dove-Edwin, I.1
  • 73
    • 17944362664 scopus 로고    scopus 로고
    • Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
    • Hampel, H. et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N. Engl. J. Med. 352, 1851-1860 (2005).
    • (2005) N. Engl. J. Med , vol.352 , pp. 1851-1860
    • Hampel, H.1
  • 74
    • 0025848680 scopus 로고
    • The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC)
    • Vasen, H. F., Mecklin, J. P., Khan, P. M. & Lynch, H. T. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis. Colon Rectum 34, 424-425 (1991).
    • (1991) Dis. Colon Rectum , vol.34 , pp. 424-425
    • Vasen, H.F.1    Mecklin, J.P.2    Khan, P.M.3    Lynch, H.T.4
  • 75
    • 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. & Lynch, H. T. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116, 1453-1456 (1999).
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3    Lynch, H.T.4
  • 76
    • 0033039409 scopus 로고    scopus 로고
    • Suspected hereditary nonpolyposis colorectal cancer: International collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC) criteria and results of genetic diagnosis
    • Park, J. G. et al. Suspected hereditary nonpolyposis colorectal cancer: International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) criteria and results of genetic diagnosis. Dis. Colon Rectum 42, 710-715 (1999).
    • (1999) Dis. Colon Rectum , vol.42 , pp. 710-715
    • Park, J.G.1
  • 77
    • 0031551963 scopus 로고    scopus 로고
    • A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting highlights and Bethesda guidelines
    • Rodriguez-Bigas, M. A. et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J. Natl Cancer Inst. 89, 1758-1762 (1997).
    • (1997) J. Natl Cancer Inst , vol.89 , pp. 1758-1762
    • Rodriguez-Bigas, M.A.1
  • 78
    • 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. et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 58, 5248-5257 (1998).
    • (1998) Cancer Res , vol.58 , pp. 5248-5257
    • Boland, C.R.1
  • 79
    • 20244386395 scopus 로고    scopus 로고
    • Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer
    • Pinol, V. et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 293, 1986-1994 (2005).
    • (2005) JAMA , vol.293 , pp. 1986-1994
    • Pinol, V.1
  • 80
    • 84880919158 scopus 로고    scopus 로고
    • Prediction models in Lynch syndrome
    • Kastrinos, F., Balmana, J. & Syngal, S. Prediction models in Lynch syndrome. Fam. Cancer 12, 217-228 (2013).
    • (2013) Fam. Cancer , vol.12 , pp. 217-228
    • Kastrinos, F.1    Balmana, J.2    Syngal, S.3
  • 81
    • 37449019456 scopus 로고    scopus 로고
    • Validation and extension of the PREMM1, 2 model in a population-based cohort of colorectal cancer patients
    • Balaguer, F. et al. Validation and extension of the PREMM1, 2 model in a population-based cohort of colorectal cancer patients. Gastroenterology 134, 39-46 (2008).
    • (2008) Gastroenterology , vol.134 , pp. 39-46
    • Balaguer, F.1
  • 82
    • 33847110186 scopus 로고    scopus 로고
    • Family history is neglected in the work-up of patients with colorectal cancer: A quality assessment using cancer registry data
    • van Dijk, D. A., Oostindier, M. J., Kloosterman-Boele, W. M., Krijnen, P. & Vasen, H. F. Family history is neglected in the work-up of patients with colorectal cancer: a quality assessment using cancer registry data. Fam. Cancer 6, 131-134 (2007).
    • (2007) Fam. Cancer , vol.6 , pp. 131-134
    • Van Dijk, D.A.1    Oostindier, M.J.2    Kloosterman-Boele, W.M.3    Krijnen, P.4    Vasen, H.F.5
  • 83
    • 77955053291 scopus 로고    scopus 로고
    • Recommendations to improve identification of hereditary and familial colorectal cancer in Europe
    • Vasen, H. F. et al. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Fam. Cancer 9, 109-115 (2010).
    • (2010) Fam. Cancer , vol.9 , pp. 109-115
    • Vasen, H.F.1
  • 84
    • 84880919507 scopus 로고    scopus 로고
    • How do we approach the goal of identifying everybody with Lynch syndrome?
    • Hampel, H. & de la Chapelle, A. How do we approach the goal of identifying everybody with Lynch syndrome? Fam. Cancer 12, 313-317 (2013).
    • (2013) Fam Cancer , vol.12 , pp. 313-317
    • Hampel, H.1    De La Chapelle, A.2


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