Identification of ALK as a major familial neuroblastoma predisposition gene (original) (raw)

• Maris, J. M., Hogarty, M. D., Bagatell, R. & Cohn, S. L. Neuroblastoma. Lancet 369, 2106–2120 (2007)
  Article CAS Google Scholar
• Matthay, K. K. et al. Treatment of high-risk neuroblastoma with intensive chemotherapy, radiotherapy, autologous bone marrow transplantation, and 13-cis-retinoic acid. Children’s Cancer Group. N. Engl. J. Med. 341, 1165–1173 (1999)
  Article CAS Google Scholar
• Schwab, M. et al. Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc . Nature 308, 288–291 (1984)
  Article ADS CAS Google Scholar
• Attiyeh, E. F. et al. Chromosome 1p and 11q deletions and outcome in neuroblastoma. N. Engl. J. Med. 353, 2243–2253 (2005)
  Article CAS Google Scholar
• Knudson, A. G. J. & Strong, L. C. Mutation and cancer: Neuroblastoma and pheochromocytoma. Am. J. Hum. Genet. 24, 514–522 (1972)
  PubMed PubMed Central Google Scholar
• Kushner, B. H., Gilbert, F. & Helson, L. Familial neuroblastoma. Case reports, literature review, and etiologic considerations. Cancer 57, 1887–1893 (1986)
  Article CAS Google Scholar
• Maris, J. M. et al. Molecular genetic analysis of familial neuroblastoma. Eur. J. Cancer 33, 1923–1928 (1997)
  Article CAS Google Scholar
• Friedman, D. L. et al. Increased risk of cancer among siblings of long-term childhood cancer survivors: a report from the childhood cancer survivor study. Cancer Epidemiol. Biomarkers Prev. 14, 1922–1927 (2005)
  Article Google Scholar
• Maris, J. M. & Brodeur, G. M. in Neuroblastoma (eds Cheung, N.-K. V. & Cohn, S. L.) 21–26 (Springer, 2005)
  Book Google Scholar
• Longo, L. et al. Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p. Hum. Hered. 63, 205–211 (2007)
  Article Google Scholar
• Maris, J. M. et al. Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12–13. Cancer Res. 62, 6651–6658 (2002)
  CAS PubMed Google Scholar
• Perri, P. et al. Weak linkage at 4p16 to predisposition for human neuroblastoma. Oncogene 21, 8356–8360 (2002)
  Article CAS Google Scholar
• Amiel, J. et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nature Genet. 33, 459–461 (2003)
  Article CAS Google Scholar
• Mosse, Y. P. et al. Germline PHOX2B mutation in hereditary neuroblastoma. Am. J. Hum. Genet. 75, 727–730 (2004)
  Article CAS Google Scholar
• Trochet, D. et al. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am. J. Hum. Genet. 74, 761–764 (2004)
  Article CAS Google Scholar
• Raabe, E. H. et al. Prevalence and functional consequence of PHOX2B mutations in neuroblastoma. Oncogene 27, 469–476 (2008)
  Article CAS Google Scholar
• van Limpt, V. et al. The Phox2B homeobox gene is mutated in sporadic neuroblastomas. Oncogene 23, 9280–9288 (2004)
  Article CAS Google Scholar
• Weiss, W. A., Aldape, K., Mohapatra, G., Feuerstein, B. G. & Bishop, J. M. Targeted expression of MYCN causes neuroblastoma in transgenic mice. EMBO J. 16, 2985–2995 (1997)
  Article CAS Google Scholar
• Osajima-Hakomori, Y. et al. Biological role of anaplastic lymphoma kinase in neuroblastoma. Am. J. Pathol. 167, 213–222 (2005)
  Article CAS Google Scholar
• George, R. E. et al. Genome-wide analysis of neuroblastomas using high-density single nucleotide polymorphism arrays. PLoS ONE 2, e255 (2007)
  Article ADS Google Scholar
• Morris, S. W. et al. Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin’s lymphoma. Science 263, 1281–1284 (1994)
  Article ADS CAS Google Scholar
• Griffin, C. A. et al. Recurrent involvement of 2p23 in inflammatory myofibroblastic tumors. Cancer Res. 59, 2776–2780 (1999)
  CAS PubMed Google Scholar
• Jazii, F. R. et al. Identification of squamous cell carcinoma associated proteins by proteomics and loss of beta tropomyosin expression in esophageal cancer. World J. Gastroenterol. 12, 7104–7112 (2006)
  Article CAS Google Scholar
• Soda, M. et al. Identification of the transforming EML4_–_ALK fusion gene in non-small-cell lung cancer. Nature 448, 561–566 (2007)
  Article ADS CAS Google Scholar
• Rikova, K. et al. Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell 131, 1190–1203 (2007)
  Article CAS Google Scholar
• Torkamani, A. & Schork, N. J. Accurate prediction of deleterious protein kinase polymorphisms. Bioinformatics 23, 2918–2925 (2007)
  Article CAS Google Scholar
• Torkamani, A. & Schork, N. J. Prediction of cancer driver mutations in protein kinases. Cancer Res. 68, 1675–1682 (2008)
  Article CAS Google Scholar
• Ikenoue, T. et al. Functional analysis of mutations within the kinase activation segment of B-Raf in human colorectal tumors. Cancer Res. 63, 8132–8137 (2003)
  CAS PubMed Google Scholar
• Ikenoue, T. et al. Different effects of point mutations within the B-Raf glycine-rich loop in colorectal tumors on mitogen-activated protein/extracellular signal-regulated kinase kinase/extracellular signal-regulated kinase and nuclear factor κB pathway and cellular transformation. Cancer Res. 64, 3428–3435 (2004)
  Article CAS Google Scholar
• Kannan, N. & Neuwald, A. F. Did protein kinase regulatory mechanisms evolve through elaboration of a simple structural component? J. Mol. Biol. 351, 956–972 (2005)
  Article CAS Google Scholar
• Jeffers, M. et al. Activating mutations for the met tyrosine kinase receptor in human cancer. Proc. Natl Acad. Sci. USA 94, 11445–11450 (1997)
  Article ADS CAS Google Scholar
• Balak, M. N. et al. Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor-mutant lung adenocarcinomas with acquired resistance to kinase inhibitors. Clin. Cancer Res. 12, 6494–6501 (2006)
  Article CAS Google Scholar
• Lee, J. W. et al. ERBB2 kinase domain mutation in the lung squamous cell carcinoma. Cancer Lett. 237, 89–94 (2006)
  Article CAS Google Scholar
• Lee, J. W. et al. Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas. Clin. Cancer Res. 12, 57–61 (2006)
  Article CAS Google Scholar
• Wang, Q. et al. Integrative genomics identifies distinct molecular classes of neuroblastoma and shows that multiple genes are targeted by regional alterations in DNA copy number. Cancer Res. 66, 6050–6062 (2006)
  Article CAS Google Scholar
• Vogelstein, B. & Kinzler, K. W. Cancer genes and the pathways they control. Nature Med. 10, 789–799 (2004)
  Article CAS Google Scholar
• Maris, J. M. et al. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N. Engl. J. Med. 358, 2585–2593 (2008)
  Article CAS Google Scholar
• Iwahara, T. et al. Molecular characterization of ALK, a receptor tyrosine kinase expressed specifically in the nervous system. Oncogene 14, 439–449 (1997)
  Article CAS Google Scholar
• Chiarle, R., Voena, C., Ambrogio, C., Piva, R. & Inghirami, G. The anaplastic lymphoma kinase in the pathogenesis of cancer. Nature Rev. Cancer 8, 11–23 (2008)
  Article CAS Google Scholar
• Lamant, L. et al. Expression of the ALK tyrosine kinase gene in neuroblastoma. Am. J. Pathol. 156, 1711–1721 (2000)
  Article CAS Google Scholar
• Motegi, A., Fujimoto, J., Kotani, M., Sakuraba, H. & Yamamoto, T. ALK receptor tyrosine kinase promotes cell growth and neurite outgrowth. J. Cell Sci. 117, 3319–3329 (2004)
  Article CAS Google Scholar
• Miyake, I. et al. Activation of anaplastic lymphoma kinase is responsible for hyperphosphorylation of ShcC in neuroblastoma cell lines. Oncogene 21, 5823–5834 (2002)
  Article CAS Google Scholar
• Dirks, W. G. et al. Expression and functional analysis of the anaplastic lymphoma kinase (ALK) gene in tumor cell lines. Int. J. Cancer 100, 49–56 (2002)
  Article CAS Google Scholar
• McDermott, U. et al. Genomic alterations of anaplastic lymphoma kinase may sensitize tumors to anaplastic lymphoma kinase inhibitors. Cancer Res. 68, 3389–3395 (2008)
  Article CAS Google Scholar
• Wigginton, J. E. & Abecasis, G. R. PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 21, 3445–3447 (2005)
  Article CAS Google Scholar
• Abecasis, G. R., Cherny, S. S., Cookson, W. O. & Cardon, L. R. Merlin–rapid analysis of dense genetic maps using sparse gene flow trees. Nature Genet. 30, 97–101 (2002)
  Article CAS Google Scholar
• Li, M., Boehnke, M. & Abecasis, G. R. Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal. Am. J. Hum. Genet. 76, 934–949 (2005)
  Article CAS Google Scholar
• Yu, N. et al. Real-time monitoring of morphological changes in living cells by electronic cell sensor arrays: an approach to study G protein-coupled receptors. Anal. Chem. 78, 35–43 (2006)
  Article CAS Google Scholar
• Cole, K. A. et al. A functional screen identifies miR-34a as a candidate neuroblastoma tumor suppressor gene. Mol. Cancer Res. 6, 735–742 (2008)
  Article CAS Google Scholar
• Livak, K. J. & Schmittgen, T. D. Analysis of relative gene expression data using real-time quantitative PCR and the 2-ΔΔ_C_ T method. Methods 25, 402–408 (2001)
  Article CAS Google Scholar