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000128696 1001_ $$0P:(DE-He78)e33bb25d8c2a056ddfc1621563fc5c70$$aRatnaparkhe, Manasi$$b0$$eFirst author$$udkfz
000128696 245__ $$aGenomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis.
000128696 260__ $$aBasingstoke$$bNature Publ. Group$$c2017
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000128696 520__ $$aRecent developments in sequencing technologies led to the discovery of a novel form of genomic instability, termed chromothripsis. This catastrophic genomic event, involved in tumorigenesis, is characterized by tens to hundreds of simultaneously acquired locally clustered rearrangements on one chromosome. We hypothesized that leukemias developing in individuals with Ataxia Telangiectasia, who are born with two mutated copies of the ATM gene, an essential guardian of genome stability, would show a higher prevalence of chromothripsis due to the associated defect in DNA double-strand break repair. Using whole-genome sequencing, fluorescence in situ hybridization and RNA sequencing, we characterized the genomic landscape of Acute Lymphoblastic Leukemia (ALL) arising in patients with Ataxia Telangiectasia. We detected a high frequency of chromothriptic events in these tumors, specifically on acrocentric chromosomes, as compared with tumors from individuals with other types of DNA repair syndromes (27 cases total, 10 with Ataxia Telangiectasia). Our data suggest that the genomic landscape of Ataxia Telangiectasia ALL is clearly distinct from that of sporadic ALL. Mechanistically, short telomeres and compromised DNA damage response in cells of Ataxia Telangiectasia patients may be linked with frequent chromothripsis. Furthermore, we show that ATM loss is associated with increased chromothripsis prevalence in additional tumor entities.
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000128696 7001_ $$aJauch, A.$$b3
000128696 7001_ $$0P:(DE-He78)5100059e746b377e2e0a37c0e24f6bf7$$aMaass, Kendra$$b4$$udkfz
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000128696 7001_ $$aPastorczak, A.$$b9
000128696 7001_ $$aMlynarski, W.$$b10
000128696 7001_ $$aSungalee, S.$$b11
000128696 7001_ $$aKorbel, J.$$b12
000128696 7001_ $$aHoell, J.$$b13
000128696 7001_ $$aFischer, U.$$b14
000128696 7001_ $$0P:(DE-He78)0be2f86573954f87e97f8a4dbb05cb0f$$aMilde, T.$$b15$$udkfz
000128696 7001_ $$aKramm, C.$$b16
000128696 7001_ $$aNathrath, M.$$b17
000128696 7001_ $$aChrzanowska, K.$$b18
000128696 7001_ $$aTausch, E.$$b19
000128696 7001_ $$00000-0002-7580-9184$$aTakagi, M.$$b20
000128696 7001_ $$aTaga, T.$$b21
000128696 7001_ $$aConstantini, S.$$b22
000128696 7001_ $$aLoeffen, J.$$b23
000128696 7001_ $$aMeijerink, J.$$b24
000128696 7001_ $$aZielen, S.$$b25
000128696 7001_ $$aGohring, G.$$b26
000128696 7001_ $$aSchlegelberger, B.$$b27
000128696 7001_ $$aMaass, E.$$b28
000128696 7001_ $$aSiebert, R.$$b29
000128696 7001_ $$aKunz, J.$$b30
000128696 7001_ $$aKulozik, A. E.$$b31
000128696 7001_ $$0P:(DE-He78)fae1bf941c5fd76cf5356ecfa1243cc4$$aWorst, B.$$b32$$udkfz
000128696 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b33$$udkfz
000128696 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b34$$udkfz
000128696 7001_ $$00000-0001-8287-5967$$aZapatka, M.$$b35
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000128696 7001_ $$0P:(DE-He78)509fb81813c1911954da583129e8ea57$$aErnst, Aurélie$$b37$$eLast author$$udkfz
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