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Volumn 21, Issue 6, 2009, Pages 717-723

Developmental defects and childhood cancer

Author keywords

Beckwith Wiedemann syndrome; Cancer genetics; Childhood cancer syndromes; Cowden syndrome; Hemihypertrophy; Neurofibromatosis type 1; PTEN hamartoma tumor syndrome

Indexed keywords

APC PROTEIN; ATM PROTEIN; BLOOM SYNDROME HELICASE; FANCONI ANEMIA GROUP A PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; NEUROFIBROMIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE LKB1; PROTEIN P53; PROTEIN PATCHED; PROTEIN RET; RAS PROTEIN; RETINOBLASTOMA PROTEIN; TRANSCRIPTION FACTOR PAX6; VON HIPPEL LINDAU PROTEIN; WT1 PROTEIN;

EID: 74549154987     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e328332c612     Document Type: Review
Times cited : (7)

References (37)
  • 2
    • 0031454707 scopus 로고    scopus 로고
    • The National Cancer Data Base report on patterns of childhood cancers in the United States
    • Grovas A, Fremgen A, Rauck A, et al. The National Cancer Data Base report on patterns of childhood cancers in the United States. Cancer 1997; 80:2321-2332.
    • (1997) Cancer , vol.80 , pp. 2321-2332
    • Grovas, A.1    Fremgen, A.2    Rauck, A.3
  • 3
    • 0034071085 scopus 로고    scopus 로고
    • P53 germline mutations in childhood cancers and cancer risk for carrier individuals
    • Chompret A, Brugiè res L, Ronsin M, et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 2000; 82:1932-1937.
    • (2000) Br J Cancer , vol.82 , pp. 1932-1937
    • Chompret, A.1    Brugières, L.2    Ronsin, M.3
  • 4
    • 74549209652 scopus 로고    scopus 로고
    • Retinoblastoma
    • 7 May [Accessed June 2009]
    • Lohmann DR, Gallie BL. Retinoblastoma. NCBI GeneTest, 7 May 2007. www.geneclinics.org. [Accessed June 2009]
    • (2007) NCBI GeneTest
    • Lohmann, D.R.1    Gallie, B.L.2
  • 5
    • 0035522894 scopus 로고    scopus 로고
    • Two genetic hits (more or less) to cancer
    • Knudson AG. Two genetic hits (more or less) to cancer. Nat Rev Cancer 2001; 1:157-162.
    • (2001) Nat Rev Cancer , vol.1 , pp. 157-162
    • Knudson, A.G.1
  • 6
    • 59449101518 scopus 로고    scopus 로고
    • Neurofibromatosis type 1 revisited
    • Williams VC, Lucas J, Babcock MA, et al. Neurofibromatosis type 1 revisited. Pediatrics 2009; 123:124-133.
    • (2009) Pediatrics , vol.123 , pp. 124-133
    • Williams, V.C.1    Lucas, J.2    Babcock, M.A.3
  • 7
    • 33745486561 scopus 로고    scopus 로고
    • The genetic and molecular pathogenesis of NF1 and NF2
    • Yohay KH. The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol 2006; 13:21-26.
    • (2006) Semin Pediatr Neurol , vol.13 , pp. 21-26
    • Yohay, K.H.1
  • 8
    • 61349163644 scopus 로고    scopus 로고
    • Noonan syndrome and related disorders: A review of clinical features and mutations in genes of the RAS/ MAPK pathway
    • Jorge AA, Malaquias AC, Arnhold IJ, et al. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/ MAPK pathway. Horm Res 2009; 71:185-193.
    • (2009) Horm Res , vol.71 , pp. 185-193
    • Jorge, A.A.1    Malaquias, A.C.2    Arnhold, I.J.3
  • 9
    • 0023885121 scopus 로고
    • National Institutes of Health Consensus Development Conference statement: Neurofibromatosis
    • National Institutes of Health Consensus Development Conference statement: neurofibromatosis. Arch Neurol Chicago 1988; 45:575-578.
    • (1988) Arch Neurol Chicago , vol.45 , pp. 575-578
  • 10
    • 33847316896 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (NF1)
    • Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (NF1). J Med Genet 2007; 44:81-88.
    • (2007) J Med Genet , vol.44 , pp. 81-88
    • Ferner, R.E.1    Huson, S.M.2    Thomas, N.3
  • 11
    • 0001259749 scopus 로고    scopus 로고
    • NCCN practice guidelines: Genetics/familial high risk cancer
    • National Comprehensive Cancer Network
    • National Comprehensive Cancer Network. NCCN practice guidelines: genetics/familial high risk cancer. Oncology 1999; 13:161-186.
    • (1999) Oncology , vol.13 , pp. 161-186
  • 12
    • 12344306095 scopus 로고    scopus 로고
    • Counselling in multiple endocrine neoplasia syndromes: From individual experience to general guidelines
    • Lips CJ, Hoppener JW, Van Nesselrooij BP, Van der Luijt RB. Counselling in multiple endocrine neoplasia syndromes: from individual experience to general guidelines. J Intern Med 2005; 257:69-77.
    • (2005) J Intern Med , vol.257 , pp. 69-77
    • Lips, C.J.1    Hoppener, J.W.2    Van Nesselrooij, B.P.3    Van Der Luijt, R.B.4
  • 13
    • 12344286891 scopus 로고    scopus 로고
    • Biochemical diagnosis, localization and management of pheochromocytoma: Focus on multiple endocrine neoplasia type 2 in relation to other hereditary syndromes and sporadic forms of the tumour
    • Pacak K, Ilias I, Adams KT, Eisenhofer G. Biochemical diagnosis, localization and management of pheochromocytoma: focus on multiple endocrine neoplasia type 2 in relation to other hereditary syndromes and sporadic forms of the tumour. J Intern Med 2005; 257:60-68.
    • (2005) J Intern Med , vol.257 , pp. 60-68
    • Pacak, K.1    Ilias, I.2    Adams, K.T.3    Eisenhofer, G.4
  • 14
    • 20444448454 scopus 로고    scopus 로고
    • Management of the patient and family with neurofibromatosis 2: A consensus conference statement
    • Evans DG, Baser ME, O'Reilly B, et al. Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg 2005; 19:5-12.
    • (2005) Br J Neurosurg , vol.19 , pp. 5-12
    • Evans, D.G.1    Baser, M.E.2    O'Reilly, B.3
  • 15
    • 74549201089 scopus 로고    scopus 로고
    • Von hippel lindau syndrome
    • 20 March [Accessed June 2009]
    • Schimke RN, Collins DL, Dtolle CA. Von Hippel Lindau Syndrome. NCBI GeneTest, 20 March 2007. www.geneclinics.org. [Accessed June 2009].
    • (2007) NCBI GeneTest
    • Schimke, R.N.1    Collins, D.L.2    Dtolle, C.A.3
  • 16
    • 0033603081 scopus 로고    scopus 로고
    • Recognition and management of childhood cancer syndromes: A systems approach
    • Clericuzio CL. Recognition and management of childhood cancer syndromes: a systems approach. Am J Med Genet 1999; 89:81-90.
    • (1999) Am J Med Genet , vol.89 , pp. 81-90
    • Clericuzio, C.L.1
  • 17
    • 51449120932 scopus 로고    scopus 로고
    • Concise handbook of familial cancer susceptibility syndromes: Second edition
    • Lindor NM, McMaster ML, Lindor CJ, et al. Concise handbook of familial cancer susceptibility syndromes: second edition. J Natl Cancer Inst Monogr 2008; 38:1-93.
    • (2008) J Natl Cancer Inst Monogr , vol.38 , pp. 1-93
    • Lindor, N.M.1    McMaster, M.L.2    Lindor, C.J.3
  • 18
    • 63449129594 scopus 로고    scopus 로고
    • Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia
    • Clericuzio CL, Martin RA. Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. Genet Med 2009; 11:220-222.
    • (2009) Genet Med , vol.11 , pp. 220-222
    • Clericuzio, C.L.1    Martin, R.A.2
  • 19
    • 33745001462 scopus 로고    scopus 로고
    • Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: Substantial risks after radiotherapy
    • Sharif S, Ferner R, Birch JM, et al. Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy. J Clin Oncol 2006; 24:2570-2575.
    • (2006) J Clin Oncol , vol.24 , pp. 2570-2575
    • Sharif, S.1    Ferner, R.2    Birch, J.M.3
  • 21
    • 34447562827 scopus 로고    scopus 로고
    • Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
    • Sharif S, Moran A, Huson SM, et al. Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet 2007; 44:481-484.
    • (2007) J Med Genet , vol.44 , pp. 481-484
    • Sharif, S.1    Moran, A.2    Huson, S.M.3
  • 23
    • 0031284743 scopus 로고    scopus 로고
    • New p57KIP2 mutations in Beckwith-Wiedemann syndrome
    • Hatada I, Nabetani A, Morisaki H, et al. New p57KIP2 mutations in Beckwith- Wiedemann syndrome. Hum Genet 1997; 100:681-683.
    • (1997) Hum Genet , vol.100 , pp. 681-683
    • Hatada, I.1    Nabetani, A.2    Morisaki, H.3
  • 25
    • 0030471357 scopus 로고    scopus 로고
    • Clinical features in the Wiedemann-Beckwith syndrome
    • Martinez R, Martinez Y. Clinical features in the Wiedemann-Beckwith syndrome. Clin Genet 1996; 50:272-274.
    • (1996) Clin Genet , vol.50 , pp. 272-274
    • Martinez, R.1    Martinez, Y.2
  • 26
    • 74549162815 scopus 로고    scopus 로고
    • PTEN Hamartoma tumor syndrome (PHTS)
    • 5 May [Accessed June 2009]
    • Eng C. PTEN Hamartoma tumor syndrome (PHTS). NCBI GeneTest, 5 May 2009. www.geneclinics.org. [Accessed June 2009]
    • (2009) NCBI GeneTest
    • Eng, C.1
  • 27
    • 0042316755 scopus 로고    scopus 로고
    • PTEN: One gene, many syndromes
    • Eng C. PTEN: one gene, many syndromes. Hum Mutat 2003; 22:183-198.
    • (2003) Hum Mutat , vol.22 , pp. 183-198
    • Eng, C.1
  • 28
    • 24944568790 scopus 로고    scopus 로고
    • Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosis
    • Chung JH, Eng C. Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosis. Cancer Res 2005; 65:8096-8100.
    • (2005) Cancer Res , vol.65 , pp. 8096-8100
    • Chung, J.H.1    Eng, C.2
  • 29
    • 33745251706 scopus 로고    scopus 로고
    • Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome
    • DOI 10.1086/504392
    • Sarquis MS, Agrawal S, Shen L, et al. Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan- Riley-Ruvalcaba Syndrome. Am J Human Genet 2006; 79:23-30. (Pubitemid 43927373)
    • (2006) American Journal of Human Genetics , vol.79 , Issue.1 , pp. 23-30
    • Sarquis, M.S.1    Agrawal, S.2    Shen, L.3    Pilarski, R.4    Zhou, X.-P.5    Eng, C.6
  • 30
    • 0032905101 scopus 로고    scopus 로고
    • Novel PTEN mutations in patients with Cowden disease: Absence of clear genotype-phenotype correlations
    • Nelen MR, Kremer H, Konings IB, et al. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet 1999; 7:267-273.
    • (1999) Eur J Hum Genet , vol.7 , pp. 267-273
    • Nelen, M.R.1    Kremer, H.2    Konings, I.B.3
  • 31
    • 0033738748 scopus 로고    scopus 로고
    • Will the real Cowden syndrome please stand up: Revised diagnostic criteria
    • Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000; 37:828-830.
    • (2000) J Med Genet , vol.37 , pp. 828-830
    • Eng, C.1
  • 33
    • 0032913743 scopus 로고    scopus 로고
    • Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation
    • Biesecker LG, Happle R, Mulliken JB, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 1999; 84:389-395.
    • (1999) Am J Med Genet , vol.84 , pp. 389-395
    • Biesecker, L.G.1    Happle, R.2    Mulliken, J.B.3
  • 34
    • 0022649866 scopus 로고
    • The Cowden syndrome: A clinical and genetic study in 21 patients
    • Starink TM, van der Veen JP, Arwert F, et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986; 29:222-233.
    • (1986) Clin Genet , vol.29 , pp. 222-233
    • Starink, T.M.1    Van Der Veen, J.P.2    Arwert, F.3
  • 35
    • 33845875992 scopus 로고    scopus 로고
    • Cancer phenomics: RET and PTEN as illustrative models
    • Zbuk KM, Eng C. Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer 2007; 7:35-45.
    • (2007) Nat Rev Cancer , vol.7 , pp. 35-45
    • Zbuk, K.M.1    Eng, C.2
  • 36
    • 3042611737 scopus 로고    scopus 로고
    • Imatinib mesylate in the treatment of chronic myelogenous leukemia
    • Borthakur G, Cortes JE. Imatinib mesylate in the treatment of chronic myelogenous leukemia. Int J Hematol 2004; 79:411-419.
    • (2004) Int J Hematol , vol.79 , pp. 411-419
    • Borthakur, G.1    Cortes, J.E.2
  • 37
    • 45749112148 scopus 로고    scopus 로고
    • Induction of apoptosis in neurofibromatosis type 1 malignant peripheral nerve sheath tumor cell lines by a combination of novel farnesyl transferase inhibitors and lovastatin
    • Wojtkowiak JW, Fouad F, LaLonde DT, et al. Induction of apoptosis in neurofibromatosis type 1 malignant peripheral nerve sheath tumor cell lines by a combination of novel farnesyl transferase inhibitors and lovastatin. J Pharmacol Exp Ther 2008; 326:1-11.
    • (2008) J Pharmacol Exp Ther , vol.326 , pp. 1-11
    • Wojtkowiak, J.W.1    Fouad, F.2    Lalonde, D.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.