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Volumn 4, Issue 2, 2005, Pages 127-133

A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history

Author keywords

APC; Colon cancer; Familial adenomatous polyposis; Hereditary MYH; Polyps

Indexed keywords

ADENOMATOUS POLYP; ADULT; ARTICLE; COLORECTAL CARCINOMA; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILY HISTORY; FEMALE; GENOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

EID: 21244453240     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-004-5814-0     Document Type: Article
Times cited : (22)

References (27)
  • 2
    • 0031781181 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in attenuated adenomatous polyposis coli
    • C Soravia T Berk L Madlensky 1998 Genotype-phenotype correlations in attenuated adenomatous polyposis coli Am J Hum Genet 62 1290 301
    • (1998) Am J Hum Genet , vol.62 , pp. 1290-301
    • Soravia, C.1    Berk, T.2    Madlensky, L.3
  • 4
    • 0036033274 scopus 로고    scopus 로고
    • Genetics of colorectal cancer: Hereditary aspects and overview of colorectal tumorigenesis
    • SN Fearnhead LJ Wilding FW. Bodmer 2002 Genetics of colorectal cancer: hereditary aspects and overview of colorectal tumorigenesis Br Med Bull 64 27 43
    • (2002) Br Med Bull , vol.64 , pp. 27-43
    • Fearnhead, S.N.1    Wilding, L.J.2    Bodmer, F.W.3
  • 5
    • 0028350369 scopus 로고
    • Familial adenomatous polyposis (FAP): Frequency, penetrance and mutation rate
    • ML Bisgaard K Fenger S Bullow 1994 Familial adenomatous polyposis (FAP): frequency, penetrance and mutation rate Hum Mutat 3 121 5
    • (1994) Hum Mutat , vol.3 , pp. 121-5
    • Bisgaard, M.L.1    Fenger, K.2    Bullow, S.3
  • 6
    • 0037962881 scopus 로고    scopus 로고
    • Result of national registration of familial adenomatous polyposis
    • S. Bulow 2003 Result of national registration of familial adenomatous polyposis Gut 52 742 6
    • (2003) Gut , vol.52 , pp. 742-6
    • Bulow, S.1
  • 7
    • 0037797281 scopus 로고    scopus 로고
    • Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis
    • L Bertario A Russo P Sala 2003 Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis J Clin Oncol 21 1698 707
    • (2003) J Clin Oncol , vol.21 , pp. 1698-707
    • Bertario, L.1    Russo, A.2    Sala, P.3
  • 8
    • 0029928160 scopus 로고    scopus 로고
    • APC gene: Database of germline and somatic mutations in human tumors and cell lines
    • C Beroud T. Soussi 1996 APC gene: database of germline and somatic mutations in human tumors and cell lines Nucleic Acid Res 24 121 4
    • (1996) Nucleic Acid Res , vol.24 , pp. 121-4
    • Beroud, C.1    Soussi, T.2
  • 9
    • 0034106505 scopus 로고    scopus 로고
    • Familial adenomatous polyposis
    • G Lal S. Gallinger 2000 Familial adenomatous polyposis Sem Surg Oncol 18 314 23
    • (2000) Sem Surg Oncol , vol.18 , pp. 314-23
    • Lal, G.1    Gallinger, S.2
  • 10
    • 0037406555 scopus 로고    scopus 로고
    • Genetic testing for polyposis: Practical and ethical aspects
    • JH. Jarvinen 2003 Genetic testing for polyposis: practical and ethical aspects Gut 52 19 22
    • (2003) Gut , vol.52 , pp. 19-22
    • Jarvinen, J.H.1
  • 11
    • 0031774972 scopus 로고    scopus 로고
    • Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status
    • KMB Heininiman W Weber M Attenhofer 1998 Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status Gut 43 675 79
    • (1998) Gut , vol.43 , pp. 675-79
    • Heininiman, K.M.B.1    Weber, W.2    Attenhofer, M.3
  • 12
    • 0037468517 scopus 로고    scopus 로고
    • Multiple colorectal adenomas, classic adenomatous polyposis and germ-line mutations in MYH
    • MO Sieber L Lipton M Crabtree 2003 Multiple colorectal adenomas, classic adenomatous polyposis and germ-line mutations in MYH N Engl J Med 343 791 9
    • (2003) N Engl J Med , vol.343 , pp. 791-9
    • Sieber, M.O.1    Lipton, L.2    Crabtree, M.3
  • 13
    • 0028289053 scopus 로고
    • Rapid detection of translation-terminating mutations at the adenomatous poliposis coli (APC) gene by direct protein truncation test
    • R Vande Luijt PM Knan H Vasen 1994 Rapid detection of translation-terminating mutations at the adenomatous poliposis coli (APC) gene by direct protein truncation test Genomics 20 1 4
    • (1994) Genomics , vol.20 , pp. 1-4
    • Vande Luijt, R.1    Knan, P.M.2    Vasen, H.3
  • 14
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutation and DNA polymorphism using the polimerase chain reaction
    • M Orita Y Suzuky T Sekiya 1989 Rapid and sensitive detection of point mutation and DNA polymorphism using the polimerase chain reaction Genomics 5 874 9
    • (1989) Genomics , vol.5 , pp. 874-9
    • Orita, M.1    Suzuky, Y.2    Sekiya, T.3
  • 15
    • 0033452370 scopus 로고    scopus 로고
    • Clinical features and genotype-phenotype correlations in 41 Italian families with adenomatosis coli
    • M Ponzde Leon P Benatti A Percesepe 1999 Clinical features and genotype-phenotype correlations in 41 Italian families with adenomatosis coli Ital J Gastroenterol Hepatol 31 850 60
    • (1999) Ital J Gastroenterol Hepatol , vol.31 , pp. 850-60
    • Ponzde Leon, M.1    Benatti, P.2    Percesepe, A.3
  • 16
    • 0035887464 scopus 로고    scopus 로고
    • Nontruncating APC germl-line mutations and mismach repair deficiency play a minor role in APC mutation-negative polyposis
    • K Heininiman A Thompson A Locher 2001 Nontruncating APC germl-line mutations and mismach repair deficiency play a minor role in APC mutation-negative polyposis Cancer Res 61 7616 22
    • (2001) Cancer Res , vol.61 , pp. 7616-22
    • Heininiman, K.1    Thompson, A.2    Locher, A.3
  • 17
    • 0036103113 scopus 로고    scopus 로고
    • Genetic and clinical characterisation of familial adenomatous polyposis: A population based study
    • A-L Moisio H Jarvinen P. Peltomaki 2002 Genetic and clinical characterisation of familial adenomatous polyposis: a population based study Gut 50 845 50
    • (2002) Gut , vol.50 , pp. 845-50
    • Moisio, A.-L.1    Jarvinen, H.2    Peltomaki, P.3
  • 19
    • 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 mutations
    • M Giarola L Stagi S Presciuttini 1999 Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutations Hum Mutat 13 116 23
    • (1999) Hum Mutat , vol.13 , pp. 116-23
    • Giarola, M.1    Stagi, L.2    Presciuttini, S.3
  • 20
    • 0035076731 scopus 로고    scopus 로고
    • Can APC mutation analysis contribute to the therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families
    • W Friedl R Caspari M Sengteller 2001 Can APC mutation analysis contribute to the therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families Gut 48 515 21
    • (2001) Gut , vol.48 , pp. 515-21
    • Friedl, W.1    Caspari, R.2    Sengteller, M.3
  • 21
    • 19044395448 scopus 로고    scopus 로고
    • Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations
    • N Gavert Y Yaron T Naiman 2002 Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations Hum Mutat 19 664 70
    • (2002) Hum Mutat , vol.19 , pp. 664-70
    • Gavert, N.1    Yaron, Y.2    Naiman, T.3
  • 22
    • 0034955851 scopus 로고    scopus 로고
    • AGA technical review on hereditary colorectal cancer and genetic testing
    • F Giardello JD Brensinger G. Peterson 2001 AGA technical review on hereditary colorectal cancer and genetic testing Gastroenterology 121 198 213
    • (2001) Gastroenterology , vol.121 , pp. 198-213
    • Giardello, F.1    Brensinger, J.D.2    Peterson, G.3
  • 23
    • 0033515008 scopus 로고    scopus 로고
    • Analysis of masked mutations in familial adenomatous polyposis
    • SJ Laken N Papadopoulos 1999 Analysis of masked mutations in familial adenomatous polyposis Proc Natl Acad Sci USA 96 2322 6
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 2322-6
    • Laken, S.J.1    Papadopoulos, N.2
  • 24
    • 0034703393 scopus 로고    scopus 로고
    • Germline APC variants in patients with multiple adenomas, with evidence for the particular importance of E1317Q
    • AD LamlunH Tassan E Jaeger 2000 Germline APC variants in patients with multiple adenomas, with evidence for the particular importance of E1317Q Hum Mol Genet 9 2215 21
    • (2000) Hum Mol Genet , vol.9 , pp. 2215-21
    • Lamlunh Tassan, A.D.1    Jaeger, E.2
  • 25
    • 0038501052 scopus 로고    scopus 로고
    • Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
    • RJ Sampson S DolwaniS Jones 2003 Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH Lancet 362 39 41
    • (2003) Lancet , vol.362 , pp. 39-41
    • Sampson, R.J.1    Dolwanis Jones, S.2
  • 26
    • 3242689475 scopus 로고    scopus 로고
    • MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps
    • L Wang ML Baudhuin AL. Boardman 2004 MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps Gastroenterology 127 9 16
    • (2004) Gastroenterology , vol.127 , pp. 9-16
    • Wang, L.1    Baudhuin, M.L.2    Boardman, A.L.3
  • 27
    • 2942538325 scopus 로고    scopus 로고
    • High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis
    • T Venesio S Molatore F Cattaneo 2004 High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis Gastroenterology 126 1681 5
    • (2004) Gastroenterology , vol.126 , pp. 1681-5
    • Venesio, T.1    Molatore, S.2    Cattaneo, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.