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Volumn 5, Issue 4, 2006, Pages 397-404

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

Author keywords

CHRPE; Familial adenomatous polyposis; Familial colorectal cancer

Indexed keywords

ADENOMATOUS POLYP; ADULT; AGED; APC GENE; ARTICLE; CANCER DIAGNOSIS; CLINICAL ARTICLE; COHORT ANALYSIS; COLORECTAL CANCER; CONGENITAL HYPERTROPHY OF THE RETINAL PIGMENT EPITHELIUM; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE; GENE MUTATION; HUMAN; MALE; MICROSATELLITE INSTABILITY; OPHTHALMOSCOPY; PATHOGENESIS; PIGMENTATION; PREVALENCE; PRIORITY JOURNAL; RETINA DISEASE; RISK ASSESSMENT;

EID: 33845513744     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-006-0011-y     Document Type: Article
Times cited : (35)

References (43)
  • 2
    • 8244252293 scopus 로고    scopus 로고
    • APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis
    • Giardiello FM, Petersen GM, Piantadosi S et al (1997) APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis. Gut 40:521-525
    • (1997) Gut , vol.40 , pp. 521-525
    • Giardiello, F.M.1    Petersen, G.M.2    Piantadosi, S.3
  • 4
    • 0036714621 scopus 로고    scopus 로고
    • Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD)
    • Michils G, Tejpar S, Fryns JP et al (2002) Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD). Eur J Hum Genet 10:505-510
    • (2002) Eur J Hum Genet , vol.10 , pp. 505-510
    • Michils, G.1    Tejpar, S.2    Fryns, J.P.3
  • 5
    • 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 (1991) 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 28:289-296
    • (1991) J Med Genet , vol.28 , pp. 289-296
    • Burn, J.1    Chapman, P.2    Delhanty, J.3
  • 6
    • 0026622897 scopus 로고
    • Congenital hypertrophy of retinal pigment epithelium in patients with colonic polyps associated with cancer family syndrome
    • Houlston RS, Fallon T, Harocopos C et al (1992) Congenital hypertrophy of retinal pigment epithelium in patients with colonic polyps associated with cancer family syndrome. Clin Genet 42:16-18
    • (1992) Clin Genet , vol.42 , pp. 16-18
    • Houlston, R.S.1    Fallon, T.2    Harocopos, C.3
  • 7
    • 0032787952 scopus 로고    scopus 로고
    • The relationship between congenital hypertrophy of the retinal pigment epithelium (CHRPE) and germline mutations in the adenomatous polyposis coli (APC) gene
    • Ziskind A, Kitze MJ, Grobbelaar JJ (1999) The relationship between congenital hypertrophy of the retinal pigment epithelium (CHRPE) and germline mutations in the adenomatous polyposis coli (APC) gene. Ophthalmic Genet 20:53-56
    • (1999) Ophthalmic Genet , vol.20 , pp. 53-56
    • Ziskind, A.1    Kitze, M.J.2    Grobbelaar, J.J.3
  • 8
    • 0025076282 scopus 로고
    • Importance of retinal pigmentation as a subclinical marker in familial adenomatous polyposis
    • Baba S, Tsuchiya M, Watanabe I et al (1990) Importance of retinal pigmentation as a subclinical marker in familial adenomatous polyposis. Dis Colon Rectum 33:660-665
    • (1990) Dis Colon Rectum , vol.33 , pp. 660-665
    • Baba, S.1    Tsuchiya, M.2    Watanabe, I.3
  • 9
    • 0028233772 scopus 로고
    • Congenital hypertrophy of the retinal pigment epithelium and mandibular osteomata as markers in familial colorectal cancer
    • Hunt LM, Robinson MHE, Hugkulstone CE et al (1994) Congenital hypertrophy of the retinal pigment epithelium and mandibular osteomata as markers in familial colorectal cancer. Br J Cancer 70:173-176
    • (1994) Br J Cancer , vol.70 , pp. 173-176
    • Hunt, L.M.1    Robinson, M.H.E.2    Hugkulstone, C.E.3
  • 10
    • 0032988403 scopus 로고    scopus 로고
    • Fundus lesions of adenomatous polyposis
    • Tiret A, Parc C (1999) Fundus lesions of adenomatous polyposis. Curr Opin Ophthalmol 10:168-172
    • (1999) Curr Opin Ophthalmol , vol.10 , pp. 168-172
    • Tiret, A.1    Parc, C.2
  • 11
    • 0026705159 scopus 로고
    • Role of congenital hypertrophy of the retinal pigment epithelium in the predictive diagnosis of familial adenomatous polyposis
    • Morton DG, Gibson J, Macdonald F et al (1992) Role of congenital hypertrophy of the retinal pigment epithelium in the predictive diagnosis of familial adenomatous polyposis. Br J Surg 79:689-693
    • (1992) Br J Surg , vol.79 , pp. 689-693
    • Morton, D.G.1    Gibson, J.2    Macdonald, F.3
  • 12
    • 0028091260 scopus 로고
    • Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis
    • Hodgson SV, Bishop DT, Jay B (1994) Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis. J Med Genet 31:55-58
    • (1994) J Med Genet , vol.31 , pp. 55-58
    • Hodgson, S.V.1    Bishop, D.T.2    Jay, B.3
  • 13
    • 0029990987 scopus 로고    scopus 로고
    • Frequency of congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis
    • Olea JL, Mateos JM, Llompart A et al (1996) Frequency of congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Acta Ophthalmol Scand 74:48-50
    • (1996) Acta Ophthalmol Scand , vol.74 , pp. 48-50
    • Olea, J.L.1    Mateos, J.M.2    Llompart, A.3
  • 14
    • 0023888797 scopus 로고
    • Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis
    • Berk T, Cohen Z, McLeod RS et al (1988) Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis. Dis Colon Rectum 31:253-257
    • (1988) Dis Colon Rectum , vol.31 , pp. 253-257
    • Berk, T.1    Cohen, Z.2    McLeod, R.S.3
  • 15
    • 0025079508 scopus 로고
    • Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis
    • Polkinghorne PJ, Ritchie S, Neale K et al (1990) Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis. Eye 4:216-221
    • (1990) Eye , vol.4 , pp. 216-221
    • Polkinghorne, P.J.1    Ritchie, S.2    Neale, K.3
  • 16
    • 3042694905 scopus 로고    scopus 로고
    • Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis
    • Tourino R, Conde-Freire R, Cabezas-Agricola JM et al (2004) Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis. Int Ophthalmol 25:101-112
    • (2004) Int Ophthalmol , vol.25 , pp. 101-112
    • Tourino, R.1    Conde-Freire, R.2    Cabezas-Agricola, J.M.3
  • 17
    • 0030449558 scopus 로고    scopus 로고
    • Pigmented ocular fundus lesions and APC mutations in familial adenomatous polyposis
    • Traboulsi EI, Apostolides J, Giardiello FM et al (1996) Pigmented ocular fundus lesions and APC mutations in familial adenomatous polyposis. Ophthalmic Genet 17:167-174
    • (1996) Ophthalmic Genet , vol.17 , pp. 167-174
    • Traboulsi, E.I.1    Apostolides, J.2    Giardiello, F.M.3
  • 18
    • 0141635232 scopus 로고    scopus 로고
    • Solitary congenital hypertrophy of the retinal pigment epithelium: Clinical features and frequency of enlargement in 330 patients
    • Shields CL, Mashayekhi A, Ho T et al (2003) Solitary congenital hypertrophy of the retinal pigment epithelium: clinical features and frequency of enlargement in 330 patients. Ophthalmology 110:1968-1976
    • (2003) Ophthalmology , vol.110 , pp. 1968-1976
    • Shields, C.L.1    Mashayekhi, A.2    Ho, T.3
  • 19
    • 10544227299 scopus 로고    scopus 로고
    • Extracolonic features of familial adenomatous polyposis in patients with sporadic colorectal cancer
    • Dunlop MG, Farrington SM, Bubb VJ et al (1996) Extracolonic features of familial adenomatous polyposis in patients with sporadic colorectal cancer. Br J Cancer 74:1789-1795
    • (1996) Br J Cancer , vol.74 , pp. 1789-1795
    • Dunlop, M.G.1    Farrington, S.M.2    Bubb, V.J.3
  • 20
    • 0028997299 scopus 로고
    • Ophthalmoscopy for congenital hypertrophy of the retinal pigment epithelium (CHRPE) in patients with sporadic colorectal carcinoma
    • Hartvigsen A, Myrhoj T, Bulow S et al (1995) Ophthalmoscopy for congenital hypertrophy of the retinal pigment epithelium (CHRPE) in patients with sporadic colorectal carcinoma. Int J Colorectal Dis 10:138-139
    • (1995) Int J Colorectal Dis , vol.10 , pp. 138-139
    • Hartvigsen, A.1    Myrhoj, T.2    Bulow, S.3
  • 21
    • 0029620672 scopus 로고
    • Molecular genetic analysis of exons 1 to 6 of the APC gene in nonpolyposis familial colorectal cancer
    • Joyce JA, Froggatt NJ, Davies R et al (1995) Molecular genetic analysis of exons 1 to 6 of the APC gene in nonpolyposis familial colorectal cancer. Clin Genet 48:299-303
    • (1995) Clin Genet , vol.48 , pp. 299-303
    • Joyce, J.A.1    Froggatt, N.J.2    Davies, R.3
  • 22
    • 0035171958 scopus 로고    scopus 로고
    • A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair
    • Boardman LA, Schmidt S, Lindor NM et al (2001) A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair. Genes Chrom Cancer 30:181-186
    • (2001) Genes Chrom Cancer , vol.30 , pp. 181-186
    • Boardman, L.A.1    Schmidt, S.2    Lindor, N.M.3
  • 23
    • 12244278227 scopus 로고    scopus 로고
    • Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumours
    • Ruszkiewicz A, Bennett G, Moore J et al (2002) Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumours. Pathology 34:541-547
    • (2002) Pathology , vol.34 , pp. 541-547
    • Ruszkiewicz, A.1    Bennett, G.2    Moore, J.3
  • 25
    • 27744556975 scopus 로고    scopus 로고
    • What's new in hereditary colorectal cancer?
    • Jass JR (2005) What's new in hereditary colorectal cancer? Arch Pathol Lab Med 129:1380-1384
    • (2005) Arch Pathol Lab Med , vol.129 , pp. 1380-1384
    • Jass, J.R.1
  • 26
    • 0025938038 scopus 로고
    • Identification and characterization of the familial adenomatous polyposis coli gene
    • Groden J, Thliveris A, Samowitz W et al (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66:589-600
    • (1991) Cell , vol.66 , pp. 589-600
    • Groden, J.1    Thliveris, A.2    Samowitz, W.3
  • 27
    • 11944252481 scopus 로고
    • Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients
    • Miyoshi Y, Ando H, Nagase H et al (1992) Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci 89:4452-4456
    • (1992) Proc Natl Acad Sci , vol.89 , pp. 4452-4456
    • Miyoshi, Y.1    Ando, H.2    Nagase, H.3
  • 28
    • 0035726850 scopus 로고    scopus 로고
    • Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography
    • Wu G, Wu W, Hegde M et al (2001) Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography. Genet Test 5:281-290
    • (2001) Genet Test , vol.5 , pp. 281-290
    • Wu, G.1    Wu, W.2    Hegde, M.3
  • 29
    • 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 (1997) 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 9:7-16
    • (1997) Hum Mutat , vol.9 , pp. 7-16
    • Luijt, R.B.1    Khan, P.M.2    Vasen, H.F.3
  • 30
    • 15844428726 scopus 로고    scopus 로고
    • The I1307K APC mutation in a high-risk clinic setting: A follow-up study
    • Regev M, Barzilai SE, Figer A et al (2005) The I1307K APC mutation in a high-risk clinic setting: a follow-up study. Clin Genet 67:352-355
    • (2005) Clin Genet , vol.67 , pp. 352-355
    • Regev, M.1    Barzilai, S.E.2    Figer, A.3
  • 31
    • 0027330412 scopus 로고
    • Predictive diagnosis in familial adenomatous polyposis: Evaluation of molecular genetic and ophthalmologic methods
    • Caspari R, Friedl W, Boker T et al (1993) Predictive diagnosis in familial adenomatous polyposis: evaluation of molecular genetic and ophthalmologic methods. Z Gastroenterol 31:646-652
    • (1993) Z Gastroenterol , vol.31 , pp. 646-652
    • Caspari, R.1    Friedl, W.2    Boker, T.3
  • 32
    • 0028905406 scopus 로고
    • Familial adenomatous polyposis: Demsoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444
    • Caspari R, Olschwang S, Friedl W et al (1995) Familial adenomatous polyposis: demsoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 4:337-340
    • (1995) Hum Mol Genet , vol.4 , pp. 337-340
    • Caspari, R.1    Olschwang, S.2    Friedl, W.3
  • 33
    • 0027769633 scopus 로고
    • Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients
    • Olschwang S, Tiret A, Laurent-Puig P et al (1993) Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 75:959-968
    • (1993) Cell , vol.75 , pp. 959-968
    • Olschwang, S.1    Tiret, A.2    Laurent-Puig, P.3
  • 34
    • 0028823186 scopus 로고
    • Attenuated familial adenomatous polyposis (AFAP): Aphenotypically and genotypically distinctive variant of FAP
    • Lynch HT, Smyrk T, McGinn T et al (1995) Attenuated familial adenomatous polyposis (AFAP): aphenotypically and genotypically distinctive variant of FAP. Cancer 76:2427-2433
    • (1995) Cancer , vol.76 , pp. 2427-2433
    • Lynch, H.T.1    Smyrk, T.2    McGinn, T.3
  • 35
    • 9544228433 scopus 로고    scopus 로고
    • Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene
    • Marchese CA, Bertolino F, Ceccopieri B et al (1996) Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene. Scand J Gastroenterol 31:917-920
    • (1996) Scand J Gastroenterol , vol.31 , pp. 917-920
    • Marchese, C.A.1    Bertolino, F.2    Ceccopieri, B.3
  • 36
    • 0023141362 scopus 로고
    • Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome
    • Traboulsi E, Krush AJ, Gardner EJ et al (1987) Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. N Engl J Med 316:661-667
    • (1987) N Engl J Med , vol.316 , pp. 661-667
    • Traboulsi, E.1    Krush, A.J.2    Gardner, E.J.3
  • 38
    • 10544228516 scopus 로고    scopus 로고
    • Congential hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Novel criteria of assessment and correlation with constitutional adenomatous polyposis coli gene mutation
    • Valanzano R, Cama A, Volpe R et al (1996) Congential hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Novel criteria of assessment and correlation with constitutional adenomatous polyposis coli gene mutation. Cancer 78:2400-2410
    • (1996) Cancer , vol.78 , pp. 2400-2410
    • Valanzano, R.1    Cama, A.2    Volpe, R.3
  • 39
    • 0026474813 scopus 로고
    • Lack of association among typical congenital hypertrophy of the retinal pigment epithelium, adenomatous polyposis, and Gardner syndrome
    • Shields JA, Shields CL, Shah PG et al (1992) Lack of association among typical congenital hypertrophy of the retinal pigment epithelium, adenomatous polyposis, and Gardner syndrome. Ophthalmology 99:1709-1713
    • (1992) Ophthalmology , vol.99 , pp. 1709-1713
    • Shields, J.A.1    Shields, C.L.2    Shah, P.G.3
  • 40
    • 21344434285 scopus 로고    scopus 로고
    • Congenital hypertrophy of retinal pigment epithelium: A clinico-pathological case report
    • Parson MA, Rennie IG, Rundle PA (2005) Congenital hypertrophy of retinal pigment epithelium: a clinico-pathological case report. Br J Ophthalmol 89:920-921
    • (2005) Br J Ophthalmol , vol.89 , pp. 920-921
    • Parson, M.A.1    Rennie, I.G.2    Rundle, P.A.3
  • 41
    • 0026591237 scopus 로고
    • A histopathologic study of the pigmented fundus lesions in familial adenomatous polyposis
    • Kasner L, Traboulsi EI, Delacruz Z et al (1992) A histopathologic study of the pigmented fundus lesions in familial adenomatous polyposis. Retina 12:35-42
    • (1992) Retina , vol.12 , pp. 35-42
    • Kasner, L.1    Traboulsi, E.I.2    Delacruz, Z.3
  • 42
    • 85084623327 scopus 로고
    • The distinction between multiple retinal pigment epithelial hamartomata (MRPEH) in familial adenomatous polyposis (FAP) and congenital hypertrophy of the retinal pigment epithelium (CHRPE)
    • Hennesey MP (1994) The distinction between multiple retinal pigment epithelial hamartomata (MRPEH) in familial adenomatous polyposis (FAP) and congenital hypertrophy of the retinal pigment epithelium (CHRPE). ANZ J Ophthalmol 23:275-276
    • (1994) ANZ J Ophthalmol , vol.23 , pp. 275-276
    • Hennesey, M.P.1
  • 43
    • 0025048916 scopus 로고
    • A clinicopathologic study of the eyes with extracolonic manifestations (Gardner's syndrome)
    • Traboulsi EI, Murphy SF, Delacruz ZC et al (1990) A clinicopathologic study of the eyes with extracolonic manifestations (Gardner's syndrome). Am J Ophthalmol 110:550-561
    • (1990) Am J Ophthalmol , vol.110 , pp. 550-561
    • Traboulsi, E.I.1    Murphy, S.F.2    Delacruz, Z.C.3


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