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• W570355169 abstract "The thesis describes the molecular genetic analysis of fifty low-grade paediatricastrocytomas. DNA copy number changes were investigated in paediatric low-gradeastrocytomas (WHO grade I and II), using array comparative genomic hybridisation andAffymetrix 250K and 6.0 SNP arrays. A discrete region of DNA copy number gain wasidentified at chromosome 7q34, primarily although not exclusively in pilocyticastrocytomas of the cerebellum. Further analysis of this region, by PCR and sequencing,demonstrated the presence of gene fusions between KIAA1549 and BRAF. Five KIAA1549-BRAF fusion variants were subsequently identified. A further gene fusion betweenSRGAP3 and RAF1 was also found in a single tumour with DNA copy number gain atchromosome 3p25. The fusion genes lacked the auto-inhibitory domains of BRAF andRAF1. These were replaced in-frame by N-terminal segments of KIAA1549 and SRGAP3,respectively, conferring constitutive kinase activity.Sequencing confirmed the presence of activating mutations in KRAS and BRAF in threetumours where gene fusions were not identified. Both gene fusions and activatingmutations were shown to cause activation of the ERK/MAP kinase pathway by Westernblotting. Further sequencing was performed of CDKN2A, PTEN and IDH1/2 to assess thefrequency of abnormalities in paediatric low-grade astrocytoma. These genes havepreviously been found to contain aberrations within adult high-grade astrocytomas. Todate, no significant aberrations have been identified in the paediatric astrocytoma samplesexamined. This confirms previous findings in adult and paediatric astrocytomas, whichappear to show distinct molecular changes depending on patient age.Gene fusions or activating mutations were identified in 100% pilocytic astrocytomasstudied and were also found in 28% of grade II astrocytomas. These findings highlight theimportance of the ERK/MAPK pathway both in the development of paediatric low-gradeastrocytomas and as a possible therapeutic target. Gene fusions may provide a means ofmolecular classification for pilocytic astrocytomas in the future." @default.
• W570355169 created "2016-06-24" @default.
• W570355169 creator A5072105991 @default.
• W570355169 date "2010-03-28" @default.
• W570355169 modified "2023-09-26" @default.
• W570355169 title "Molecular genetic analysis of paediatric low-grade astrocytoma" @default.
• W570355169 cites W1481143593 @default.
• W570355169 cites W1484187172 @default.
• W570355169 cites W1512173429 @default.
• W570355169 cites W1517480469 @default.
• W570355169 cites W1527684295 @default.
• W570355169 cites W1533555842 @default.
• W570355169 cites W1539103037 @default.
• W570355169 cites W1542836032 @default.
• W570355169 cites W1544851750 @default.
• W570355169 cites W15453418 @default.
• W570355169 cites W1558421206 @default.
• W570355169 cites W1576600078 @default.
• W570355169 cites W1583265575 @default.
• W570355169 cites W1585241254 @default.
• W570355169 cites W1585340447 @default.
• W570355169 cites W1588935895 @default.
• W570355169 cites W1590265921 @default.
• W570355169 cites W1596185088 @default.
• W570355169 cites W1602172318 @default.
• W570355169 cites W1606273823 @default.
• W570355169 cites W1658127082 @default.
• W570355169 cites W1662062786 @default.
• W570355169 cites W1741394036 @default.
• W570355169 cites W174701048 @default.
• W570355169 cites W1835750525 @default.
• W570355169 cites W1838683774 @default.
• W570355169 cites W190349027 @default.
• W570355169 cites W1908619062 @default.
• W570355169 cites W1941384590 @default.
• W570355169 cites W1963514792 @default.
• W570355169 cites W1964571709 @default.
• W570355169 cites W1964644808 @default.
• W570355169 cites W1965262464 @default.
• W570355169 cites W1965531809 @default.
• W570355169 cites W1966586745 @default.
• W570355169 cites W1967007963 @default.
• W570355169 cites W1967354499 @default.
• W570355169 cites W1967544628 @default.
• W570355169 cites W1967892265 @default.
• W570355169 cites W1968002146 @default.
• W570355169 cites W1968046362 @default.
• W570355169 cites W1968075576 @default.
• W570355169 cites W1968553547 @default.
• W570355169 cites W1969441567 @default.
• W570355169 cites W197014098 @default.
• W570355169 cites W1970761420 @default.
• W570355169 cites W1970980262 @default.
• W570355169 cites W1971474320 @default.
• W570355169 cites W1971721584 @default.
• W570355169 cites W1971837077 @default.
• W570355169 cites W1972066468 @default.
• W570355169 cites W1973155317 @default.
• W570355169 cites W1973234860 @default.
• W570355169 cites W1974091059 @default.
• W570355169 cites W1974265019 @default.
• W570355169 cites W1974747095 @default.
• W570355169 cites W1975430279 @default.
• W570355169 cites W1977267072 @default.
• W570355169 cites W1980052766 @default.
• W570355169 cites W1980481067 @default.
• W570355169 cites W1982706153 @default.
• W570355169 cites W1982787794 @default.
• W570355169 cites W1983493537 @default.
• W570355169 cites W1986000110 @default.
• W570355169 cites W1987977319 @default.
• W570355169 cites W1988257925 @default.
• W570355169 cites W1988676851 @default.
• W570355169 cites W1989068609 @default.
• W570355169 cites W1989215764 @default.
• W570355169 cites W1989856647 @default.
• W570355169 cites W1989958716 @default.
• W570355169 cites W1990085600 @default.
• W570355169 cites W1991154912 @default.
• W570355169 cites W1991254948 @default.
• W570355169 cites W1991494214 @default.
• W570355169 cites W1991691204 @default.
• W570355169 cites W1991859510 @default.
• W570355169 cites W1992833797 @default.
• W570355169 cites W1993516105 @default.
• W570355169 cites W1993813075 @default.
• W570355169 cites W1994219871 @default.
• W570355169 cites W1994276113 @default.
• W570355169 cites W1994292200 @default.
• W570355169 cites W1994678797 @default.
• W570355169 cites W1995338672 @default.
• W570355169 cites W1995607634 @default.
• W570355169 cites W1995611949 @default.
• W570355169 cites W1995643652 @default.
• W570355169 cites W1995985041 @default.
• W570355169 cites W1996729627 @default.
• W570355169 cites W1998517881 @default.
• W570355169 cites W1998593414 @default.
• W570355169 cites W1998743924 @default.
• W570355169 cites W1998823290 @default.

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