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Volumn 15, Issue 1, 2013, Pages 31-43

APC germline mutations in individuals being evaluated for familial adenomatous polyposis: A review of the mayo clinic experience with 1591 consecutive tests

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN;

EID: 84875443082     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2012.07.005     Document Type: Article
Times cited : (66)

References (91)
  • 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, Wood C, Lalloo F, Cachon-Gonzalez MB, Tsioupra K, Church W, Rhodes M, Gunn A: 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    Wood, C.4    Lalloo, F.5    Cachon-Gonzalez, M.B.6    Tsioupra, K.7    Church, W.8    Rhodes, M.9    Gunn, A.10
  • 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
  • 9
    • 33745282944 scopus 로고    scopus 로고
    • Familial adenomatous polyposis: Experience from a study of 1164 unrelated German polyposis patients
    • Friedl W, Aretz S: Familial adenomatous polyposis: experience from a study of 1164 unrelated German polyposis patients. Hered Cancer Clin Pract 2005, 3:95-114
    • (2005) Hered Cancer Clin Pract , vol.3 , pp. 95-114
    • Friedl, W.1    Aretz, S.2
  • 13
    • 66349088754 scopus 로고    scopus 로고
    • Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques
    • Rohlin A, Wernersson J, Engwall Y, Wiklund L, Bjork J, Nordling M: Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum Mutat 2009, 30: 1012-1020
    • (2009) Hum Mutat , vol.30 , pp. 1012-1020
    • Rohlin, A.1    Wernersson, J.2    Engwall, Y.3    Wiklund, L.4    Bjork, J.5    Nordling, M.6
  • 16
    • 0028350369 scopus 로고
    • Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate
    • Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J: 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    Niebuhr, E.4    Mohr, J.5
  • 17
    • 33645998969 scopus 로고    scopus 로고
    • Cribriform-morular variant of papillary carcinoma: Association with familial adenomatous polyposis: Report of three cases and review of literature
    • Chikkamuniyappa S, Jagirdar J: Cribriform-morular variant of papillary carcinoma: association with familial adenomatous polyposis: report of three cases and review of literature. Int J Med Sci 2004, 1: 43-49
    • (2004) Int J Med Sci , vol.1 , pp. 43-49
    • Chikkamuniyappa, S.1    Jagirdar, J.2
  • 18
    • 0028117866 scopus 로고
    • Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis
    • Wallis YL, Macdonald F, Hulten M, Morton JE, McKeown CM, Neoptolemos JP, Keighley M, Morton DG: Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis. Hum Genet 1994, 94:543-548
    • (1994) Hum Genet , vol.94 , pp. 543-548
    • Wallis, Y.L.1    MacDonald, F.2    Hulten, M.3    Morton, J.E.4    McKeown, C.M.5    Neoptolemos, J.P.6    Keighley, M.7    Morton, D.G.8
  • 20
    • 0032947835 scopus 로고    scopus 로고
    • Molecular analysis of the APC gene in 205 families: Extended genotypephenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition
    • Wallis YL, Morton DG, McKeown CM, Macdonald F: Molecular analysis of the APC gene in 205 families: extended genotypephenotype 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    MacDonald, F.4
  • 22
    • 0033673154 scopus 로고    scopus 로고
    • The adenomatous polyposis coli (APC) tumour suppressor-genetics, function and disease
    • Sieber OM, Tomlinson IP, Lamlum H: The adenomatous polyposis coli (APC) tumour suppressor-genetics, function and disease. Mol Med Today 2000, 6:462-469
    • (2000) Mol Med Today , vol.6 , pp. 462-469
    • Sieber, O.M.1    Tomlinson, I.P.2    Lamlum, H.3
  • 24
    • 56749160290 scopus 로고    scopus 로고
    • Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance
    • Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE: Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. J Clin Oncol 2008, 26: 5393-5400
    • (2008) J Clin Oncol , vol.26 , pp. 5393-5400
    • Spearman, A.D.1    Sweet, K.2    Zhou, X.P.3    McLennan, J.4    Couch, F.J.5    Toland, A.E.6
  • 32
    • 0036547181 scopus 로고    scopus 로고
    • APC germline mutations identified in Czech patients with familial adenomatous polyposis
    • Kohoutova M, Stekrova J, Jirasek V, Kapras J: APC germline mutations identified in Czech patients with familial adenomatous polyposis. Hum Mutat 2002, 19:460-461
    • (2002) Hum Mutat , vol.19 , pp. 460-461
    • Kohoutova, M.1    Stekrova, J.2    Jirasek, V.3    Kapras, J.4
  • 33
    • 0030736616 scopus 로고    scopus 로고
    • APC mutations in familial adenomatous polyposis families in the Northwest of England
    • Armstrong JG, Davies DR, Guy SP, Frayling IM, Evans DG: APC mutations in familial adenomatous polyposis families in the Northwest of England. Hum Mutat 1997, 10:376-380
    • (1997) Hum Mutat , vol.10 , pp. 376-380
    • Armstrong, J.G.1    Davies, D.R.2    Guy, S.P.3    Frayling, I.M.4    Evans, D.G.5
  • 34
    • 0027417312 scopus 로고
    • Germline mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene
    • Olschwang S, Laurent-Puig P, Groden J, White R, Thomas G: Germline mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. Am J Hum Genet 1993, 52:273-279
    • (1993) Am J Hum Genet , vol.52 , pp. 273-279
    • Olschwang, S.1    Laurent-Puig, P.2    Groden, J.3    White, R.4    Thomas, G.5
  • 35
    • 58149105422 scopus 로고    scopus 로고
    • Broad phenotypic spectrum in familial adenomatous polyposis; From early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72
    • Nilbert M, Kristoffersson U, Ericsson M, Johannsson O, Rambech E, Mangell P: Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72. BMC Med Genet 2008, 9:101
    • (2008) BMC Med Genet , vol.9 , pp. 101
    • Nilbert, M.1    Kristoffersson, U.2    Ericsson, M.3    Johannsson, O.4    Rambech, E.5    Mangell, P.6
  • 37
    • 0035726850 scopus 로고    scopus 로고
    • Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing highperformance liquid chromatography
    • Wu G, Wu W, Hegde M, Fawkner M, Chong B, Love D, Su LK, Lynch P, Snow K, Richards CS: Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing highperformance liquid chromatography. Genet Test 2001, 5:281-290
    • (2001) Genet Test , vol.5 , pp. 281-290
    • Wu, G.1    Wu, W.2    Hegde, M.3    Fawkner, M.4    Chong, B.5    Love, D.6    Su, L.K.7    Lynch, P.8    Snow, K.9    Richards, C.S.10
  • 40
    • 0042632641 scopus 로고    scopus 로고
    • Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography
    • Heinritz W, Kujat A, Froster UG: Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography. Clin Genet 2003, 63:325-327
    • (2003) Clin Genet , vol.63 , pp. 325-327
    • Heinritz, W.1    Kujat, A.2    Froster, U.G.3
  • 42
    • 0036175211 scopus 로고    scopus 로고
    • Serrated adenoma in familial adenomatous polyposis: Relation to germline APC gene mutation
    • Matsumoto T, Iida M, Kobori Y, Mizuno M, Nakamura S, Hizawa K, Yao T: Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation. Gut 2002, 50:402-404
    • (2002) Gut , vol.50 , pp. 402-404
    • Matsumoto, T.1    Iida, M.2    Kobori, Y.3    Mizuno, M.4    Nakamura, S.5    Hizawa, K.6    Yao, T.7
  • 49
    • 4143106996 scopus 로고    scopus 로고
    • Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization
    • Cowie S, Drmanac S, Swanson D, Delgrosso K, Huang S, du Sart D, Drmanac R, Surrey S, Fortina P: Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by- hybridization. Hum Mutat 2004, 24:261-271
    • (2004) Hum Mutat , vol.24 , pp. 261-271
    • Cowie, S.1    Drmanac, S.2    Swanson, D.3    Delgrosso, K.4    Huang, S.5    Du Sart, D.6    Drmanac, R.7    Surrey, S.8    Fortina, P.9
  • 53
    • 0032962869 scopus 로고    scopus 로고
    • Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: Evidence for phenotypic differences in cases with and without identified mutation
    • Giarola M, Stagi L, Presciuttini S, Mondini P, Radice MT, Sala P, Pierotti MA, Bertario L, Radice P: Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation. Hum Mutat 1999, 13:116-123
    • (1999) Hum Mutat , vol.13 , pp. 116-123
    • Giarola, M.1    Stagi, L.2    Presciuttini, S.3    Mondini, P.4    Radice, M.T.5    Sala, P.6    Pierotti, M.A.7    Bertario, L.8    Radice, P.9
  • 54
    • 0033513022 scopus 로고    scopus 로고
    • Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli
    • Gebert JF, Dupon C, Kadmon M, Hahn M, Herfarth C, von Knebel Doeberitz M, Schackert HK: Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli. Ann Surg 1999, 229:350-361
    • (1999) Ann Surg , vol.229 , pp. 350-361
    • Gebert, J.F.1    Dupon, C.2    Kadmon, M.3    Hahn, M.4    Herfarth, C.5    Von Knebel Doeberitz, M.6    Schackert, H.K.7
  • 58
    • 0033636874 scopus 로고    scopus 로고
    • Novel germline APC mutations in Swedish patients with familial adenomatous polyposis and Gardner syndrome
    • Nilbert M, Fernebro J, Kristoffersson U: Novel germline APC mutations in Swedish patients with familial adenomatous polyposis and Gardner syndrome. Scand J Gastroenterol 2000, 35:1200-1203
    • (2000) Scand J Gastroenterol , vol.35 , pp. 1200-1203
    • Nilbert, M.1    Fernebro, J.2    Kristoffersson, U.3
  • 59
    • 2342453955 scopus 로고    scopus 로고
    • Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations
    • Vandrovcova J, Stekrova J, Kebrdlova V, Kohoutova M: Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations. Hum Mutat 2004, 23:397
    • (2004) Hum Mutat , vol.23 , pp. 397
    • Vandrovcova, J.1    Stekrova, J.2    Kebrdlova, V.3    Kohoutova, M.4
  • 60
    • 17844378740 scopus 로고    scopus 로고
    • APCgerm-line mutations in southern Spanish patients with familial adenomatous polyposis: Genotype-phenotype correlations and identification of eight novel mutations
    • Garcia-Lozano JR, Cordero C, Fernandez-Suarez A, Encarnacion M, PizarroA, Nunez-Roldan A:APCgerm-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations.Genet Test 2005, 9: 37-40
    • (2005) Genet Test , vol.9 , pp. 37-40
    • Garcia-Lozano, J.R.1    Cordero, C.2    Fernandez-Suarez, A.3    Encarnacion, M.4    Pizarro, A.5    Nunez-Roldan, A.6
  • 61
    • 0028091285 scopus 로고
    • Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis
    • Mandl M, Paffenholz R, Friedl W, Caspari R, Sengteller M, Propping P: Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. Hum Mol Genet 1994, 3:181-184
    • (1994) Hum Mol Genet , vol.3 , pp. 181-184
    • Mandl, M.1    Paffenholz, R.2    Friedl, W.3    Caspari, R.4    Sengteller, M.5    Propping, P.6
  • 62
    • 64249120823 scopus 로고    scopus 로고
    • Novel human pathological mutations; Gene symbol: APC; Disease: Adenomatous polyposis coli
    • Mavrogiannis LA, Chu CE, Charlton RS: Novel human pathological mutations; gene symbol: aPC; disease: adenomatous polyposis coli. Human Genetics 2009, 126:333
    • (2009) Human Genetics , vol.126 , pp. 333
    • Mavrogiannis, L.A.1    Chu, C.E.2    Charlton, R.S.3
  • 66
    • 33845408501 scopus 로고    scopus 로고
    • Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression
    • Cao X, Hong Y, Eu KW, Loi C, Cheah PY: Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression. Am J Gastroenterol 2006, 101:2810-2817
    • (2006) Am J Gastroenterol , vol.101 , pp. 2810-2817
    • Cao, X.1    Hong, Y.2    Eu, K.W.3    Loi, C.4    Cheah, P.Y.5
  • 70
    • 0032612934 scopus 로고    scopus 로고
    • Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online
    • Scarano MI, De Rosa M, Panariello L, Carlomagno N, Riegler G, Rossi GB, Bucci L, Pesce G, Toni F, Renda A, Izzo P: Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online. Hum Mutat 1999, 13:256-257
    • (1999) Hum Mutat , vol.13 , pp. 256-257
    • Scarano, M.I.1    De Rosa, M.2    Panariello, L.3    Carlomagno, N.4    Riegler, G.5    Rossi, G.B.6    Bucci, L.7    Pesce, G.8    Toni, F.9    Renda, A.10    Izzo, P.11
  • 73
    • 0035657362 scopus 로고    scopus 로고
    • Congenital hypertrophy of the retinal pigment epithelium and APC mutations in Chinese with familial adenomatous polyposis
    • Pang CP, Fan DS, Keung JW, Baum L, Tang NL, Lau JW, Lam DS: Congenital hypertrophy of the retinal pigment epithelium and APC mutations in Chinese with familial adenomatous polyposis. Ophthalmologica 2001, 215:408-411
    • (2001) Ophthalmologica , vol.215 , pp. 408-411
    • Pang, C.P.1    Fan, D.S.2    Keung, J.W.3    Baum, L.4    Tang, N.L.5    Lau, J.W.6    Lam, D.S.7
  • 74
    • 0027320554 scopus 로고
    • Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis
    • Paul P, Letteboer T, Gelbert L, Groden J, White R, Coppes MJ: Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis. Hum Mol Genet 1993, 2:925-931
    • (1993) Hum Mol Genet , vol.2 , pp. 925-931
    • Paul, P.1    Letteboer, T.2    Gelbert, L.3    Groden, J.4    White, R.5    Coppes, M.J.6
  • 76
    • 0028943098 scopus 로고
    • Genetic counselling and gene mutation analysis in familial adenomatous polyposis in Western Australia
    • Walpole IR, Kool DA, Edkins T, Creegan R, Levitt S, Francis ST, Goldblatt J: Genetic counselling and gene mutation analysis in familial adenomatous polyposis in Western Australia. Med J Aust 1995, 162: 464-467
    • (1995) Med J Aust , vol.162 , pp. 464-467
    • Walpole, I.R.1    Kool, D.A.2    Edkins, T.3    Creegan, R.4    Levitt, S.5    Francis, S.T.6    Goldblatt, J.7
  • 78
    • 56649112785 scopus 로고    scopus 로고
    • APC gene mutations causing familial adenomatous polyposis in Polish patients
    • Plawski A, Slomski R: APC gene mutations causing familial adenomatous polyposis in Polish patients. J Appl Genet 2008, 49:407-414
    • (2008) J Appl Genet , vol.49 , pp. 407-414
    • Plawski, A.1    Slomski, R.2
  • 79
    • 0034099230 scopus 로고    scopus 로고
    • Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis
    • Su LK, Steinbach G, Sawyer JC, Hindi M, Ward PA, Lynch PM: Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis. Hum Genet 2000, 106:101-107
    • (2000) Hum Genet , vol.106 , pp. 101-107
    • Su, L.K.1    Steinbach, G.2    Sawyer, J.C.3    Hindi, M.4    Ward, P.A.5    Lynch, P.M.6
  • 81
    • 0027194565 scopus 로고
    • The APC (adenomatous polyposis coli) gene: A novel mutation in an FAP patient and a DdeI polymorphism in the 50 noncoding region
    • Mori T, Nagase H, Aoki T, Arakawa H, Nishihira T, Mori S, Nakamura Y: The APC (adenomatous polyposis coli) gene: a novel mutation in an FAP patient and a DdeI polymorphism in the 50 noncoding region. Hum Mutat 1993, 2:240-243
    • (1993) Hum Mutat , vol.2 , pp. 240-243
    • Mori, T.1    Nagase, H.2    Aoki, T.3    Arakawa, H.4    Nishihira, T.5    Mori, S.6    Nakamura, Y.7
  • 82
    • 0028289053 scopus 로고
    • Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test
    • van der Luijt R, Khan PM, Vasen H, van Leeuwen C, Tops C, Roest P, den Dunnen J, Fodde R: Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 1994, 20:1-4
    • (1994) Genomics , vol.20 , pp. 1-4
    • Van Der Luijt, R.1    Khan, P.M.2    Vasen, H.3    Van Leeuwen, C.4    Tops, C.5    Roest, P.6    Den Dunnen, J.7    Fodde, R.8
  • 83
    • 0028085264 scopus 로고
    • Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli
    • Gayther SA, Wells D, SenGupta SB, Chapman P, Neale K, Tsioupra K, Delhanty JD: Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli. Hum Mol Genet 1994, 3:53-56
    • (1994) Hum Mol Genet , vol.3 , pp. 53-56
    • Gayther, S.A.1    Wells, D.2    Sengupta, S.B.3    Chapman, P.4    Neale, K.5    Tsioupra, K.6    Delhanty, J.D.7
  • 84
    • 0035542935 scopus 로고    scopus 로고
    • A novel 30 mutation in the APC gene in a family presenting with a desmoid tumour
    • Eccles D, Harvey J, Bateman A, Ross F: A novel 30 mutation in the APC gene in a family presenting with a desmoid tumour. J Med Genet 2001, 38:861-863
    • (2001) J Med Genet , vol.38 , pp. 861-863
    • Eccles, D.1    Harvey, J.2    Bateman, A.3    Ross, F.4
  • 88
    • 0035024778 scopus 로고    scopus 로고
    • Topoisomerase-Iand Alu-mediated genomic deletions of the APC gene in familial adenomatous polyposis
    • Cao X, Eu KW, Seow-Choen F, Zhao Y, Cheah PY: Topoisomerase-Iand Alu-mediated genomic deletions of the APC gene in familial adenomatous polyposis. Hum Genet 2001, 108:436-442
    • (2001) Hum Genet , vol.108 , pp. 436-442
    • Cao, X.1    Eu, K.W.2    Seow-Choen, F.3    Zhao, Y.4    Cheah, P.Y.5
  • 91
    • 80054041995 scopus 로고    scopus 로고
    • The coming explosion in genetic testing-is there a duty to recontact?
    • Pyeritz RE: The coming explosion in genetic testing-is there a duty to recontact? N Engl J Med 2011, 365:1367-1369
    • (2011) N Engl J Med , vol.365 , pp. 1367-1369
    • Pyeritz, R.E.1


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