메뉴 건너뛰기




Volumn 55, Issue 10, 2006, Pages 1440-1448

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation

Author keywords

[No Author keywords available]

Indexed keywords

ADENOMATOUS POLYP; ADULT; AGED; ALLELE; ARTICLE; CARCINOGENESIS; CLINICAL ARTICLE; COLORECTAL TUMOR; CONTROLLED STUDY; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; MALE; PHENOTYPE; PRIORITY JOURNAL; SOMATIC MUTATION; WILD TYPE;

EID: 33749185580     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.2005.087106     Document Type: Article
Times cited : (87)

References (19)
  • 1
    • 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;20:385-8.
    • (1998) Nat Genet , vol.20 , pp. 385-388
    • Spirio, L.N.1    Samowitz, W.2    Robertson, J.3
  • 2
    • 0036141958 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis: An evolving and poorly understood entity
    • Hemegger GS, Moore HG, Guillem JG. Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum 2002;45:127-34.
    • (2002) Dis Colon Rectum , vol.45 , pp. 127-134
    • Hemegger, G.S.1    Moore, H.G.2    Guillem, J.G.3
  • 3
    • 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;2:43-55.
    • (2003) Fam Cancer , vol.2 , pp. 43-55
    • Knudsen, A.L.1    Bisgaard, M.L.2    Bulow, S.3
  • 4
    • 0032712853 scopus 로고    scopus 로고
    • Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9
    • Rozen P, Samuel Z, Shomrat R, et al. Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9. Gut 1999;45:829-33.
    • (1999) Gut , vol.45 , pp. 829-833
    • Rozen, P.1    Samuel, Z.2    Shomrat, R.3
  • 5
    • 19244364521 scopus 로고    scopus 로고
    • Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene
    • Eccles DM, van der Luijt R, Breukel C, et al. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet 1996;59:1193-201.
    • (1996) Am J Hum Genet , vol.59 , pp. 1193-1201
    • Eccles, D.M.1    Van Der Luijt, R.2    Breukel, C.3
  • 6
    • 0029849048 scopus 로고    scopus 로고
    • Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3′ APC gene mutation
    • Scott RJ, Froggatt NJ, Trembath RC, et al. Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3′ APC gene mutation. Hum Mol Genet 1996;5:1921-4.
    • (1996) Hum Mol Genet , vol.5 , pp. 1921-1924
    • Scott, R.J.1    Froggatt, N.J.2    Trembath, R.C.3
  • 7
    • 0031980296 scopus 로고    scopus 로고
    • A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9
    • Young J, Simms LA, Tarish J, et al. A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. Hum Mutat 1998;11:450-5.
    • (1998) Hum Mutat , vol.11 , pp. 450-455
    • Young, J.1    Simms, L.A.2    Tarish, J.3
  • 8
    • 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;62:1290-301.
    • (1998) Am J Hum Genet , vol.62 , pp. 1290-1301
    • Soravia, C.1    Berk, T.2    Madlensky, L.3
  • 9
    • 0032823133 scopus 로고    scopus 로고
    • The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: A new facet to Knudson's 'two-hit' hypothesis
    • Lamlum H, Ilyas M, Rowan A, et al. The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis. Nat Med 1999;5:1071-5.
    • (1999) Nat Med , vol.5 , pp. 1071-1075
    • Lamlum, H.1    Ilyas, M.2    Rowan, A.3
  • 10
    • 0037096906 scopus 로고    scopus 로고
    • The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade
    • Albuquerque C, Breukel C, van der Luijt R, et al. The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade. Hum Mol Genet 2002;11:1549-60.
    • (2002) Hum Mol Genet , vol.11 , pp. 1549-1560
    • Albuquerque, C.1    Breukel, C.2    Van Der Luijt, R.3
  • 11
    • 0037699438 scopus 로고    scopus 로고
    • Refining the relation between 'first hits' and 'second hits' at the APC locus: The 'loose fit' model and evidence for differences in somatic mutation spectra among patients
    • Crabtree M, Sieber OM, Lipton L, et al. Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients. Oncogene 2003;22:4257-65.
    • (2003) Oncogene , vol.22 , pp. 4257-4265
    • Crabtree, M.1    Sieber, O.M.2    Lipton, L.3
  • 12
    • 0037168610 scopus 로고    scopus 로고
    • Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC
    • Sieber OM, Heinimann K, Gorman P, et al. Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC. Proc Natl Acad Sci U S A 2002;99:16910-15.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 16910-16915
    • Sieber, O.M.1    Heinimann, K.2    Gorman, P.3
  • 13
    • 0034724186 scopus 로고    scopus 로고
    • APC mutations in sporadic colorectal tumors: A mutational "hotspot" and interdependence of the "two hits"
    • Rowan AJ, Lamlum H, Ilyas M, et al. APC mutations in sporadic colorectal tumors: A mutational "hotspot" and interdependence of the "two hits". Proc Natl Acad Sci U S A 2000;97:3352-7.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 3352-3357
    • Rowan, A.J.1    Lamlum, H.2    Ilyas, M.3
  • 14
    • 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 O, 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;67:582-90.
    • (2000) Am J Hum Genet , vol.67 , pp. 582-590
    • Su, L.K.1    Barnes, O.2    Yao, W.3
  • 16
    • 18344367618 scopus 로고    scopus 로고
    • Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas
    • Sieber OM, Lamlum H, Crabtree MD, et al. Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas. Proc Natl Acad Sci U S A 2002;99:2954-8.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 2954-2958
    • Sieber, O.M.1    Lamlum, H.2    Crabtree, M.D.3
  • 17
    • 0036719949 scopus 로고    scopus 로고
    • Explaining variation in familial adenomatous polyposis: Relationship between genotype and phenotype and evidence for modifier genes
    • Crabtree MD, Tomlinson IP, Hodgson SV, et al. Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes. Gut 2002;51:420-3.
    • (2002) Gut , vol.51 , pp. 420-423
    • Crabtree, M.D.1    Tomlinson, I.P.2    Hodgson, S.V.3
  • 18
    • 0037062434 scopus 로고    scopus 로고
    • Attenuated APC alleles produce functional protein from internal translation initiation
    • Heppner Goss K, Trzepacz C, Tuohy TM, et al. Attenuated APC alleles produce functional protein from internal translation initiation. Proc Natl Acad Sci U S A 2002;99:8161-6.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 8161-8166
    • Heppner Goss, K.1    Trzepacz, C.2    Tuohy, T.M.3
  • 19
    • 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 Khan P, 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;98:727-34.
    • (1996) Hum Genet , vol.98 , pp. 727-734
    • Van Der Luijt, R.B.1    Meera Khan, P.2    Vasen, H.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.