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Volumn 111, Issue 1, 2015, Pages 103-111

Hereditary Colorectal cancer syndromes and genetic testing

Author keywords

Colon cancer; Genetic testing; Hereditary syndromes

Indexed keywords

ARTICLE; CANCER MORTALITY; CANCER PATIENT; CANCER SCREENING; CLINICAL FEATURE; FAMILIAL CANCER; FAMILIAL COLON POLYPOSIS; GENETIC SCREENING; HEREDITARY COLORECTAL CANCER; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; JUVENILE POLYPOSIS SYNDROME; PEUTZ JEGHERS SYNDROME; POLYMERASE PROOFREADING ASSOCIATED POLYPOSIS; PTEN HAMARTOMA TUMOR SYNDROME; COLORECTAL NEOPLASMS; GENETICS; NEOPLASTIC SYNDROMES, HEREDITARY;

EID: 84920174166     PISSN: 00224790     EISSN: 10969098     Source Type: Journal    
DOI: 10.1002/jso.23706     Document Type: Article
Times cited : (14)

References (81)
  • 1
    • 0025726703 scopus 로고
    • The UK northern region genetic register for familial adenomatous polyposis coli: Use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations
    • Burn J, Chapman P, Delhanty J, et al.: The UK northern region genetic register for familial adenomatous polyposis coli: Use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. J Med Genet 1991;28:289-296.
    • (1991) J Med Genet , vol.28 , pp. 289-296
    • Burn, J.1    Chapman, P.2    Delhanty, J.3
  • 2
    • 0026558770 scopus 로고
    • Epidemiology of familial adenomatous polyposis in finland: Impact of family screening on the colorectal cancer rate and survival
    • Jarvinen HJ: Epidemiology of familial adenomatous polyposis in finland: Impact of family screening on the colorectal cancer rate and survival. Gut 1992;33:357-360.
    • (1992) Gut , vol.33 , pp. 357-360
    • Jarvinen, H.J.1
  • 3
    • 0028350369 scopus 로고
    • Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate
    • Bisgaard ML, Fenger K, Bulow S, et al.: Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate. Hum Mutat 1994;3:121-125.
    • (1994) Hum Mutat , vol.3 , pp. 121-125
    • Bisgaard, M.L.1    Fenger, K.2    Bulow, S.3
  • 4
    • 37449011393 scopus 로고    scopus 로고
    • American founder mutation for attenuated familial adenomatous polyposis
    • Neklason DW, Stevens J, Boucher KM, et al.: American founder mutation for attenuated familial adenomatous polyposis. Clin Gastroenterol Hepatol 2008;6:46-52.
    • (2008) Clin Gastroenterol Hepatol , vol.6 , pp. 46-52
    • Neklason, D.W.1    Stevens, J.2    Boucher, K.M.3
  • 5
    • 38649110440 scopus 로고    scopus 로고
    • Fundic gland polyp dysplasia is common in familial adenomatous polyposis
    • Bianchi LK, Burke CA, Bennett AE, et al.: Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol 2008;6:180-185.
    • (2008) Clin Gastroenterol Hepatol , vol.6 , pp. 180-185
    • Bianchi, L.K.1    Burke, C.A.2    Bennett, A.E.3
  • 6
    • 0032975994 scopus 로고    scopus 로고
    • The natural history of untreated duodenal and ampullary adenomas in patients with familial adenomatous polyposis followed in an endoscopic surveillance program
    • Burke CA, Beck GJ, Church JM, et al.: The natural history of untreated duodenal and ampullary adenomas in patients with familial adenomatous polyposis followed in an endoscopic surveillance program. Gastrointest Endosc 1999;49:358-364.
    • (1999) Gastrointest Endosc , vol.49 , pp. 358-364
    • Burke, C.A.1    Beck, G.J.2    Church, J.M.3
  • 7
    • 0028925308 scopus 로고
    • Duodenal adenomatosis in familial adenomatous polyposis. DAF project group
    • Bulow S, Alm T, Fausa O, et al.: Duodenal adenomatosis in familial adenomatous polyposis. DAF project group. Int J Colorectal Dis 1995;10:43-46.
    • (1995) Int J Colorectal Dis , vol.10 , pp. 43-46
    • Bulow, S.1    Alm, T.2    Fausa, O.3
  • 8
    • 0024342360 scopus 로고
    • Upper gastrointestinal cancer in patients with familial adenomatous polyposis
    • Spigelman AD, Williams CB, Talbot IC, et al.: Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1989;2:783-785.
    • (1989) Lancet , vol.2 , pp. 783-785
    • Spigelman, A.D.1    Williams, C.B.2    Talbot, I.C.3
  • 10
    • 79951675102 scopus 로고    scopus 로고
    • Screening for thyroid cancer in patients with familial adenomatous polyposis
    • Jarrar AM, Milas M, Mitchell J, et al.: Screening for thyroid cancer in patients with familial adenomatous polyposis. Ann Surg 2011;253:515-521.
    • (2011) Ann Surg , vol.253 , pp. 515-521
    • Jarrar, A.M.1    Milas, M.2    Mitchell, J.3
  • 12
    • 84864506477 scopus 로고    scopus 로고
    • Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas
    • Grover S, Kastrinos F, Steyerberg EW, et al.: Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA 2012;308:485-492.
    • (2012) JAMA , vol.308 , pp. 485-492
    • Grover, S.1    Kastrinos, F.2    Steyerberg, E.W.3
  • 13
    • 42549165647 scopus 로고    scopus 로고
    • Guidelines for the clinical management of familial adenomatous polyposis (FAP)
    • Vasen HF, 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
  • 14
    • 70349327669 scopus 로고    scopus 로고
    • Familial adenomatous polyposis
    • Church J: Familial adenomatous polyposis. Surg Oncol Clin N Am 2009;18:585-598.
    • (2009) Surg Oncol Clin N Am , vol.18 , pp. 585-598
    • Church, J.1
  • 15
    • 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
  • 16
    • 0030935240 scopus 로고    scopus 로고
    • Fate of the rectal stump after colectomy and ileorectal anastomosis for familial adenomatous polyposis
    • Heiskanen I, Jarvinen HJ: Fate of the rectal stump after colectomy and ileorectal anastomosis for familial adenomatous polyposis. Int J Colorectal Dis 1997;12:9-13.
    • (1997) Int J Colorectal Dis , vol.12 , pp. 9-13
    • Heiskanen, I.1    Jarvinen, H.J.2
  • 17
    • 84895075118 scopus 로고    scopus 로고
    • Risk of cancer and secondary proctectomy after colectomy and ileorectal anastomosis in familial adenomatous polyposis
    • Koskenvuo L, Renkonen-Sinisalo L, Jarvinen HJ, et al.: Risk of cancer and secondary proctectomy after colectomy and ileorectal anastomosis in familial adenomatous polyposis. Int J Colorectal Dis 2014;29:225-230.
    • (2014) Int J Colorectal Dis , vol.29 , pp. 225-230
    • Koskenvuo, L.1    Renkonen-Sinisalo, L.2    Jarvinen, H.J.3
  • 18
    • 0033122731 scopus 로고    scopus 로고
    • Cumulative risk of developing polyps or malignancy at the ileal pouch-anal anastomosis in patients with familial adenomatous polyposis
    • van Duijvendijk P, Vasen HF, Bertario L, et al.: Cumulative risk of developing polyps or malignancy at the ileal pouch-anal anastomosis in patients with familial adenomatous polyposis. J Gastrointest Surg 1999;3:325-330.
    • (1999) J Gastrointest Surg , vol.3 , pp. 325-330
    • Van Duijvendijk, P.1    Vasen, H.F.2    Bertario, L.3
  • 19
    • 0027197062 scopus 로고
    • Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis
    • Giardiello FM, Hamilton SR, Krush AJ, et al.: Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med 1993;328:1313-1316.
    • (1993) N Engl J Med , vol.328 , pp. 1313-1316
    • Giardiello, F.M.1    Hamilton, S.R.2    Krush, A.J.3
  • 20
    • 17744418769 scopus 로고    scopus 로고
    • The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis
    • Steinbach G, Lynch PM, Phillips RK, et al.: The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med 2000;342:1946-1952.
    • (2000) N Engl J Med , vol.342 , pp. 1946-1952
    • Steinbach, G.1    Lynch, P.M.2    Phillips, R.K.3
  • 21
    • 77951886686 scopus 로고    scopus 로고
    • Outcome based on management for duodenal adenomas: Sporadic versus familial disease
    • Johnson MD, Mackey R, Brown N, et al.: Outcome based on management for duodenal adenomas: Sporadic versus familial disease. J Gastrointest Surg 2010;14:229-235.
    • (2010) J Gastrointest Surg , vol.14 , pp. 229-235
    • Johnson, M.D.1    Mackey, R.2    Brown, N.3
  • 22
    • 22744458880 scopus 로고    scopus 로고
    • The utility of capsule endoscopy small bowel surveillance in patients with polyposis
    • Burke CA, Santisi J, Church J, et al.: The utility of capsule endoscopy small bowel surveillance in patients with polyposis. Am J Gastroenterol 2005;100:1498-1502.
    • (2005) Am J Gastroenterol , vol.100 , pp. 1498-1502
    • Burke, C.A.1    Santisi, J.2    Church, J.3
  • 23
    • 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 RK, Wallace MH, Lynch PM, et al.: A randomised, double blind, placebo controlled study of celecoxib, a selective cyclooxygenase 2 inhibitor, on duodenal polyposis in familial adenomatous polyposis. Gut 2002;50:857-860.
    • (2002) Gut , vol.50 , pp. 857-860
    • Phillips, R.K.1    Wallace, M.H.2    Lynch, P.M.3
  • 24
    • 33745920193 scopus 로고    scopus 로고
    • Association of MUTYH and colorectal cancer
    • Tenesa A, Campbell H, Barnetson R, et al.: Association of MUTYH and colorectal cancer. Br J Cancer 2006;95:239-242.
    • (2006) Br J Cancer , vol.95 , pp. 239-242
    • Tenesa, A.1    Campbell, H.2    Barnetson, R.3
  • 25
    • 0036478899 scopus 로고    scopus 로고
    • Inherited variants of MYH associated with somatic G:C->T:A mutations in colorectal tumors
    • Al-Tassan N, Chmiel NH, Maynard J, et al.: Inherited variants of MYH associated with somatic G:C->T:A mutations in colorectal tumors. Nat Genet 2002;30:227-232.
    • (2002) Nat Genet , vol.30 , pp. 227-232
    • Al-Tassan, N.1    Chmiel, N.H.2    Maynard, J.3
  • 26
    • 62949228316 scopus 로고    scopus 로고
    • Germline MutY human homologue mutations and colorectal cancer: A multisite case-control study
    • Cleary SP, Cotterchio M, Jenkins MA, et al.: Germline MutY human homologue mutations and colorectal cancer: A multisite case-control study. Gastroenterology 2009;136:1251-1260.
    • (2009) Gastroenterology , vol.136 , pp. 1251-1260
    • Cleary, S.P.1    Cotterchio, M.2    Jenkins, M.A.3
  • 27
    • 0037468517 scopus 로고    scopus 로고
    • Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
    • Sieber OM, 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
  • 28
    • 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 LM, Boardman LA, 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
  • 29
    • 20544452084 scopus 로고    scopus 로고
    • Germline susceptibility to colorectal cancer due to base-excision repair gene defects
    • Farrington SM, 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
  • 30
    • 58649111511 scopus 로고    scopus 로고
    • Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTYH-associated polyposis
    • Nielsen M, Joerink-van de Beld MC, Jones N, et al.: Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTYH-associated polyposis. Gastroenterology 2009;136:471-476.
    • (2009) Gastroenterology , vol.136 , pp. 471-476
    • Nielsen, M.1    Joerink-Van De Beld, M.C.2    Jones, N.3
  • 31
    • 78650005336 scopus 로고    scopus 로고
    • A large-scale metaanalysis to refine colorectal cancer risk estimates associated with MUTYH variants
    • Theodoratou E, Campbell H, Tenesa A, et al.: A large-scale metaanalysis to refine colorectal cancer risk estimates associated with MUTYH variants. Br J Cancer 2010;103:1875-1884.
    • (2010) Br J Cancer , vol.103 , pp. 1875-1884
    • Theodoratou, E.1    Campbell, H.2    Tenesa, A.3
  • 32
    • 84899413123 scopus 로고    scopus 로고
    • Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer
    • Win AK, Dowty JG, Cleary SP, et al.: Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology 2014;146:1208-1211.e5.
    • (2014) Gastroenterology , vol.146 , pp. 1208-1211e5
    • Win, A.K.1    Dowty, J.G.2    Cleary, S.P.3
  • 33
    • 57249104892 scopus 로고    scopus 로고
    • Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis
    • Boparai KS, Dekker E, Van Eeden S, et al.: Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology 2008;135:2014-2018.
    • (2008) Gastroenterology , vol.135 , pp. 2014-2018
    • Boparai, K.S.1    Dekker, E.2    Van Eeden, S.3
  • 34
    • 70649083240 scopus 로고    scopus 로고
    • Expanded extracolonic tumor spectrum in MUTYH-associated polyposis
    • e1-e10
    • Vogt S, Jones N, Christian D, et al.: Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009;137:1976-1985.e1-e10.
    • (2009) Gastroenterology , vol.137 , pp. 1976-1985
    • Vogt, S.1    Jones, N.2    Christian, D.3
  • 35
    • 84873096362 scopus 로고    scopus 로고
    • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
    • Palles C, Cazier JB, Howarth KM, et al.: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2013;45:136-144.
    • (2013) Nat Genet , vol.45 , pp. 136-144
    • Palles, C.1    Cazier, J.B.2    Howarth, K.M.3
  • 36
    • 4444292985 scopus 로고    scopus 로고
    • Highly penetrant hereditary cancer syndromes
    • Nagy R, Sweet K, Eng C: Highly penetrant hereditary cancer syndromes. Oncogene 2004;23:6445-6470.
    • (2004) Oncogene , vol.23 , pp. 6445-6470
    • Nagy, R.1    Sweet, K.2    Eng, C.3
  • 38
    • 0025668807 scopus 로고
    • Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO collaborating centre for the prevention of colorectal cancer
    • Burt RW, Bishop DT, Lynch HT, et al.: Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO collaborating centre for the prevention of colorectal cancer. Bull World Health Organ 1990;68:655-665.
    • (1990) Bull World Health Organ , vol.68 , pp. 655-665
    • Burt, R.W.1    Bishop, D.T.2    Lynch, H.T.3
  • 39
    • 0001886422 scopus 로고
    • Juvenile polyposis
    • Phillips RKS, Spigelman AD, Thompson JPS (eds). London: Edward Arnold
    • Jass JR: Juvenile polyposis. In: Phillips RKS, Spigelman AD, Thompson JPS (eds). Familial Adenomatous Polyposis and Other Polyposis Syndromes. London: Edward Arnold, 1994:203.
    • (1994) Familial Adenomatous Polyposis and Other Polyposis Syndromes , pp. 203
    • Jass, J.R.1
  • 40
    • 0032912245 scopus 로고    scopus 로고
    • Juvenile polyposis: Case report and assessment of the neoplastic risk in 271 patients reported in the literature
    • Agnifili A, Verzaro R, Gola P, et al.: Juvenile polyposis: Case report and assessment of the neoplastic risk in 271 patients reported in the literature. Dig Surg 1999;16:161-166.
    • (1999) Dig Surg , vol.16 , pp. 161-166
    • Agnifili, A.1    Verzaro, R.2    Gola, P.3
  • 41
    • 3342929410 scopus 로고    scopus 로고
    • Genetic conditions associated with intestinal juvenile polyps
    • Merg A, Howe JR: Genetic conditions associated with intestinal juvenile polyps. Am J Med Genet C Semin Med Genet 2004;129C: 44-55.
    • (2004) Am J Med Genet C Semin Med Genet , vol.129 , pp. 44-55
    • Merg, A.1    Howe, J.R.2
  • 42
    • 0036664427 scopus 로고    scopus 로고
    • Juvenile polyposis: Massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers
    • Friedl W, Uhlhaas S, Schulmann K, et al.: Juvenile polyposis: Massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Hum Genet 2002; 111:108-111.
    • (2002) Hum Genet , vol.111 , pp. 108-111
    • Friedl, W.1    Uhlhaas, S.2    Schulmann, K.3
  • 43
    • 84866239206 scopus 로고    scopus 로고
    • The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome
    • O'Malley M, LaGuardia L, Kalady MF, et al.: The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. Dis Colon Rectum 2012;55:886-892.
    • (2012) Dis Colon Rectum , vol.55 , pp. 886-892
    • O'Malley, M.1    Laguardia, L.2    Kalady, M.F.3
  • 44
    • 12144286738 scopus 로고    scopus 로고
    • A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)
    • Gallione CJ, Repetto GM, Legius E, et al.: A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004; 363:852-859.
    • (2004) Lancet , vol.363 , pp. 852-859
    • Gallione, C.J.1    Repetto, G.M.2    Legius, E.3
  • 45
    • 3142746721 scopus 로고    scopus 로고
    • The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations
    • Howe JR, Sayed MG, Ahmed AF, et al.: The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet 2004; 41:484-491.
    • (2004) J Med Genet , vol.41 , pp. 484-491
    • Howe, J.R.1    Sayed, M.G.2    Ahmed, A.F.3
  • 46
    • 36348937214 scopus 로고    scopus 로고
    • High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome
    • Aretz S, Stienen D, Uhlhaas S, et al.: High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet 2007; 44:702-709.
    • (2007) J Med Genet , vol.44 , pp. 702-709
    • Aretz, S.1    Stienen, D.2    Uhlhaas, S.3
  • 47
    • 42549147553 scopus 로고    scopus 로고
    • Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis
    • van Hattem WA, Brosens LA, de Leng WW, et al.: Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut 2008;57:623-627.
    • (2008) Gut , vol.57 , pp. 623-627
    • Van Hattem, W.A.1    Brosens, L.A.2    De Leng, W.W.3
  • 48
    • 27744511296 scopus 로고    scopus 로고
    • Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis
    • Sweet K, Willis J, Zhou XP, 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
  • 49
    • 13744254454 scopus 로고    scopus 로고
    • Colonic surgery in patients with juvenile polyposis syndrome: A case series
    • discussion 55-56
    • Oncel M, Church JM, Remzi FH, et al.: Colonic surgery in patients with juvenile polyposis syndrome: A case series. Dis Colon Rectum 2005;48:49-55discussion 55-56.
    • (2005) Dis Colon Rectum , vol.48 , pp. 49-55
    • Oncel, M.1    Church, J.M.2    Remzi, F.H.3
  • 50
    • 0032495530 scopus 로고    scopus 로고
    • A serine/threonine kinase gene defective in peutz-jeghers syndrome
    • Hemminki A, Markie D, Tomlinson I, et al.: A serine/threonine kinase gene defective in peutz-jeghers syndrome. Nature 1998;391: 184-187.
    • (1998) Nature , vol.391 , pp. 184-187
    • Hemminki, A.1    Markie, D.2    Tomlinson, I.3
  • 51
    • 0031974516 scopus 로고    scopus 로고
    • Peutz-jeghers syndrome is caused by mutations in a novel serine threonine kinase
    • Jenne DE, Reimann H, Nezu J, et al.: Peutz-jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 1998;18:38-43.
    • (1998) Nat Genet , vol.18 , pp. 38-43
    • Jenne, D.E.1    Reimann, H.2    Nezu, J.3
  • 53
    • 0016611185 scopus 로고
    • Peutz-jeghers syndrome: Its natural course and management
    • Utsunomiya J, Gocho H, Miyanaga T, et al.: Peutz-jeghers syndrome: Its natural course and management. Johns Hopkins Med J 1975;136:71-82.
    • (1975) Johns Hopkins Med J , vol.136 , pp. 71-82
    • Utsunomiya, J.1    Gocho, H.2    Miyanaga, T.3
  • 54
    • 0034464147 scopus 로고    scopus 로고
    • Very high risk of cancer in familial Peutz-Jeghers syndrome
    • Giardiello FM, Brensinger JD, Tersmette AC, 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
  • 56
    • 77953985258 scopus 로고    scopus 로고
    • Peutz-Jeghers syndrome: A systematic review and recommendations for management
    • Beggs AD, Latchford AR, Vasen HF, et al.: Peutz-Jeghers syndrome: A systematic review and recommendations for management. Gut 2010;59:975-986.
    • (2010) Gut , vol.59 , pp. 975-986
    • Beggs, A.D.1    Latchford, A.R.2    Vasen, H.F.3
  • 57
    • 4544267393 scopus 로고    scopus 로고
    • Benefits of 'clean sweep' in Peutz-Jeghers patients
    • Oncel M, Remzi FH, Church JM, et al.: Benefits of 'clean sweep' in Peutz-Jeghers patients. Colorectal Dis 2004;6:332-335.
    • (2004) Colorectal Dis , vol.6 , pp. 332-335
    • Oncel, M.1    Remzi, F.H.2    Church, J.M.3
  • 58
    • 85027931809 scopus 로고    scopus 로고
    • When overgrowth bumps into cancer: The PTENopathies
    • Mester J, Eng C: When overgrowth bumps into cancer: The PTENopathies. Am J Med Genet C Semin Med Genet 2013;163C:114-121.
    • (2013) Am J Med Genet C Semin Med Genet , vol.163 , pp. 114-121
    • Mester, J.1    Eng, C.2
  • 59
    • 78649707989 scopus 로고    scopus 로고
    • Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers
    • Heald B, Mester J, Rybicki L, et al.: Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology 2010;139:1927-1933.
    • (2010) Gastroenterology , vol.139 , pp. 1927-1933
    • Heald, B.1    Mester, J.2    Rybicki, L.3
  • 60
    • 84866070660 scopus 로고    scopus 로고
    • Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome
    • Mester J, Eng C: Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. Genet Med 2012;14:819-822.
    • (2012) Genet Med , vol.14 , pp. 819-822
    • Mester, J.1    Eng, C.2
  • 61
    • 0025848680 scopus 로고
    • The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC)
    • Vasen HF, Mecklin JP, Khan PM, 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
  • 62
    • 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 HF, Watson P, Mecklin JP, 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
  • 63
    • 10744233937 scopus 로고    scopus 로고
    • Revised bethesda guidelines for hereditary nonpolyposis colorectal cancer (lynch syndrome) and microsatellite instability
    • Umar A, Boland CR, Terdiman JP, 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
  • 64
    • 59849117793 scopus 로고    scopus 로고
    • Recommendations from the EGAPP working group: Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan?
    • Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Recommendations from the EGAPP working group: Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? Genet Med 2009;11:15-20.
    • (2009) Genet Med , vol.11 , pp. 15-20
  • 65
    • 0032552239 scopus 로고    scopus 로고
    • Clinical findings with implications for genetic testing in families with clustering of colorectal cancer
    • Wijnen JT, Vasen HF, Khan PM, 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
  • 66
    • 84876492979 scopus 로고    scopus 로고
    • Risk of cancer in cases of suspected lynch syndrome without germline mutation
    • e1quiz e13-e14
    • Rodriguez-Soler M, Perez-Carbonell L, Guarinos C, et al.: Risk of cancer in cases of suspected lynch syndrome without germline mutation. Gastroenterology 2013;144:926-932.e1quiz e13-e14.
    • (2013) Gastroenterology , vol.144 , pp. 926-932
    • Rodriguez-Soler, M.1    Perez-Carbonell, L.2    Guarinos, C.3
  • 67
    • 20244386256 scopus 로고    scopus 로고
    • Lower cancer incidence in amsterdam-I criteria families without mismatch repair deficiency: Familial colorectal cancer type X
    • Lindor NM, Rabe K, Petersen GM, 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
  • 68
    • 79958071334 scopus 로고    scopus 로고
    • Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in lynch syndrome
    • Bonadona V, Bonaiti B, Olschwang S, et al.: Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in lynch syndrome. JAMA 2011;305:2304-2310.
    • (2011) JAMA , vol.305 , pp. 2304-2310
    • Bonadona, V.1    Bonaiti, B.2    Olschwang, S.3
  • 69
    • 0035270235 scopus 로고    scopus 로고
    • Rectal cancer in hereditary nonpolyposis colorectal cancer
    • Lee JS, Petrelli NJ, Rodriguez-Bigas MA: Rectal cancer in hereditary nonpolyposis colorectal cancer. Am J Surg 2001;181: 207-210.
    • (2001) Am J Surg , vol.181 , pp. 207-210
    • Lee, J.S.1    Petrelli, N.J.2    Rodriguez-Bigas, M.A.3
  • 70
    • 79958200852 scopus 로고    scopus 로고
    • Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: The advantage of more extensive colon surgery
    • Parry S, Win AK, Parry B, et al.: Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: The advantage of more extensive colon surgery. Gut 2011;60:950-957.
    • (2011) Gut , vol.60 , pp. 950-957
    • Parry, S.1    Win, A.K.2    Parry, B.3
  • 71
    • 77956105974 scopus 로고    scopus 로고
    • Risk of urothelial bladder cancer in lynch syndrome is increased, in particular among MSH2 mutation carriers
    • van der Post RS, Kiemeney LA, Ligtenberg MJ, et al.: Risk of urothelial bladder cancer in lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet 2010;47: 464-470.
    • (2010) J Med Genet , vol.47 , pp. 464-470
    • Van Der Post, R.S.1    Kiemeney, L.A.2    Ligtenberg, M.J.3
  • 72
    • 33644864321 scopus 로고    scopus 로고
    • Decrease in mortality in lynch syndrome families because of surveillance
    • de Jong AE, Hendriks YM, Kleibeuker JH, 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
  • 73
    • 75349092528 scopus 로고    scopus 로고
    • Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer
    • Engel C, Rahner N, Schulmann K, et al.: Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol 2010;8: 174-182.
    • (2010) Clin Gastroenterol Hepatol , vol.8 , pp. 174-182
    • Engel, C.1    Rahner, N.2    Schulmann, K.3
  • 74
    • 61949256316 scopus 로고    scopus 로고
    • American college of gastroenterology guidelines for colorectal cancer screening 2009 [corrected]
    • Rex DK, Johnson DA, Anderson JC, et al.: American college of gastroenterology guidelines for colorectal cancer screening 2009 [corrected]. Am J Gastroenterol 2009;104:739-750.
    • (2009) Am J Gastroenterol , vol.104 , pp. 739-750
    • Rex, D.K.1    Johnson, D.A.2    Anderson, J.C.3
  • 75
    • 33749067855 scopus 로고    scopus 로고
    • Recommendations for the care of individuals with an inherited predisposition to lynch syndrome: A systematic review
    • Lindor NM, Petersen GM, Hadley DW, 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
  • 76
    • 79961201212 scopus 로고    scopus 로고
    • Surgical management of hereditary nonpolyposis colorectal cancer
    • Kalady MF: Surgical management of hereditary nonpolyposis colorectal cancer. Adv Surg 2011;45:265-274.
    • (2011) Adv Surg , vol.45 , pp. 265-274
    • Kalady, M.F.1
  • 77
    • 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, Gerdes AM, Macrae F, 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 2011;378: 2081-2087.
    • (2011) Lancet , vol.378 , pp. 2081-2087
    • Burn, J.1    Gerdes, A.M.2    Macrae, F.3
  • 78
    • 59149099120 scopus 로고    scopus 로고
    • Hereditary non-polyposis colorectal cancer or lynch syndrome: The gynaecological perspective
    • Manchanda R, Menon U, Michaelson-Cohen R, et al.: Hereditary non-polyposis colorectal cancer or lynch syndrome: The gynaecological perspective. Curr Opin Obstet Gynecol 2009;21:31-38.
    • (2009) Curr Opin Obstet Gynecol , vol.21 , pp. 31-38
    • Manchanda, R.1    Menon, U.2    Michaelson-Cohen, R.3
  • 79
    • 30944457531 scopus 로고    scopus 로고
    • Prophylactic surgery to reduce the risk of gynecologic cancers in the lynch syndrome
    • Schmeler KM, Lynch HT, Chen LM, et al.: Prophylactic surgery to reduce the risk of gynecologic cancers in the lynch syndrome. N Engl J Med 2006;354:261-269.
    • (2006) N Engl J Med , vol.354 , pp. 261-269
    • Schmeler, K.M.1    Lynch, H.T.2    Chen, L.M.3
  • 80
    • 13944260884 scopus 로고    scopus 로고
    • Gynecologic cancer as a "sentinel cancer" for women with hereditary nonpolyposis colorectal cancer syndrome
    • Lu KH, Dinh M, Kohlmann W, et al.: Gynecologic cancer as a "sentinel cancer" for women with hereditary nonpolyposis colorectal cancer syndrome. Obstet Gynecol 2005;105:569-574.
    • (2005) Obstet Gynecol , vol.105 , pp. 569-574
    • Lu, K.H.1    Dinh, M.2    Kohlmann, W.3
  • 81
    • 0031551963 scopus 로고    scopus 로고
    • A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: Meeting highlights and bethesda guidelines
    • Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al.: A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: Meeting highlights and bethesda guidelines. J Natl Cancer Inst 1997;89:1758-1762.
    • (1997) J Natl Cancer Inst , vol.89 , pp. 1758-1762
    • Rodriguez-Bigas, M.A.1    Boland, C.R.2    Hamilton, S.R.3


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