메뉴 건너뛰기




Volumn 910, Issue , 2000, Pages 36-49

Genetic testing for familial adenomatous polyposis

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA FRAGMENT; GENE PRODUCT; MESSENGER RNA;

EID: 0033913829     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2000.tb06699.x     Document Type: Conference Paper
Times cited : (23)

References (57)
  • 1
    • 0001126259 scopus 로고
    • A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum
    • 1. GARDNER, E.J. 1951. A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am. J. Hum. Genet. 3: 167-176.
    • (1951) Am. J. Hum. Genet. , vol.3 , pp. 167-176
    • Gardner, E.J.1
  • 10
    • 0025312728 scopus 로고
    • A genetic model for colorectal tumorigenesis
    • 10. FEARON, E.R. & B. VOGELSTEIN. 1990. A genetic model for colorectal tumorigenesis. Cell 61: 759-767.
    • (1990) Cell , vol.61 , pp. 759-767
    • Fearon, E.R.1    Vogelstein, B.2
  • 11
    • 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
    • 11. BURN, J., P. CHAPMAN, J. DELHANTY, C. WOOD, F. LALLOO, M.B. CACHON-GONZALEZ, K. TSIOUPRA, W. CHURCH, M. RHODES & A. GUNN. 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    Wood, C.4    Lalloo, F.5    Cachon-Gonzalez, M.B.6    Tsioupra, K.7    Church, W.8    Rhodes, M.9    Gunn, A.10
  • 12
    • 0028350369 scopus 로고
    • Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate
    • 12. BISGAARD, M.L., K. FENGER, S. BULOW, E. NIEBUHR & J. MOHR. 1994. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum. Mutat. 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
  • 13
    • 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
    • 13. GAYTHER, S.A., D. WELLS, S.B. SENGUPTA, P. CHAPMAN, K. NEALE, K. TSIOUPRA & J.D.A. DELHANTY. 1994. 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. 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.A.7
  • 14
    • 0027369836 scopus 로고
    • Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP)
    • 14. BAPAT, B., R. ODZE, A. MITRI, T. BERK, M. WARD & S. GALLINGER. 1993. Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP). Hum. Molec. Genet. 2: 1957-1959.
    • (1993) Hum. Molec. Genet. , vol.2 , pp. 1957-1959
    • Bapat, B.1    Odze, R.2    Mitri, A.3    Berk, T.4    Ward, M.5    Gallinger, S.6
  • 16
    • 0031042631 scopus 로고    scopus 로고
    • Childhood hepatocellular adenoma in familial adenomatous polyposis: Mutations in adenomatous polyposis coli gene and p53
    • 16. BALA, S., P.H. WUNSCH & W.G. BALLHAUSEN. 1997. Childhood hepatocellular adenoma in familial adenomatous polyposis: mutations in adenomatous polyposis coli gene and p53. Gastroenterology 112: 919-922.
    • (1997) Gastroenterology , vol.112 , pp. 919-922
    • Bala, S.1    Wunsch, P.H.2    Ballhausen, W.G.3
  • 17
    • 0027769633 scopus 로고
    • Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients
    • 17. OLSCHWANG, S., A. TIRET, P. LAURENT-PUIG, M. MULERIS, R. PARC & G. THOMAS. 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    Muleris, M.4    Parc, R.5    Thomas, G.6
  • 19
    • 0030202884 scopus 로고    scopus 로고
    • Exceptions to the rule: Individuals with FAP specific CHRPE and mutations in exon 6 of the APC gene
    • 19. PACK, K., I. SMITH-RAVIN, R.K. PHILLIPS & S.V. HODGSON. 1996. Exceptions to the rule: individuals with FAP specific CHRPE and mutations in exon 6 of the APC gene. Clin. Genet. 50: 110-111.
    • (1996) Clin. Genet. , vol.50 , pp. 110-111
    • Pack, K.1    Smith-Ravin, I.2    Phillips, R.K.3    Hodgson, S.V.4
  • 20
    • 0344765492 scopus 로고    scopus 로고
    • Rapid RT-PCR-based protein truncation test in the screening for 5′ located mutations of the APC gene
    • 20. Kraus, C., K. Gunther, A. Vogler, W. Hohenberger, R.A. Pfeiffer & W.G. Ballhausen. 1998. Rapid RT-PCR-based protein truncation test in the screening for 5′ located mutations of the APC gene. Molec. Cell. Probes 12: 143-147.
    • (1998) Molec. Cell. Probes , vol.12 , pp. 143-147
    • Kraus, C.1    Gunther, K.2    Vogler, A.3    Hohenberger, W.4    Pfeiffer, R.A.5    Ballhausen, W.G.6
  • 22
    • 0030880792 scopus 로고    scopus 로고
    • Severe upper gastrointestinal polyposis associated with sparse colonic polyposis in a familial adenomatous polyposis family with an APC mutation at codon 1520
    • 22. LEGGETT, B.A., J.P. YOUNG, K. BIDEN, R.L. BUTTENSHAW, N. KNIGHT & A.E. COWEN. 1997. Severe upper gastrointestinal polyposis associated with sparse colonic polyposis in a familial adenomatous polyposis family with an APC mutation at codon 1520. Gut 41: 518-521.
    • (1997) Gut , vol.41 , pp. 518-521
    • Leggett, B.A.1    Young, J.P.2    Biden, K.3    Buttenshaw, R.L.4    Knight, N.5    Cowen, A.E.6
  • 23
    • 0029897836 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis due to a mutation in the 3-prime part of the APC gene: A clue for understanding the function of the APC protein
    • 23. FRIEDL, W., S. MEUSCHEL, R. CASPARI, C. LAMBERTI, S. KRIEGER, M. SENGTELLER & P. PROPPING. 1996. Attenuated familial adenomatous polyposis due to a mutation in the 3-prime part of the APC gene: a clue for understanding the function of the APC protein. Hum. Genet. 97: 579-584.
    • (1996) Hum. Genet. , vol.97 , pp. 579-584
    • Friedl, W.1    Meuschel, S.2    Caspari, R.3    Lamberti, C.4    Krieger, S.5    Sengteller, M.6    Propping, P.7
  • 24
    • 6844252957 scopus 로고    scopus 로고
    • Germline mutations in the 3-prime part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli
    • 24. VAN DER LUIJT, R.B., P. MEERA KHAN, H.F.A. VASEN, C. BREUKEL, C.M.J. TOPS, R.J. SCOTT & R. FODDE. 1996. Germline mutations in the 3-prime part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum. Genet. 98: 727-734.
    • (1996) Hum. Genet. , vol.98 , pp. 727-734
    • Van Der Luijt, R.B.1    Khan, P.M.2    Vasen, H.F.A.3    Breukel, C.4    Tops, C.M.J.5    Scott, R.J.6    Fodde, R.7
  • 28
    • 0030592517 scopus 로고    scopus 로고
    • Lessons from hereditary colorectal cancer
    • 28. KINZLER, K.W. & B. VOGELSTEIN. 1996. Lessons from hereditary colorectal cancer. Cell 87: 159-170.
    • (1996) Cell , vol.87 , pp. 159-170
    • Kinzler, K.W.1    Vogelstein, B.2
  • 29
    • 0028864589 scopus 로고
    • Multiple APC messenger RNA isoforms encoding exon 15 short open reading frames are expressed in the context of a novel exon 10A-derived sequence
    • 29. SULEKOVA, Z., J. REINA-SANCHEZ & W.G. BALLHAUSEN. 1995. Multiple APC messenger RNA isoforms encoding exon 15 short open reading frames are expressed in the context of a novel exon 10A-derived sequence. Int. J. Cancer 63: 435-441.
    • (1995) Int. J. Cancer , vol.63 , pp. 435-441
    • Sulekova, Z.1    Reina-Sanchez, J.2    Ballhausen, W.G.3
  • 30
    • 0029094394 scopus 로고
    • Evidence for a novel exon in the coding region of the adenomatous polyposis coli (APC) gene
    • 30. XIA, L., K.A. ST. DENIS & B. BAPAT. 1995. Evidence for a novel exon in the coding region of the adenomatous polyposis coli (APC) gene. Genomics 28: 589-591.
    • (1995) Genomics , vol.28 , pp. 589-591
    • Xia, L.1    St. Denis, K.A.2    Bapat, B.3
  • 31
    • 0030766495 scopus 로고    scopus 로고
    • Novel exon connections of the BS (brain-specific) exon of the adenomatous polyposis coli gene
    • 31. BARDOS, J., Z. SULEKOVA & W.G. BALLHAUSEN. 1997. Novel exon connections of the BS (brain-specific) exon of the adenomatous polyposis coli gene. Int. J. Cancer 73: 137-142.
    • (1997) Int. J. Cancer , vol.73 , pp. 137-142
    • Bardos, J.1    Sulekova, Z.2    Ballhausen, W.G.3
  • 33
    • 0028289053 scopus 로고
    • Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test
    • 33. VAN DER LUIJT, R.B., P. MEERA KHAN, H. VASEN, C. VAN LEEUWEN, C. TOPS, P. ROEST, J. DEN DUNNEN & R. FODDE. 1994. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 20: 1-4.
    • (1994) Genomics , vol.20 , pp. 1-4
    • Van Der Luijt, R.B.1    Meera Khan, P.2    Vasen, H.3    Van Leeuwen, C.4    Tops, C.5    Roest, P.6    Den Dunnen, J.7    Fodde, R.8
  • 34
    • 0029852438 scopus 로고    scopus 로고
    • Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene
    • 34. BALA, S., C. KRAUS, J. WIJNEN, P. MEERA KHAN & W.G. BALLHAUSEN. 1996. Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene. Hum. Genet. 98: 528-533.
    • (1996) Hum. Genet. , vol.98 , pp. 528-533
    • Bala, S.1    Kraus, C.2    Wijnen, J.3    Meera Khan, P.4    Ballhausen, W.G.5
  • 35
    • 0032923115 scopus 로고    scopus 로고
    • Exon 14-skipping of the adenomatous polyposis coli gene in purified epithelial cells of colonic mucosa and tumors
    • 35. SULEKOVA, Z., M. REYMOND, F. KOCKERLING, W. HOHENBERGER & W.G. BALLHAUSEN. 1999. Exon 14-skipping of the adenomatous polyposis coli gene in purified epithelial cells of colonic mucosa and tumors. Anticancer Res. 19: 601-604.
    • (1999) Anticancer Res. , vol.19 , pp. 601-604
    • Sulekova, Z.1    Reymond, M.2    Kockerling, F.3    Hohenberger, W.4    Ballhausen, W.G.5
  • 36
    • 0030769122 scopus 로고    scopus 로고
    • Constitutive APC exon 14-skipping in early onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene specific isoforms
    • 36. BALA, S., Z. SULEKOVA & W.G. BALLHAUSEN. 1997. Constitutive APC exon 14-skipping in early onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene specific isoforms. Hum. Mutation 10: 20120-20126.
    • (1997) Hum. Mutation , vol.10 , pp. 20120-20126
    • Bala, S.1    Sulekova, Z.2    Ballhausen, W.G.3
  • 38
    • 0029928160 scopus 로고    scopus 로고
    • APC gene: Database of germline and somatic mutations in human tumors and cell lines
    • 38. BEROUD, C. & T. SOUSSI. 1996. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res. 24: 121-124.
    • (1996) Nucleic Acids Res. , vol.24 , pp. 121-124
    • Beroud, C.1    Soussi, T.2
  • 42
    • 0017360680 scopus 로고
    • Periampullary malignancy in Gardner's syndrome
    • 42. JONES, T.R. & F. C. NANCE. 1977. Periampullary malignancy in Gardner's syndrome. Ann. Surg. 185: 565-573.
    • (1977) Ann. Surg. , vol.185 , pp. 565-573
    • Jones, T.R.1    Nance, F.C.2
  • 44
    • 0023867030 scopus 로고
    • Natural history of gastric adenomas in patients with familial adenomatosis coli/Gardner's syndrome
    • 44. IIDA, M., T. YAO, H. ITOH, H. WATANABE, T. MATSUI, A. IWASHITA & M. FUJISHIMA. 1988. Natural history of gastric adenomas in patients with familial adenomatosis coli/Gardner's syndrome. Cancer 61: 605-611.
    • (1988) Cancer , vol.61 , pp. 605-611
    • Iida, M.1    Yao, T.2    Itoh, H.3    Watanabe, H.4    Matsui, T.5    Iwashita, A.6    Fujishima, M.7
  • 46
    • 0000831509 scopus 로고
    • Hereditary pattern for multiple osteomas in a family group
    • 46. GARDNER, E.J. & H.P. PLENK. 1952. Hereditary pattern for multiple osteomas in a family group. Am. J. Hum. Genet. 4: 31-36.
    • (1952) Am. J. Hum. Genet. , vol.4 , pp. 31-36
    • Gardner, E.J.1    Plenk, H.P.2
  • 47
    • 0016429461 scopus 로고
    • The occult osteomatous changes in the mandible in patients with familial polyposis coli
    • 47. UTSUNOMIYA, J. & T. NAKAMURA. 1975. The occult osteomatous changes in the mandible in patients with familial polyposis coli. Br. J. Surg. 62: 45-51.
    • (1975) Br. J. Surg. , vol.62 , pp. 45-51
    • Utsunomiya, J.1    Nakamura, T.2
  • 48
    • 73849157307 scopus 로고
    • Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts
    • 48. GARDNER, E.J. 1962. Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am. J. Hum. Genet. 14: 376-390.
    • (1962) Am. J. Hum. Genet. , vol.14 , pp. 376-390
    • Gardner, E.J.1
  • 49
    • 0032888638 scopus 로고    scopus 로고
    • Desmoid tumours complicating familial adenomatous polyposis
    • 49. CLARK, S.K., K.F. NEALE, J.C. LANDGREBE & R.K.S. PHILLIPS. 1999. Desmoid tumours complicating familial adenomatous polyposis. Br. J. Surg. 86: 1185-1189.
    • (1999) Br. J. Surg. , vol.86 , pp. 1185-1189
    • Clark, S.K.1    Neale, K.F.2    Landgrebe, J.C.3    Phillips, R.K.S.4
  • 51
    • 0014407592 scopus 로고
    • Association of thyroid carcinoma with Gardner's syndrome in siblings
    • 51. CAMIEL, M.R., J.E. MULE., L.L. ALEXANDER & D.L. BENNINGHOFF. 1968. Association of thyroid carcinoma with Gardner's syndrome in siblings. N. Engl. J. Med. 278: 1056-1058.
    • (1968) N. Engl. J. Med. , vol.278 , pp. 1056-1058
    • Camiel, M.R.1    Mule, J.E.2    Alexander, L.L.3    Benninghoff, D.L.4
  • 53
    • 85120136183 scopus 로고    scopus 로고
    • Colonic late-onset familial adenomatous polyposis combined with severe duodenal polyposis and familial endometrial cancer
    • In press
    • 53. GUENTHER, K., T. HORBACH, C. KRAUS, W. HOHENBERGER & W.G. BALLHAUSEN. Colonic late-onset familial adenomatous polyposis combined with severe duodenal polyposis and familial endometrial cancer. Am. J. Med. In press.
    • Am. J. Med.
    • Guenther, K.1    Horbach, T.2    Kraus, C.3    Hohenberger, W.4    Ballhausen, W.G.5
  • 54
    • 0027535028 scopus 로고
    • Identification of an alternative 5-prime untranslated region of the adenomatous polyposis coli gene
    • 54. LAMBERTZ, S. & W.G. BALLHAUSEN. 1993. Identification of an alternative 5-prime untranslated region of the adenomatous polyposis coli gene. Hum. Genet. 90: 650-652.
    • (1993) Hum. Genet. , vol.90 , pp. 650-652
    • Lambertz, S.1    Ballhausen, W.G.2
  • 55
    • 0027191077 scopus 로고
    • Multiple forms of the APC gene transcripts and their tissue-specific expression
    • 55. HORII, A., S. NAKATSURU, S. ICHII, H. NAGASE & Y. NAKAMURA. 1993. Multiple forms of the APC gene transcripts and their tissue-specific expression. Hum. Mol. Genet. 2: 283-287.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 283-287
    • Horii, A.1    Nakatsuru, S.2    Ichii, S.3    Nagase, H.4    Nakamura, Y.5
  • 56
    • 0000466942 scopus 로고
    • The human APC gene: Transcription regulatory elements within the exon 1A upstream region
    • 56. EIBNER, M., K. MAYER & W.G. BALLHAUSEN. 1994. The human APC gene: transcription regulatory elements within the exon 1A upstream region [Abstr.]. Med. Genetik 6: 155.
    • (1994) Med. Genetik , vol.6 , pp. 155
    • Eibner, M.1    Mayer, K.2    Ballhausen, W.G.3
  • 57
    • 0028229809 scopus 로고
    • Demonstration of promoter activity and alternative splicing in the region 5′ to exon 1 of the APC gene
    • 57. THLIVERIS, A., W. SAMOWITZ, N. MATSUNAMI, J. GRODEN & R. WHITE. 1994. Demonstration of promoter activity and alternative splicing in the region 5′ to exon 1 of the APC gene. Cancer Res. 54: 2991-2995.
    • (1994) Cancer Res. , vol.54 , pp. 2991-2995
    • Thliveris, A.1    Samowitz, W.2    Matsunami, N.3    Groden, J.4    White, R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.