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Items: 1 to 20 of 86

1.

RAF gene fusion breakpoints in pediatric brain tumors are characterized by significant enrichment of sequence microhomology.

Lawson AR, Hindley GF, Forshew T, Tatevossian RG, Jamie GA, Kelly GP, Neale GA, Ma J, Jones TA, Ellison DW, Sheer D.

Genome Res. 2011 Apr;21(4):505-14. doi: 10.1101/gr.115782.110. Epub 2011 Mar 10.

2.

MAPK pathway activation and the origins of pediatric low-grade astrocytomas.

Tatevossian RG, Lawson AR, Forshew T, Hindley GF, Ellison DW, Sheer D.

J Cell Physiol. 2010 Mar;222(3):509-14. doi: 10.1002/jcp.21978. Review.

PMID:
19937730
3.

Analysis of a breakpoint cluster reveals insight into the mechanism of intrachromosomal amplification in a lymphoid malignancy.

Sinclair PB, Parker H, An Q, Rand V, Ensor H, Harrison CJ, Strefford JC.

Hum Mol Genet. 2011 Jul 1;20(13):2591-602. doi: 10.1093/hmg/ddr159. Epub 2011 Apr 12.

PMID:
21487021
4.

BRAF alterations in primary glial and glioneuronal neoplasms of the central nervous system with identification of 2 novel KIAA1549:BRAF fusion variants.

Lin A, Rodriguez FJ, Karajannis MA, Williams SC, Legault G, Zagzag D, Burger PC, Allen JC, Eberhart CG, Bar EE.

J Neuropathol Exp Neurol. 2012 Jan;71(1):66-72. doi: 10.1097/NEN.0b013e31823f2cb0.

5.

Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma.

Cin H, Meyer C, Herr R, Janzarik WG, Lambert S, Jones DT, Jacob K, Benner A, Witt H, Remke M, Bender S, Falkenstein F, Van Anh TN, Olbrich H, von Deimling A, Pekrun A, Kulozik AE, Gnekow A, Scheurlen W, Witt O, Omran H, Jabado N, Collins VP, Brummer T, Marschalek R, Lichter P, Korshunov A, Pfister SM.

Acta Neuropathol. 2011 Jun;121(6):763-74. doi: 10.1007/s00401-011-0817-z. Epub 2011 Mar 20.

PMID:
21424530
6.

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.

Koumbaris G, Hatzisevastou-Loukidou H, Alexandrou A, Ioannides M, Christodoulou C, Fitzgerald T, Rajan D, Clayton S, Kitsiou-Tzeli S, Vermeesch JR, Skordis N, Antoniou P, Kurg A, Georgiou I, Carter NP, Patsalis PC.

Hum Mol Genet. 2011 May 15;20(10):1925-36. doi: 10.1093/hmg/ddr074. Epub 2011 Feb 24.

7.

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR.

Nat Genet. 2009 Jul;41(7):849-53. doi: 10.1038/ng.399. Epub 2009 Jun 21.

8.

Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene.

Sievert AJ, Jackson EM, Gai X, Hakonarson H, Judkins AR, Resnick AC, Sutton LN, Storm PB, Shaikh TH, Biegel JA.

Brain Pathol. 2009 Jul;19(3):449-58. doi: 10.1111/j.1750-3639.2008.00225.x. Epub 2008 Oct 21. Erratum in: Brain Pathol. 2009 Jul;19(3):550.

9.

Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.

Newman S, Hermetz KE, Weckselblatt B, Rudd MK.

Am J Hum Genet. 2015 Feb 5;96(2):208-20. doi: 10.1016/j.ajhg.2014.12.017. Epub 2015 Jan 29.

10.

Molecular characterization of disseminated pilocytic astrocytomas.

Gessi M, Engels AC, Lambert S, Rothämel T, von Hornstein S, Collins VP, Denkhaus D, Gnekow A, Pietsch T.

Neuropathol Appl Neurobiol. 2016 Apr;42(3):273-8. doi: 10.1111/nan.12256. Epub 2015 Jul 20.

PMID:
26084390
11.

Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene.

Hsiao MC, Piotrowski A, Alexander J, Callens T, Fu C, Mikhail FM, Claes KB, Messiaen L.

Hum Mutat. 2014 Jul;35(7):891-8. doi: 10.1002/humu.22569. Epub 2014 May 21.

PMID:
24760680
12.

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P.

Hum Mol Genet. 2009 Oct 1;18(19):3579-93. doi: 10.1093/hmg/ddp306. Epub 2009 Jul 3.

PMID:
19578123
13.

Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas.

Jones DT, Kocialkowski S, Liu L, Pearson DM, Bäcklund LM, Ichimura K, Collins VP.

Cancer Res. 2008 Nov 1;68(21):8673-7. doi: 10.1158/0008-5472.CAN-08-2097.

14.

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.

Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG, Krantz ID, Deardorff MA, Lupski JR.

Genet Med. 2012 Mar;14(3):313-22. doi: 10.1038/gim.2011.13. Epub 2012 Jan 5.

15.

Oncogenic BRAF mutation with CDKN2A inactivation is characteristic of a subset of pediatric malignant astrocytomas.

Schiffman JD, Hodgson JG, VandenBerg SR, Flaherty P, Polley MY, Yu M, Fisher PG, Rowitch DH, Ford JM, Berger MS, Ji H, Gutmann DH, James CD.

Cancer Res. 2010 Jan 15;70(2):512-9. doi: 10.1158/0008-5472.CAN-09-1851. Epub 2010 Jan 12.

16.

Breakpoint features of genomic rearrangements in neuroblastoma with unbalanced translocations and chromothripsis.

Boeva V, Jouannet S, Daveau R, Combaret V, Pierre-Eugène C, Cazes A, Louis-Brennetot C, Schleiermacher G, Ferrand S, Pierron G, Lermine A, Rio Frio T, Raynal V, Vassal G, Barillot E, Delattre O, Janoueix-Lerosey I.

PLoS One. 2013 Aug 26;8(8):e72182. doi: 10.1371/journal.pone.0072182. eCollection 2013.

17.

Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms.

Malhotra A, Lindberg M, Faust GG, Leibowitz ML, Clark RA, Layer RM, Quinlan AR, Hall IM.

Genome Res. 2013 May;23(5):762-76. doi: 10.1101/gr.143677.112. Epub 2013 Feb 14.

18.

Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.

Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, Fukami M.

Cytogenet Genome Res. 2017;151(1):1-4. doi: 10.1159/000458469. Epub 2017 Mar 3.

19.

Detection of KIAA1549-BRAF fusion transcripts in formalin-fixed paraffin-embedded pediatric low-grade gliomas.

Tian Y, Rich BE, Vena N, Craig JM, Macconaill LE, Rajaram V, Goldman S, Taha H, Mahmoud M, Ozek M, Sav A, Longtine JA, Lindeman NI, Garraway LA, Ligon AH, Stiles CD, Santagata S, Chan JA, Kieran MW, Ligon KL.

J Mol Diagn. 2011 Nov;13(6):669-77. doi: 10.1016/j.jmoldx.2011.07.002. Epub 2011 Aug 30.

20.

Molecular analysis of pediatric brain tumors identifies microRNAs in pilocytic astrocytomas that target the MAPK and NF-κB pathways.

Jones TA, Jeyapalan JN, Forshew T, Tatevossian RG, Lawson AR, Patel SN, Doctor GT, Mumin MA, Picker SR, Phipps KP, Michalski A, Jacques TS, Sheer D.

Acta Neuropathol Commun. 2015 Dec 18;3:86. doi: 10.1186/s40478-015-0266-3.

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