메뉴 건너뛰기




Volumn 71, Issue 5, 2007, Pages 427-433

Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis

Author keywords

Adenomatous polyposis coli; Associated polyposis; Attenuated familial adenomatous polyposis; Colorectal cancer; MUTYH; MYH; Polyposis

Indexed keywords

APC PROTEIN; DNA GLYCOSYLASE MUTY;

EID: 34248356377     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00766.x     Document Type: Article
Times cited : (132)

References (36)
  • 1
    • 0027763498 scopus 로고
    • Molecular diagnosis of familial adenomatous polyposis
    • Powell SM, Petersen GM, Krush AJ et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993: 329 (27): 1982-1987.
    • (1993) N Engl J Med , vol.329 , Issue.27 , pp. 1982-1987
    • Powell, S.M.1    Petersen, G.M.2    Krush, A.J.3
  • 2
    • 16944362068 scopus 로고    scopus 로고
    • Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis
    • van der Luijt RB, Khan PM, Vasen HF et al. Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis. Hum Mutat 1997: 9 (1): 7-16.
    • (1997) Hum Mutat , vol.9 , Issue.1 , pp. 7-16
    • van der Luijt, R.B.1    Khan, P.M.2    Vasen, H.F.3
  • 4
    • 0025354907 scopus 로고
    • Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps
    • Leppert M, Burt R, Hughes JP et al. Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps. N Engl J Med 1990: 322 (13): 904-908.
    • (1990) N Engl J Med , vol.322 , Issue.13 , pp. 904-908
    • Leppert, M.1    Burt, R.2    Hughes, J.P.3
  • 5
    • 0026717985 scopus 로고
    • Hereditary flat adenoma syndrome: A variant of familial adenomatous polyposis?
    • Lynch HT, Smyrk TC, Watson P et al. Hereditary flat adenoma syndrome: A variant of familial adenomatous polyposis? Dis Colon Rectum 1992: 35 (5): 411-421.
    • (1992) Dis Colon Rectum , vol.35 , Issue.5 , pp. 411-421
    • Lynch, H.T.1    Smyrk, T.C.2    Watson, P.3
  • 6
    • 0026664339 scopus 로고
    • Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus
    • Spirio L, Otterud B, Stauffer D et al. Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus. Am J Hum Genet 1992: 51 (1): 92-100.
    • (1992) Am J Hum Genet , vol.51 , Issue.1 , pp. 92-100
    • Spirio, L.1    Otterud, B.2    Stauffer, D.3
  • 7
    • 0031691330 scopus 로고    scopus 로고
    • Variable phenotype of familial adenomatous polyposis in pedigrees with 3′ mutation in the APC gene
    • Brensinger JD, Laken SJ, Luce MC et al. Variable phenotype of familial adenomatous polyposis in pedigrees with 3′ mutation in the APC gene. Gut 1998: 43 (4): 548-552.
    • (1998) Gut , vol.43 , Issue.4 , pp. 548-552
    • Brensinger, J.D.1    Laken, S.J.2    Luce, M.C.3
  • 8
    • 6844252957 scopus 로고    scopus 로고
    • Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli
    • van der Luijt RB, Meera KP, Vasen HF et al. Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum Genet 1996: 98 (6): 727-734.
    • (1996) Hum Genet , vol.98 , Issue.6 , pp. 727-734
    • van der Luijt, R.B.1    Meera, K.P.2    Vasen, H.F.3
  • 9
    • 0037961628 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis (AFAP). A review of the literature
    • Knudsen AL, Bisgaard ML, Bulow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer 2003: 2 (1): 43-55.
    • (2003) Fam Cancer , vol.2 , Issue.1 , pp. 43-55
    • Knudsen, A.L.1    Bisgaard, M.L.2    Bulow, S.3
  • 10
    • 0028014412 scopus 로고
    • Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death
    • Varesco L, Gismondi V, Presciuttini S et al. Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death. Hum Genet 1994: 93 (3): 281-286.
    • (1994) Hum Genet , vol.93 , Issue.3 , pp. 281-286
    • Varesco, L.1    Gismondi, V.2    Presciuttini, S.3
  • 11
    • 0028807360 scopus 로고
    • APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis
    • van der Luijt RB, Vasen HF, Tops CM et al. APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis. Hum Genet 1995: 96 (6): 705-710.
    • (1995) Hum Genet , vol.96 , Issue.6 , pp. 705-710
    • van der Luijt, R.B.1    Vasen, H.F.2    Tops, C.M.3
  • 12
    • 0029897836 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein
    • Friedl W, Meuschel S, Caspari R et al. Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein. Hum Genet 1996: 97 (5): 579-584.
    • (1996) Hum Genet , vol.97 , Issue.5 , pp. 579-584
    • Friedl, W.1    Meuschel, S.2    Caspari, R.3
  • 13
    • 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 (6): 1290-1301.
    • (1998) Am J Hum Genet , vol.62 , Issue.6 , pp. 1290-1301
    • Soravia, C.1    Berk, T.2    Madlensky, L.3
  • 14
    • 33749185580 scopus 로고    scopus 로고
    • Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly, but depend on the site of the germline mutation
    • Sieber O, Segditsas S, Knudsen A et al. Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly, but depend on the site of the germline mutation. Gut 2006: 55 (10): 1440-1448.
    • (2006) Gut , vol.55 , Issue.10 , pp. 1440-1448
    • Sieber, O.1    Segditsas, S.2    Knudsen, A.3
  • 15
    • 0031772123 scopus 로고    scopus 로고
    • Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps
    • Spirio LN, Samowitz W, Robertson J et al. Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps. Nat Genet 1998: 20 (4): 385-388.
    • (1998) Nat Genet , vol.20 , Issue.4 , pp. 385-388
    • Spirio, L.N.1    Samowitz, W.2    Robertson, J.3
  • 16
    • 0033842968 scopus 로고    scopus 로고
    • Inactivation of germline mutant APC alleles by attenuated somatic mutations: A molecular genetic mechanism for attenuated familial adenomatous polyposis
    • Su LK, Barnes CJ, Yao W et al. Inactivation of germline mutant APC alleles by attenuated somatic mutations: A molecular genetic mechanism for attenuated familial adenomatous polyposis. Am J Hum Genet 2000: 67 (3): 582-590.
    • (2000) Am J Hum Genet , vol.67 , Issue.3 , pp. 582-590
    • Su, L.K.1    Barnes, C.J.2    Yao, W.3
  • 17
    • 0036664774 scopus 로고    scopus 로고
    • Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15
    • Su LK, Kohlmann W, Ward PA, Lynch PM et al. Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15. Hum Genet 2002: 111 (1): 88-95.
    • (2002) Hum Genet , vol.111 , Issue.1 , pp. 88-95
    • Su, L.K.1    Kohlmann, W.2    Ward, P.A.3    Lynch, P.M.4
  • 18
    • 0028271193 scopus 로고
    • Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation
    • Giardiello FM, Krush AJ, Petersen GM et al. Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation. Gastroenterology 1994: 106 (6): 1542-1547.
    • (1994) Gastroenterology , vol.106 , Issue.6 , pp. 1542-1547
    • Giardiello, F.M.1    Krush, A.J.2    Petersen, G.M.3
  • 19
    • 4143082647 scopus 로고    scopus 로고
    • Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis
    • Burt RW, Leppert MF, Slattery ML et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 2004: 127 (2): 444-451.
    • (2004) Gastroenterology , vol.127 , Issue.2 , pp. 444-451
    • Burt, R.W.1    Leppert, M.F.2    Slattery, M.L.3
  • 20
    • 0036314204 scopus 로고    scopus 로고
    • Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: Case report with review of the literature
    • Cao Y, Pieretti M, Marshall J et al. Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: Case report with review of the literature. Am J Gastroenterol 2002: 97 (7): 1822-1827.
    • (2002) Am J Gastroenterol , vol.97 , Issue.7 , pp. 1822-1827
    • Cao, Y.1    Pieretti, M.2    Marshall, J.3
  • 21
    • 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 (2): 227-232.
    • (2002) Nat Genet , vol.30 , Issue.2 , pp. 227-232
    • Al Tassan, N.1    Chmiel, N.H.2    Maynard, J.3
  • 22
    • 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 (9): 791-799.
    • (2003) N Engl J Med , vol.348 , Issue.9 , pp. 791-799
    • Sieber, O.M.1    Lipton, L.2    Crabtree, M.3
  • 23
    • 12144289614 scopus 로고    scopus 로고
    • Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas
    • Gismondi V, Meta M, Bonelli L et al. Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int J Cancer 2004: 109 (5): 680-684.
    • (2004) Int J Cancer , vol.109 , Issue.5 , pp. 680-684
    • Gismondi, V.1    Meta, M.2    Bonelli, L.3
  • 24
    • 33746775351 scopus 로고    scopus 로고
    • Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)
    • Nielsen M, Franken PF, Reinards TH et al. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated poEyposis coli (MAP). J Med Genet 2005: 42 (9): e54.
    • (2005) J Med Genet , vol.42 , Issue.9
    • Nielsen, M.1    Franken, P.F.2    Reinards, T.H.3
  • 25
    • 7944225535 scopus 로고    scopus 로고
    • Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk
    • Croitoru ME, Cleary SP, Di Nicola N et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst 2004: 96 (21): 1631-1634.
    • (2004) J Natl Cancer Inst , vol.96 , Issue.21 , pp. 1631-1634
    • Croitoru, M.E.1    Cleary, S.P.2    Di Nicola, N.3
  • 26
    • 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 (1): 112-119.
    • (2005) Am J Hum Genet , vol.77 , Issue.1 , pp. 112-119
    • Farrington, S.M.1    Tenesa, A.2    Barnetson, R.3
  • 27
    • 0025286459 scopus 로고
    • The value of screening and central registration of families with familial adenomatous polyposis. A study of 82 families in The Netherlands
    • Vasen HF, Griffioen G, Offerhaus GJ et al. The value of screening and central registration of families with familial adenomatous polyposis. A study of 82 families in The Netherlands. Dis Colon Rectum 1990: 33 (3): 227-230.
    • (1990) Dis Colon Rectum , vol.33 , Issue.3 , pp. 227-230
    • Vasen, H.F.1    Griffioen, G.2    Offerhaus, G.J.3
  • 28
    • 10744232899 scopus 로고    scopus 로고
    • Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer
    • de Jong AE, Van Puijenbroek M, Hendriks Y et al. Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res 2004: 10 (3): 972-980.
    • (2004) Clin Cancer Res , vol.10 , Issue.3 , pp. 972-980
    • de Jong, A.E.1    Van Puijenbroek, M.2    Hendriks, Y.3
  • 29
    • 8144219537 scopus 로고    scopus 로고
    • Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the APC gene
    • Aretz S, Uhlhaas S, Sun Y et al. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. Hum Mutat 2004: 24 (5): 370-380.
    • (2004) Hum Mutat , vol.24 , Issue.5 , pp. 370-380
    • Aretz, S.1    Uhlhaas, S.2    Sun, Y.3
  • 30
    • 13444311812 scopus 로고    scopus 로고
    • Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis
    • Aretz S, Stienen D, Uhlhaas S et al. Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. J Med Genet 2005: 42 (2): 185-192.
    • (2005) J Med Genet , vol.42 , Issue.2 , pp. 185-192
    • Aretz, S.1    Stienen, D.2    Uhlhaas, S.3
  • 31
    • 0035076731 scopus 로고    scopus 로고
    • Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families
    • Friedl W, Caspari R, Sengteller M et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 2001: 48 (4): 515-521.
    • (2001) Gut , vol.48 , Issue.4 , pp. 515-521
    • Friedl, W.1    Caspari, R.2    Sengteller, M.3
  • 32
    • 0000778913 scopus 로고    scopus 로고
    • Guidelines for the surveillance and management of familial adenomatous polyposis (FAP): A world wide survey among 41 registries
    • Vasen HFA, Bulow S. Guidelines for the surveillance and management of familial adenomatous polyposis (FAP): A world wide survey among 41 registries. Colorectal Dis 2003: 1 (4): 214.
    • (2003) Colorectal Dis , vol.1 , Issue.4 , pp. 214
    • Vasen, H.F.A.1    Bulow, S.2
  • 33
    • 0034065606 scopus 로고    scopus 로고
    • When should endoscopic screening in familial adenomatous polyposis be started?
    • Vasen HF. When should endoscopic screening in familial adenomatous polyposis be started? Gastroenterology 2000: 118 (4): 808-809.
    • (2000) Gastroenterology , vol.118 , Issue.4 , pp. 808-809
    • Vasen, H.F.1
  • 34
  • 35
    • 0022632216 scopus 로고
    • Clinical features in familial polyposis coli. Results of the Danish polyposis register
    • Bulow S. Clinical features in familial polyposis coli. Results of the Danish polyposis register. Dis Colon Rectum 1986: 29 (2): 102-107.
    • (1986) Dis Colon Rectum , vol.29 , Issue.2 , pp. 102-107
    • Bulow, S.1
  • 36
    • 33745903402 scopus 로고    scopus 로고
    • MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype
    • Aretz S, Uhlhaas S, Goergens H et al. MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 2006: 119 (4): 807-814.
    • (2006) Int J Cancer , vol.119 , Issue.4 , pp. 807-814
    • Aretz, S.1    Uhlhaas, S.2    Goergens, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.