메뉴 건너뛰기




Volumn 20, Issue 1, 2008, Pages 1-7

Genetic testing and tumor surveillance for children with cancer predisposition syndromes

Author keywords

Cancer predisposition; Cancer surveillance; Genetic testing

Indexed keywords

BECKWITH WIEDEMANN SYNDROME; CANCER DIAGNOSIS; CANCER EPIDEMIOLOGY; CANCER RISK; CANCER STAGING; CANCER SUSCEPTIBILITY; CHILD CARE; CHILDHOOD CANCER; CLINICAL PRACTICE; EARLY DIAGNOSIS; EVIDENCE BASED PRACTICE; FAMILIAL CANCER; GENETIC PROCEDURES; HEMIHYPERTROPHY; HUMAN; MORBIDITY; MORTALITY; NEPHROBLASTOMA; OUTCOME ASSESSMENT; PATIENT CARE; PEDIATRICS; PRIORITY JOURNAL; QUALITY OF LIFE; RETINOBLASTOMA; REVIEW; SURVIVAL; TUMOR GROWTH;

EID: 38149091915     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e3282f4249a     Document Type: Review
Times cited : (37)

References (40)
  • 1
    • 33748870748 scopus 로고    scopus 로고
    • Hereditary cancer predisposition in children: Genetic basis and clinical implications
    • This minireview discusses the genetic basis and clinical issues related to the treatment of children with cancer-predisposing conditions, including retinoblastoma, Li-Fraumeni syndrome, multiple endocrine neoplasia and Fanconi anemia
    • Strahm B, Malkin D. Hereditary cancer predisposition in children: genetic basis and clinical implications. Int J Cancer 2006; 119:2001-2006. This minireview discusses the genetic basis and clinical issues related to the treatment of children with cancer-predisposing conditions, including retinoblastoma, Li-Fraumeni syndrome, multiple endocrine neoplasia and Fanconi anemia.
    • (2006) Int J Cancer , vol.119 , pp. 2001-2006
    • Strahm, B.1    Malkin, D.2
  • 2
    • 0038501057 scopus 로고    scopus 로고
    • American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility
    • American Society of Clinical Oncology
    • American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 2003; 21:2397-2406.
    • (2003) J Clin Oncol , vol.21 , pp. 2397-2406
  • 3
    • 3342996653 scopus 로고    scopus 로고
    • Retinoblastoma: Revisiting the model prototype of inherited cancer
    • Lohmann DR, Gallie BL. Retinoblastoma: revisiting the model prototype of inherited cancer. Am J Med Genet C Semin Med Genet 2004; 129:23-28.
    • (2004) Am J Med Genet C Semin Med Genet , vol.129 , pp. 23-28
    • Lohmann, D.R.1    Gallie, B.L.2
  • 4
    • 0030822570 scopus 로고    scopus 로고
    • Predictive testing for retinoblastoma comes of age [comment]
    • Gallie BL. Predictive testing for retinoblastoma comes of age [comment]. Am J Hum Genet 1997; 61:279-281.
    • (1997) Am J Hum Genet , vol.61 , pp. 279-281
    • Gallie, B.L.1
  • 5
    • 33846416905 scopus 로고    scopus 로고
    • Trilateral retinoblastoma with suprasellar tumor and associated pineal cyst
    • Popovic MB, Diezi M, Kuchler H, et al. Trilateral retinoblastoma with suprasellar tumor and associated pineal cyst. J Pediatr Hematol Oncol 2007; 29:53-56.
    • (2007) J Pediatr Hematol Oncol , vol.29 , pp. 53-56
    • Popovic, M.B.1    Diezi, M.2    Kuchler, H.3
  • 6
    • 0033064337 scopus 로고    scopus 로고
    • Trilateral retinoblastoma: A meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma
    • Kivela T. Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma. J Clin Oncol 1999; 17:1829-1837.
    • (1999) J Clin Oncol , vol.17 , pp. 1829-1837
    • Kivela, T.1
  • 7
    • 1542318327 scopus 로고    scopus 로고
    • Lifetime risks of common cancers among retinoblastoma survivors
    • Fletcher O, Easton D, Anderson K, et al. Lifetime risks of common cancers among retinoblastoma survivors. J Natl Cancer Instit 2004; 96:357-363.
    • (2004) J Natl Cancer Instit , vol.96 , pp. 357-363
    • Fletcher, O.1    Easton, D.2    Anderson, K.3
  • 8
    • 0022506980 scopus 로고
    • A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
    • Friend SH, Bernards R, Rogelj S, et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986; 323:643-646.
    • (1986) Nature , vol.323 , pp. 643-646
    • Friend, S.H.1    Bernards, R.2    Rogelj, S.3
  • 9
    • 0029033861 scopus 로고
    • The retinoblastoma protein and cell cycle control
    • Weinberg RA. The retinoblastoma protein and cell cycle control. Cell 1995; 81:323-330.
    • (1995) Cell , vol.81 , pp. 323-330
    • Weinberg, R.A.1
  • 10
    • 0024339365 scopus 로고
    • Parental origin of mutations of the retinoblastoma gene
    • Dryja TP, Mukai S, Petersen R, et al. Parental origin of mutations of the retinoblastoma gene. Nature 1989; 339:556-558.
    • (1989) Nature , vol.339 , pp. 556-558
    • Dryja, T.P.1    Mukai, S.2    Petersen, R.3
  • 11
    • 0037322272 scopus 로고    scopus 로고
    • Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma
    • Richter S, Vandezande K, Chen N, et al. Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. Am J Hum Genet 2003; 72:253-269.
    • (2003) Am J Hum Genet , vol.72 , pp. 253-269
    • Richter, S.1    Vandezande, K.2    Chen, N.3
  • 12
    • 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, et al. Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. Hum Mutat 2005; 25:566-574.
    • (2005) Hum Mutat , vol.25 , pp. 566-574
    • Nichols, K.E.1    Houseknecht, M.D.2    Godmilow, L.3
  • 13
    • 33745660090 scopus 로고    scopus 로고
    • Stage of presentation and visual outcome of patients screened for familial retinoblastoma: Nationwide registration in the Netherlands
    • Imhof SM, Moll AC, Schouten-van Meeteren AYN. Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands. Br J Ophthalmol 2006; 90:875-878.
    • (2006) Br J Ophthalmol , vol.90 , pp. 875-878
    • Imhof, S.M.1    Moll, A.C.2    Schouten-van Meeteren, A.Y.N.3
  • 14
    • 0033815806 scopus 로고    scopus 로고
    • At what age could screening for familial retinoblastoma be stopped? A register based study 1945-98
    • Moll AC, Imhof SM, Meeteren AY, Boers M. At what age could screening for familial retinoblastoma be stopped? A register based study 1945-98. Br J Ophthalmol 2000; 84:1170-1172.
    • (2000) Br J Ophthalmol , vol.84 , pp. 1170-1172
    • Moll, A.C.1    Imhof, S.M.2    Meeteren, A.Y.3    Boers, M.4
  • 15
    • 0346220249 scopus 로고    scopus 로고
    • Screening for retinoblastoma: Presenting signs as prognosticators of patient and ocular survival
    • Abramson DH, Beaverson K, Sangani P, et al. Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival. Pediatrics 2003; 112 (6 Pt 1):1248-1255.
    • (2003) Pediatrics , vol.112 , Issue.6 PART 1 , pp. 1248-1255
    • Abramson, D.H.1    Beaverson, K.2    Sangani, P.3
  • 16
    • 23444462050 scopus 로고    scopus 로고
    • Risk of tumorigenesis in overgrowth syndromes: A comprehensive review
    • Lapunzina P. Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. Am J Med Genet C Semin Med Genet 2005; 137:53-71.
    • (2005) Am J Med Genet C Semin Med Genet , vol.137 , pp. 53-71
    • Lapunzina, P.1
  • 17
    • 33747437581 scopus 로고    scopus 로고
    • Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: A critical review of the evidence and suggested guidelines for local practice
    • Health, This article presents guidelines for tumor surveillance in patients with BWS
    • Tan TY, Amor DJ. Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice. J Paediatr Child Health 2006; 42:486-490. This article presents guidelines for tumor surveillance in patients with BWS.
    • (2006) J Paediatr Child , vol.42 , pp. 486-490
    • Tan, T.Y.1    Amor, D.J.2
  • 18
    • 34250134720 scopus 로고
    • Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome
    • Weideman H-R. Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr 1983; 141:129.
    • (1983) Eur J Pediatr , vol.141 , pp. 129
    • Weideman, H.-R.1
  • 19
    • 0031940675 scopus 로고    scopus 로고
    • Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry
    • DeBaun MR, Tucker MA. Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry. J Pediatr 1998; 132 (3 Pt 1):398-400.
    • (1998) J Pediatr , vol.132 , Issue.3 PART 1 , pp. 398-400
    • DeBaun, M.R.1    Tucker, M.A.2
  • 20
    • 18444369997 scopus 로고    scopus 로고
    • Renal abnormalities in Beckwith-Wiedemann syndrome are associated with 11p15.5 uniparental disomy
    • Goldman M, Smith A, Shuman C, et al. Renal abnormalities in Beckwith-Wiedemann syndrome are associated with 11p15.5 uniparental disomy. J Am Soc Nephrol 2002; 13:2077-2084.
    • (2002) J Am Soc Nephrol , vol.13 , pp. 2077-2084
    • Goldman, M.1    Smith, A.2    Shuman, C.3
  • 21
    • 0034530186 scopus 로고    scopus 로고
    • Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
    • Engel JR, Smallwood A, Harper A, et al. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. J Med Genet 2000; 37:921-926.
    • (2000) J Med Genet , vol.37 , pp. 921-926
    • Engel, J.R.1    Smallwood, A.2    Harper, A.3
  • 22
    • 21644461973 scopus 로고    scopus 로고
    • Tumor risk in Beckwith-Wiedemann syndrome: A reviewand meta-analysis
    • Rump P, Zeegers MP, van Essen AJ. Tumor risk in Beckwith-Wiedemann syndrome: a reviewand meta-analysis. Am J Med Genet A 2005; 136:95-104.
    • (2005) Am J Med Genet A , vol.136 , pp. 95-104
    • Rump, P.1    Zeegers, M.P.2    van Essen, A.J.3
  • 23
    • 0036182963 scopus 로고    scopus 로고
    • Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects
    • DeBaun MR, Niemitz EL, McNeil DE, et al. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet 2002; 70:604-611.
    • (2002) Am J Hum Genet , vol.70 , pp. 604-611
    • DeBaun, M.R.1    Niemitz, E.L.2    McNeil, D.E.3
  • 24
    • 0035283019 scopus 로고    scopus 로고
    • Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: Occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS
    • Bliek J, Maas SM, Ruijter JM, et al. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Hum Mol Genet 2001; 10:467-476.
    • (2001) Hum Mol Genet , vol.10 , pp. 467-476
    • Bliek, J.1    Maas, S.M.2    Ruijter, J.M.3
  • 25
    • 0033604086 scopus 로고    scopus 로고
    • Growth rate of Wilms' tumour
    • Craft AW. Growth rate of Wilms' tumour. Lancet 1999; 354:1127.
    • (1999) Lancet , vol.354 , pp. 1127
    • Craft, A.W.1
  • 26
    • 0034799046 scopus 로고    scopus 로고
    • Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: A costeffective model
    • McNeil DE, Brown M, Ching A, DeBaun MR. Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: a costeffective model. Med Pediatr Oncol 2001; 37:349-356.
    • (2001) Med Pediatr Oncol , vol.37 , pp. 349-356
    • McNeil, D.E.1    Brown, M.2    Ching, A.3    DeBaun, M.R.4
  • 27
    • 33748051060 scopus 로고    scopus 로고
    • Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy
    • Choyke PL, Siegel MJ, Craft AW, et al. Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy. Med Pediatr Oncol 1999; 32:196-200.
    • (1999) Med Pediatr Oncol , vol.32 , pp. 196-200
    • Choyke, P.L.1    Siegel, M.J.2    Craft, A.W.3
  • 28
    • 0042834211 scopus 로고    scopus 로고
    • Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia
    • Clericuzio CL, Chen E, McNeil DE, et al. Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. J Pediatr 2003; 143:270-272.
    • (2003) J Pediatr , vol.143 , pp. 270-272
    • Clericuzio, C.L.1    Chen, E.2    McNeil, D.E.3
  • 29
    • 0034234863 scopus 로고    scopus 로고
    • Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome
    • Everman DB, Shuman C, Dzolganovski B, et al. Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome. J Pediatr 2000; 137:123-127.
    • (2000) J Pediatr , vol.137 , pp. 123-127
    • Everman, D.B.1    Shuman, C.2    Dzolganovski, B.3
  • 32
    • 33749266701 scopus 로고    scopus 로고
    • Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour
    • This is a comprehensive review of the syndromic and nonsyndromic genetic conditions associated with increased risk for development of WT
    • Scott RH, Stiller CA, Walker L, Rahman N. Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet 2006; 43:705-715. This is a comprehensive review of the syndromic and nonsyndromic genetic conditions associated with increased risk for development of WT.
    • (2006) J Med Genet , vol.43 , pp. 705-715
    • Scott, R.H.1    Stiller, C.A.2    Walker, L.3    Rahman, N.4
  • 34
    • 0030017174 scopus 로고    scopus 로고
    • Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12-q21
    • Rahman N, Arbour L, Tonin P, et al. Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12-q21. Nat Genet 1996; 13:461-463.
    • (1996) Nat Genet , vol.13 , pp. 461-463
    • Rahman, N.1    Arbour, L.2    Tonin, P.3
  • 35
    • 0032053822 scopus 로고    scopus 로고
    • Linkage of familial Wilms' tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors
    • McDonald JM, Douglass EC, Fisher R, et al. Linkage of familial Wilms' tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors. Cancer Res 1998; 58:1387-1390.
    • (1998) Cancer Res , vol.58 , pp. 1387-1390
    • McDonald, J.M.1    Douglass, E.C.2    Fisher, R.3
  • 36
    • 0025788974 scopus 로고
    • WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour
    • Pelletier J, Bruening W, Li FP, et al. WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. Nature 1991; 353:431-434.
    • (1991) Nature , vol.353 , pp. 431-434
    • Pelletier, J.1    Bruening, W.2    Li, F.P.3
  • 37
    • 0032476037 scopus 로고    scopus 로고
    • Wilms tumor genetics
    • Huff V. Wilms tumor genetics. Am J Med Genet 1998; 79:260-267.
    • (1998) Am J Med Genet , vol.79 , pp. 260-267
    • Huff, V.1
  • 38
    • 2542462400 scopus 로고    scopus 로고
    • Twenty-four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development
    • Royer-Pokora B, Beier M, Henzler M, et al. Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. Am J Med Genet A 2004; 127:249-257.
    • (2004) Am J Med Genet A , vol.127 , pp. 249-257
    • Royer-Pokora, B.1    Beier, M.2    Henzler, M.3
  • 39
    • 7044262957 scopus 로고    scopus 로고
    • Frequency and heritability of WT1 mutations in nonsyndromic Wilms' tumor patients: A UK Children's Cancer Study Group Study
    • Little SE, Hanks SP, King-Underwood L, et al. Frequency and heritability of WT1 mutations in nonsyndromic Wilms' tumor patients: a UK Children's Cancer Study Group Study. J Clin Oncol 2004; 22:4140-4146.
    • (2004) J Clin Oncol , vol.22 , pp. 4140-4146
    • Little, S.E.1    Hanks, S.P.2    King-Underwood, L.3
  • 40
    • 33845269523 scopus 로고    scopus 로고
    • Scott RH, Walker L, Olsen OE, et al. Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice. Arch Dis Child 2006; 91:995-999. This manuscript provides recommendations for Wilms' tumor surveillance based on a review of available evidence from the literature.
    • Scott RH, Walker L, Olsen OE, et al. Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice. Arch Dis Child 2006; 91:995-999. This manuscript provides recommendations for Wilms' tumor surveillance based on a review of available evidence from the literature.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.