메뉴 건너뛰기




Volumn 51, Issue 3, 2014, Pages 208-214

Spectrum of RB1 mutations identified in 403 retinoblastoma patients

Author keywords

[No Author keywords available]

Indexed keywords

GENETIC SCREENING/COUNSELLING;

EID: 84894497850     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101821     Document Type: Article
Times cited : (55)

References (45)
  • 1
    • 33747101613 scopus 로고    scopus 로고
    • Retinoblastoma incidence and survival in European children (1978-1997) Report from the Automated Childhood Cancer Information System project.
    • MacCarthy A, Draper GJ, Steliarova-Foucher E, Kingston JE. Retinoblastoma incidence and survival in European children (1978-1997). Report from the Automated Childhood Cancer Information System project. Eur J Cancer 2006;42:2092-102.
    • (2006) Eur J Cancer , vol.42 , pp. 2092-2102
    • MacCarthy, A.1    Draper, G.J.2    Steliarova-Foucher, E.3    Kingston, J.E.4
  • 3
    • 0023106062 scopus 로고
    • Human retinoblastoma susceptibility gene: cloning, identification and sequence
    • Lee WH, Bookstein R, Hong F, Young LJ, Shew JY, Lee EY. Human retinoblastoma susceptibility gene: cloning, identification and sequence. Science 1987;235:1394-9.
    • (1987) Science , vol.235 , pp. 1394-1399
    • Lee, W.H.1    Bookstein, R.2    Hong, F.3    Young, L.J.4    Shew, J.Y.5    Lee, E.Y.6
  • 5
    • 84856535848 scopus 로고    scopus 로고
    • Understanding pRb: toward the necessary development of targeted treatments for retinoblastoma
    • Sachdeva UM, O'Brien JM. Understanding pRb: toward the necessary development of targeted treatments for retinoblastoma. J Clin Invest 2012;122:425-34.
    • (2012) J Clin Invest , vol.122 , pp. 425-434
    • Sachdeva, U.M.1    O'Brien, J.M.2
  • 6
    • 0015043748 scopus 로고
    • Mutation and cancer: statistical study of retinoblastoma
    • Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971;68:820-3.
    • (1971) Proc Natl Acad Sci USA , vol.68 , pp. 820-823
    • Knudson, Jr.A.G.1
  • 7
    • 0015749593 scopus 로고
    • A general theory of carcinogenesis
    • Comings DE. A general theory of carcinogenesis. Proc Natl Acad Sci USA 1973;70:3324-8.
    • (1973) Proc Natl Acad Sci USA , vol.70 , pp. 3324-3328
    • Comings, D.E.1
  • 8
    • 0018642114 scopus 로고
    • The genetics of retinoblastoma
    • Vogel W. The genetics of retinoblastoma. Hum Genet 1979;52:1-54.
    • (1979) Hum Genet , vol.52 , pp. 1-54
    • Vogel, W.1
  • 9
    • 0026721945 scopus 로고
    • Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype
    • Onadim Z, Hogg A, Baird PN, Cowell JK. Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. Proc Natl Acad Sci USA 1992;89:6177-81.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 6177-6181
    • Onadim, Z.1    Hogg, A.2    Baird, P.N.3    Cowell, J.K.4
  • 11
    • 84894467282 scopus 로고
    • Second primary neoplasms in patients with retinoblastoma
    • Draper GJ, Sanders BM, Kingston JE. Second primary neoplasms in patients with retinoblastoma. Br J Cancer 1986;27:171-4.
    • (1986) Br J Cancer , vol.27 , pp. 171-174
    • Draper, G.J.1    Sanders, B.M.2    Kingston, J.E.3
  • 13
    • 0026718136 scopus 로고
    • Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing
    • Hogg A, Onadim Z, Baird PN, Cowell JK. Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing. Oncogene 1992;7:1445-57.
    • (1992) Oncogene , vol.7 , pp. 1445-1457
    • Hogg, A.1    Onadim, Z.2    Baird, P.N.3    Cowell, J.K.4
  • 15
    • 0029814661 scopus 로고    scopus 로고
    • Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma
    • Noorani HZ, Khan HN, Gallie BL, Detsky AS. Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. Am J Hum Genet 1996;59:301-7.
    • (1996) Am J Hum Genet , vol.59 , pp. 301-307
    • Noorani, H.Z.1    Khan, H.N.2    Gallie, B.L.3    Detsky, A.S.4
  • 16
    • 0027297105 scopus 로고
    • Molecular mechanisms of oncogenic mutations in tumours from patients with bilateral and unilateral retinoblastoma
    • Hogg A, Bia B, Onadim Z, Cowell JK. Molecular mechanisms of oncogenic mutations in tumours from patients with bilateral and unilateral retinoblastoma. Proc Natl Acad Sci USA 1993;90:7351-5.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 7351-7355
    • Hogg, A.1    Bia, B.2    Onadim, Z.3    Cowell, J.K.4
  • 19
    • 0027537296 scopus 로고
    • CpG methylation inactivates the promoter activity of the human retinoblastoma tumor-suppressor gene
    • Ohtani-Fujita N, Fujita T, Aoike A, Osifchin NE, Robbins PD, Sakai T. CpG methylation inactivates the promoter activity of the human retinoblastoma tumor-suppressor gene. Oncogene 1993;8:1063-7.
    • (1993) Oncogene , vol.8 , pp. 1063-1067
    • Ohtani-Fujita, N.1    Fujita, T.2    Aoike, A.3    Osifchin, N.E.4    Robbins, P.D.5    Sakai, T.6
  • 20
    • 0025777772 scopus 로고
    • Application of PCR amplification of DNA from paraffin embedded tissue sections to linkage analysis in familial retinoblastoma
    • Onadim Z, Cowell JK. Application of PCR amplification of DNA from paraffin embedded tissue sections to linkage analysis in familial retinoblastoma. J Med Genet 1991;28:312-14.
    • (1991) J Med Genet , vol.28 , pp. 312-314
    • Onadim, Z.1    Cowell, J.K.2
  • 21
    • 0032882050 scopus 로고    scopus 로고
    • RB1 gene mutations in retinoblastoma
    • Lohmann DR. RB1 gene mutations in retinoblastoma. Hum Mutat 1999;14:283-8. http://www.d-lohmann.de/Rb/mutation.html
    • (1999) Hum Mutat , vol.14 , pp. 283-288
    • Lohmann, D.R.1
  • 23
    • 84894475875 scopus 로고    scopus 로고
    • The Diagnostic Mutation Database (DMuDB)
    • The Diagnostic Mutation Database (DMuDB). http://www.ngrl.org.uk/Manchester/ projects/informatics/dmudb
  • 24
    • 84894493223 scopus 로고    scopus 로고
    • Diagnostic SNPCheck (SNPCheck)
    • Diagnostic SNPCheck (SNPCheck). http://www.ngrl.org.uk/Manchester/projects/ informatics/snpcheck
  • 25
    • 0030016279 scopus 로고    scopus 로고
    • Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis
    • Yau SC, Bobrow M, Mathew CG, Abbs SJ. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996;33:550-8.
    • (1996) J Med Genet , vol.33 , pp. 550-558
    • Yau, S.C.1    Bobrow, M.2    Mathew, C.G.3    Abbs, S.J.4
  • 26
    • 0029762617 scopus 로고    scopus 로고
    • Domains A and B in the Rb pocket interact to form a transcriptional repressor motif
    • Chow KN, Dean DC. Domains A and B in the Rb pocket interact to form a transcriptional repressor motif. Mol Cell Biol 1996;16:4862-8.
    • (1996) Mol Cell Biol , vol.16 , pp. 4862-4868
    • Chow, K.N.1    Dean, D.C.2
  • 28
    • 20344399159 scopus 로고    scopus 로고
    • Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene
    • Nichols KE, Houseknecht MD, Godmilow L, Bunin G, Shields C, Meadows A, Ganguly A. Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. Hum Mutat 2005;25:566-74.
    • (2005) Hum Mutat , vol.25 , pp. 566-574
    • Nichols, K.E.1    Houseknecht, M.D.2    Godmilow, L.3    Bunin, G.4    Shields, C.5    Meadows, A.6    Ganguly, A.7
  • 30
    • 27844480644 scopus 로고    scopus 로고
    • RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database
    • Valverde JR, Alonso J, Palacios I, Pestaña A. RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database. BMC Genet 2005;6:53.
    • (2005) BMC Genet , vol.6 , pp. 53
    • Valverde, J.R.1    Alonso, J.2    Palacios, I.3    Pestaña, A.4
  • 33
    • 59449090130 scopus 로고    scopus 로고
    • Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma
    • Mitter D, Rushlow D, Nowak I, Ansperger-Rescher B, Gallie BL, Lohmann DR. Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma. Fam Cancer 2009;8:55-8.
    • (2009) Fam Cancer , vol.8 , pp. 55-58
    • Mitter, D.1    Rushlow, D.2    Nowak, I.3    Ansperger-Rescher, B.4    Gallie, B.L.5    Lohmann, D.R.6
  • 34
    • 49149098054 scopus 로고    scopus 로고
    • A meta-analysis of nonsense mutations causing human genetic disease
    • Mort M, Ivanov D, Cooper DN, Chuzhanova NA. A meta-analysis of nonsense mutations causing human genetic disease. Hum Mutat 2008;29:1037-47.
    • (2008) Hum Mutat , vol.29 , pp. 1037-1047
    • Mort, M.1    Ivanov, D.2    Cooper, D.N.3    Chuzhanova, N.A.4
  • 35
    • 85027932742 scopus 로고    scopus 로고
    • Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides as well as in CpG dinucleotides
    • Cooper DC, Mart M, Stenson PD, Ball EV, Chuzhanova NA. Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides as well as in CpG dinucleotides. Hum Genomics 2010;4:406-10.
    • (2010) Hum Genomics , vol.4 , pp. 406-410
    • Cooper, D.C.1    Mart, M.2    Stenson, P.D.3    Ball, E.V.4    Chuzhanova, N.A.5
  • 37
    • 0025900744 scopus 로고
    • Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene
    • Sakai T, Ohtani N, McGee TL, Robbins PD, Dryja TP. Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature 1991;353:83-6.
    • (1991) Nature , vol.353 , pp. 83-86
    • Sakai, T.1    Ohtani, N.2    McGee, T.L.3    Robbins, P.D.4    Dryja, T.P.5
  • 38
    • 0029671147 scopus 로고    scopus 로고
    • A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene
    • Cowell JK, Bia B, Akoulitchev A. A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene. Oncogene 1996;12:431-6.
    • (1996) Oncogene , vol.12 , pp. 431-436
    • Cowell, J.K.1    Bia, B.2    Akoulitchev, A.3
  • 39
    • 0030957901 scopus 로고    scopus 로고
    • Bilateral retinoblastoma in a male patient with an X; 13 translocation: evidence for silencing of the RB1 gene by the spreading of X inactivation
    • Jones C, Booth C, Rita D, Jazmines L, Brandt B, Newlan A, Horsthemke B. Bilateral retinoblastoma in a male patient with an X; 13 translocation: evidence for silencing of the RB1 gene by the spreading of X inactivation. Am J Hum Genet 1997;60:1558-62.
    • (1997) Am J Hum Genet , vol.60 , pp. 1558-1562
    • Jones, C.1    Booth, C.2    Rita, D.3    Jazmines, L.4    Brandt, B.5    Newlan, A.6    Horsthemke, B.7
  • 40
    • 0034762772 scopus 로고    scopus 로고
    • Molecular basis of low-penetrance retinoblastoma
    • Harbour JW. Molecular basis of low-penetrance retinoblastoma. Arch Ophthalmol 2001;119:1699-704.
    • (2001) Arch Ophthalmol , vol.119 , pp. 1699-1704
    • Harbour, J.W.1
  • 41
    • 42049110799 scopus 로고    scopus 로고
    • Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression
    • Zhang K, Nowak I, Rushlow D, Gallie BL, Lohmann DR. Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression. Hum Mut 2008;29:475-84.
    • (2008) Hum Mut , vol.29 , pp. 475-484
    • Zhang, K.1    Nowak, I.2    Rushlow, D.3    Gallie, B.L.4    Lohmann, D.R.5
  • 43
    • 0037163737 scopus 로고    scopus 로고
    • High level amplification of N-MYC is not associated with adverse histology or outcome in primary retinoblastoma tumours
    • Lillington DM, Goff LK, Kingston JE, Onadim Z, Price E, Domizio P, Young BD. High level amplification of N-MYC is not associated with adverse histology or outcome in primary retinoblastoma tumours. Br J Cancer 2002;87:779-82.
    • (2002) Br J Cancer , vol.87 , pp. 779-782
    • Lillington, D.M.1    Goff, L.K.2    Kingston, J.E.3    Onadim, Z.4    Price, E.5    Domizio, P.6    Young, B.D.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.