1
|
<oaf:entity xmlns:oaf="http://namespace.openaire.eu/oaf"
|
2
|
xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"
|
3
|
xsi:schemaLocation="http://namespace.openaire.eu/oaf ../oaf-0.3.xsd">
|
4
|
<oaf:result>
|
5
|
<subject classid="keyword" classname="keyword" schemeid="dnet:result_subject"
|
6
|
schemename="dnet:result_subject">Article</subject>
|
7
|
<title classid="main title" classname="main title" schemeid="dnet:dataCite_title"
|
8
|
schemename="dnet:dataCite_title">Constitutional and somatic rearrangement of chromosome
|
9
|
21 in acute lymphoblastic leukaemia</title>
|
10
|
<dateofacceptance>2014-03-23</dateofacceptance>
|
11
|
<resulttype classid="publication" classname="publication" schemeid="dnet:result_typologies"
|
12
|
schemename="dnet:result_typologies"/>
|
13
|
<language classid="eng" classname="English" schemeid="dnet:languages"
|
14
|
schemename="dnet:languages"/>
|
15
|
<journal issn="0028-0836" eissn="1476-4687" lissn="">Nature</journal>
|
16
|
<description>Changes in gene dosage are a major driver of cancer, engineered from a finite, but increasingly well annotated, repertoire of mutational mechanisms1. This can potentially generate correlated copy number alterations across hundreds of linked genes, as exemplified by the 2% of childhood acute lymphoblastic leukemia (ALL) with recurrent amplification of megabase regions of chromosome 21 (iAMP21)2,3. We used genomic, cytogenetic and transcriptional analysis, coupled with novel bioinformatic approaches, to reconstruct the evolution of iAMP21 ALL. We find that individuals born with the rare constitutional Robertsonian translocation between chromosomes 15 and 21, rob(15;21)(q10;q10)c, have ~2700-fold increased risk of developing iAMP21 ALL compared to the general population. In such cases, amplification is initiated by a chromothripsis event involving both sister chromatids of the Robertsonian chromosome, a novel mechanism for cancer predisposition. In sporadic iAMP21, breakage-fusion-bridge cycles are typically the initiating event, often followed by chromothripsis. In both sporadic and rob(15;21)c-associated iAMP21, the final stages frequently involve duplications of the entire abnormal chromosome. The end-product is a derivative of chromosome 21 or the rob(15;21)c chromosome with gene dosage optimised for leukemic potential, showing constrained copy number levels over multiple linked genes. Thus, dicentric chromosomes may be an important precipitant of chromothripsis, as we show rob(15;21)c to be constitutionally dicentric and breakage-fusion-bridge cycles generate dicentric chromosomes somatically. Furthermore, our data illustrate that several cancer-specific mutational processes, applied sequentially, can co-ordinate to fashion copy number profiles over large genomic scales, incrementally refining the fitness benefits of aggregated gene dosage changes.</description>
|
17
|
<country classid="" classname="" schemeid="" schemename=""/>
|
18
|
<relevantdate classid="" classname="" schemeid="" schemename=""/>
|
19
|
<publisher/>
|
20
|
<embargoenddate/>
|
21
|
<source/>
|
22
|
<fulltext/>
|
23
|
<format/>
|
24
|
<storagedate/>
|
25
|
<resourcetype classid="" classname="" schemeid="" schemename=""/>
|
26
|
<device/>
|
27
|
<size/>
|
28
|
<version/>
|
29
|
<lastmetadataupdate/>
|
30
|
<metadataversionnumber/>
|
31
|
<originalId>210568</originalId>
|
32
|
<originalId>oai:europepmc.org:3153735</originalId>
|
33
|
<collectedfrom name="European Research Council (ERC)"
|
34
|
id="openaire____::5ecaf0d3af3004219bc6b5907d19b6d9"/>
|
35
|
<collectedfrom name="Europe PubMed Central"
|
36
|
id="opendoar____::8b6dd7db9af49e67306feb59a8bdc52c"/>
|
37
|
<pid classid="doi" classname="doi" schemeid="dnet:pid_types" schemename="dnet:pid_types"
|
38
|
>10.1038/nature13115</pid>
|
39
|
<pid classid="pmid" classname="pmid" schemeid="dnet:pid_types" schemename="dnet:pid_types"
|
40
|
>24670643</pid>
|
41
|
<pid classid="oai" classname="oai" schemeid="dnet:pid_types" schemename="dnet:pid_types"
|
42
|
>210568</pid>
|
43
|
<pid classid="pmc" classname="pmc" schemeid="dnet:pid_types" schemename="dnet:pid_types"
|
44
|
>PMC3976272</pid>
|
45
|
<pid classid="oai" classname="oai" schemeid="dnet:pid_types" schemename="dnet:pid_types"
|
46
|
>oai:europepmc.org:3153735</pid>
|
47
|
<bestlicense classid="OPEN" classname="Open Access" schemeid="dnet:access_modes"
|
48
|
schemename="dnet:access_modes"/>
|
49
|
<context id="WT" label="Wellcome Trust" type="funding">
|
50
|
<category id="WT::UNKNOWN" label="UNKNOWN"/>
|
51
|
<category id="WT::Molecules, Genes and Cells" label="Molecules, Genes and Cells"/>
|
52
|
</context>
|
53
|
<context id="EC" label="European Commission" type="funding">
|
54
|
<category id="EC::FP7" label="SEVENTH FRAMEWORK PROGRAMME">
|
55
|
<concept id="EC::FP7::SP2" label="SP2-Ideas"/>
|
56
|
<concept id="EC::FP7::SP2::ERC" label="ERC"/>
|
57
|
</category>
|
58
|
</context>
|
59
|
<datainfo>
|
60
|
<inferred>true</inferred>
|
61
|
<deletedbyinference>false</deletedbyinference>
|
62
|
<trust>0.9</trust>
|
63
|
<inferenceprovenance>dedup-similarity-result</inferenceprovenance>
|
64
|
<provenanceaction classid="sysimport:dedup" classname="sysimport:dedup"
|
65
|
schemeid="dnet:provenanceActions" schemename="dnet:provenanceActions"/>
|
66
|
</datainfo>
|
67
|
<rels>
|
68
|
<rel inferred="true" trust="0.897"
|
69
|
inferenceprovenance="iis::document_referencedProjects" provenanceaction="iis">
|
70
|
<to class="isProducedBy" scheme="dnet:result_project_relations" type="project">wt__________::cdb54a3a00bf24cce3dc7d53722a4ce6</to>
|
71
|
<code>077012</code>
|
72
|
<title>Cancer Genome Project</title>
|
73
|
<contracttype classid="UNKNOWN" classname="UNKNOWN" schemeid="wt:contractTypes"
|
74
|
schemename="wt:contractTypes"/>
|
75
|
<funding>
|
76
|
<funder id="wt__________::WT" shortname="WT" name="Wellcome Trust"
|
77
|
jurisdiction=""/>
|
78
|
<funding_level_0 name="UNKNOWN">wt__________::WT::UNKNOWN</funding_level_0>
|
79
|
</funding>
|
80
|
<funding>
|
81
|
<funder id="wt__________::WT" shortname="WT" name="Wellcome Trust"
|
82
|
jurisdiction=""/>
|
83
|
<funding_level_0 name="Molecules, Genes and Cells">wt__________::WT::Molecules, Genes and Cells</funding_level_0>
|
84
|
</funding>
|
85
|
</rel>
|
86
|
<rel inferred="true" trust="0.8836"
|
87
|
inferenceprovenance="iis::document_referencedProjects" provenanceaction="iis">
|
88
|
<to class="isProducedBy" scheme="dnet:result_project_relations" type="project">wt__________::c5c49de54218242c1abdaa7e2afe890b</to>
|
89
|
<code>088340</code>
|
90
|
<title>CHARACTERISATION AND ANALYSIS OF CANCER GENOMES USING NEXT GENERATION
|
91
|
SEQUENCING TECHNOLOGIES.</title>
|
92
|
<contracttype classid="UNKNOWN" classname="UNKNOWN" schemeid="wt:contractTypes"
|
93
|
schemename="wt:contractTypes"/>
|
94
|
<funding>
|
95
|
<funder id="wt__________::WT" shortname="WT" name="Wellcome Trust"
|
96
|
jurisdiction=""/>
|
97
|
<funding_level_0 name="Molecules, Genes and Cells">wt__________::WT::Molecules, Genes and Cells</funding_level_0>
|
98
|
</funding>
|
99
|
</rel>
|
100
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
101
|
provenanceaction="sysimport:crosswalk:repository">
|
102
|
<to class="isProducedBy" scheme="dnet:result_project_relations" type="project">corda_______::f4cca6d55dd5c6dc316c6ac52501a64f</to>
|
103
|
<code>249891</code>
|
104
|
<acronym>ONCOGENOMICS</acronym>
|
105
|
<title>Development of high throughput in vivo oncogenomic screening strategies in
|
106
|
acute leukaemia</title>
|
107
|
<contracttype classid="ERC" classname="Support for frontier research (ERC)"
|
108
|
schemeid="ec:FP7contractTypes" schemename="ec:FP7contractTypes"/>
|
109
|
<funding>
|
110
|
<funder id="ec__________::EC" shortname="EC" name="European Commission"
|
111
|
jurisdiction="EU"/>
|
112
|
<funding_level_0 name="FP7">ec__________::EC::FP7</funding_level_0>
|
113
|
<funding_level_1 name="SP2">ec__________::EC::FP7::SP2</funding_level_1>
|
114
|
<funding_level_2 name="ERC">ec__________::EC::FP7::SP2::ERC</funding_level_2>
|
115
|
</funding>
|
116
|
</rel>
|
117
|
<rel inferred="true" trust="0.9"
|
118
|
inferenceprovenance="iis::document_similarities_standard" provenanceaction="iis">
|
119
|
<to class="isAmongTopNSimilarDocuments" scheme="dnet:result_result_relations" type="result">od_______908::7a7e07e14b4bdef3c9abc3e6b6a5c7ef</to>
|
120
|
<similarity>0.8009093</similarity>
|
121
|
<type>STANDARD</type>
|
122
|
<title classid="main title" classname="main title" schemeid="dnet:dataCite_title"
|
123
|
schemename="dnet:dataCite_title">An international study of intrachromosomal
|
124
|
amplification of chromosome 21 (iAMP21): cytogenetic characterization and
|
125
|
outcome</title>
|
126
|
<dateofacceptance>2013-10-29</dateofacceptance>
|
127
|
<resulttype classid="publication" classname="publication"
|
128
|
schemeid="dnet:result_typologies" schemename="dnet:result_typologies"/>
|
129
|
</rel>
|
130
|
<rel inferred="true" trust="0.9"
|
131
|
inferenceprovenance="iis::document_similarities_standard" provenanceaction="iis">
|
132
|
<to class="hasAmongTopNSimilarDocuments" scheme="dnet:result_result_relations" type="result">od_______908::7a7e07e14b4bdef3c9abc3e6b6a5c7ef</to>
|
133
|
<similarity>0.8009093</similarity>
|
134
|
<type>STANDARD</type>
|
135
|
<title classid="main title" classname="main title" schemeid="dnet:dataCite_title"
|
136
|
schemename="dnet:dataCite_title">An international study of intrachromosomal
|
137
|
amplification of chromosome 21 (iAMP21): cytogenetic characterization and
|
138
|
outcome</title>
|
139
|
<dateofacceptance>2013-10-29</dateofacceptance>
|
140
|
<resulttype classid="publication" classname="publication"
|
141
|
schemeid="dnet:result_typologies" schemename="dnet:result_typologies"/>
|
142
|
</rel>
|
143
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
144
|
provenanceaction="sysimport:crosswalk:repository">
|
145
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::5e8b9acbcb609a6bb7e1537a97a3568c</to>
|
146
|
<ranking>23</ranking>
|
147
|
<fullname>OliviaJoseph</fullname>
|
148
|
</rel>
|
149
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
150
|
provenanceaction="sysimport:crosswalk:repository">
|
151
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::eb4f41b6b769933942908e15a3080b4d</to>
|
152
|
<ranking>27</ranking>
|
153
|
<fullname>PeterVandenberghe</fullname>
|
154
|
</rel>
|
155
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
156
|
provenanceaction="sysimport:crosswalk:repository">
|
157
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::69cf9b1266dadfbcb99b6322217d127e</to>
|
158
|
<ranking>4</ranking>
|
159
|
<fullname>ElliPapaemmanuil</fullname>
|
160
|
</rel>
|
161
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
162
|
provenanceaction="sysimport:crosswalk:repository">
|
163
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::a3e526cf842ce6b18aae6ea0033e585d</to>
|
164
|
<ranking>3</ranking>
|
165
|
<fullname>SarraL.Ryan</fullname>
|
166
|
</rel>
|
167
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
168
|
provenanceaction="sysimport:crosswalk:repository">
|
169
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::7f22ed42caa8da8b7b448930873b5f79</to>
|
170
|
<ranking>16</ranking>
|
171
|
<fullname>FionaM.Ross</fullname>
|
172
|
</rel>
|
173
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
174
|
provenanceaction="sysimport:crosswalk:repository">
|
175
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::66d45e410cbd1e0c8aa384c1e0e27bea</to>
|
176
|
<ranking>2</ranking>
|
177
|
<fullname>ClaireSchwab</fullname>
|
178
|
</rel>
|
179
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
180
|
provenanceaction="sysimport:crosswalk:repository">
|
181
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::d3252f299807d524c5babdbddfd51377</to>
|
182
|
<ranking>9</ranking>
|
183
|
<fullname>JulianBorrow</fullname>
|
184
|
</rel>
|
185
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
186
|
provenanceaction="sysimport:crosswalk:repository">
|
187
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::af977d7d7b41a52177a720a26d3073e8</to>
|
188
|
<ranking>15</ranking>
|
189
|
<fullname>NickTelford</fullname>
|
190
|
</rel>
|
191
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
192
|
provenanceaction="sysimport:crosswalk:repository">
|
193
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::5dca4ebcf5226c1604603dd8f6805e3b</to>
|
194
|
<ranking>1</ranking>
|
195
|
<fullname>YilongLi</fullname>
|
196
|
</rel>
|
197
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
198
|
provenanceaction="sysimport:crosswalk:repository">
|
199
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::8db46ad4a193f4e0873120dfad2163f4</to>
|
200
|
<ranking>14</ranking>
|
201
|
<fullname>NickBown</fullname>
|
202
|
</rel>
|
203
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
204
|
provenanceaction="sysimport:crosswalk:repository">
|
205
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::8ce659ba51a8882d7689c1ae48e6bcb0</to>
|
206
|
<ranking>26</ranking>
|
207
|
<fullname>NicoleDastugue</fullname>
|
208
|
</rel>
|
209
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
210
|
provenanceaction="sysimport:crosswalk:repository">
|
211
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::f8e6e9a463c18780899e4463e6061521</to>
|
212
|
<ranking>22</ranking>
|
213
|
<fullname>ManuelR.Teixeira</fullname>
|
214
|
</rel>
|
215
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
216
|
provenanceaction="sysimport:crosswalk:repository">
|
217
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::ef8cf90ebd7b17d5f23a8520beb287e6</to>
|
218
|
<ranking>32</ranking>
|
219
|
<fullname>MichaelR.Stratton</fullname>
|
220
|
</rel>
|
221
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
222
|
provenanceaction="sysimport:crosswalk:repository">
|
223
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::d46272cccdba3f63f76b430754b89b22</to>
|
224
|
<ranking>30</ranking>
|
225
|
<fullname>JiqiuCheng</fullname>
|
226
|
</rel>
|
227
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
228
|
provenanceaction="sysimport:crosswalk:repository">
|
229
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::fdf1c6af78dcebc41ce69a0abda044da</to>
|
230
|
<ranking>7</ranking>
|
231
|
<fullname>AnthonyV.Moorman</fullname>
|
232
|
</rel>
|
233
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
234
|
provenanceaction="sysimport:crosswalk:repository">
|
235
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::f1b6ee2a07fcba85e3b685646c148ea6</to>
|
236
|
<ranking>11</ranking>
|
237
|
<fullname>NylaA.Heerema</fullname>
|
238
|
</rel>
|
239
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
240
|
provenanceaction="sysimport:crosswalk:repository">
|
241
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::a49d26bf862d07a048a27adccb0eeb78</to>
|
242
|
<ranking>24</ranking>
|
243
|
<fullname>BenRobinson</fullname>
|
244
|
</rel>
|
245
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
246
|
provenanceaction="sysimport:crosswalk:repository">
|
247
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::7ba24c1f91bc6ac79459e30545541656</to>
|
248
|
<ranking>33</ranking>
|
249
|
<fullname>PeterJ.Campbell</fullname>
|
250
|
</rel>
|
251
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
252
|
provenanceaction="sysimport:crosswalk:repository">
|
253
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::7352db75c52ffad74e015f23e30491fd</to>
|
254
|
<ranking>28</ranking>
|
255
|
<fullname>ClaudiaHaferlach</fullname>
|
256
|
</rel>
|
257
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
258
|
provenanceaction="sysimport:crosswalk:repository">
|
259
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::c296b5acc97a6c34e249cf9fc845bdc1</to>
|
260
|
<ranking>18</ranking>
|
261
|
<fullname>RichardJ.Q.McNally</fullname>
|
262
|
</rel>
|
263
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
264
|
provenanceaction="sysimport:crosswalk:repository">
|
265
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::d42a89d69c1ebb8de9c1bf9c7bfe2729</to>
|
266
|
<ranking>12</ranking>
|
267
|
<fullname>AndrewJ.Carroll</fullname>
|
268
|
</rel>
|
269
|
<rel inferred="true" trust="0.9"
|
270
|
inferenceprovenance="iis::document_similarities_standard" provenanceaction="iis">
|
271
|
<to class="isAmongTopNSimilarDocuments" scheme="dnet:result_result_relations" type="result">od_______908::48b5723469fdf9be63e8f05e1a2a9647</to>
|
272
|
<similarity>0.8041744</similarity>
|
273
|
<type>STANDARD</type>
|
274
|
<title classid="main title" classname="main title" schemeid="dnet:dataCite_title"
|
275
|
schemename="dnet:dataCite_title">Complex genomic alterations and gene expression
|
276
|
in acute lymphoblastic leukemia with intrachromosomal amplification of
|
277
|
chromosome 21</title>
|
278
|
<dateofacceptance>2006-05-15</dateofacceptance>
|
279
|
<publisher>National Academy of Sciences</publisher>
|
280
|
<resulttype classid="publication" classname="publication"
|
281
|
schemeid="dnet:result_typologies" schemename="dnet:result_typologies"/>
|
282
|
</rel>
|
283
|
<rel inferred="true" trust="0.9"
|
284
|
inferenceprovenance="iis::document_similarities_standard" provenanceaction="iis">
|
285
|
<to class="hasAmongTopNSimilarDocuments" scheme="dnet:result_result_relations" type="result">od_______908::48b5723469fdf9be63e8f05e1a2a9647</to>
|
286
|
<similarity>0.8041744</similarity>
|
287
|
<type>STANDARD</type>
|
288
|
<title classid="main title" classname="main title" schemeid="dnet:dataCite_title"
|
289
|
schemename="dnet:dataCite_title">Complex genomic alterations and gene expression
|
290
|
in acute lymphoblastic leukemia with intrachromosomal amplification of
|
291
|
chromosome 21</title>
|
292
|
<dateofacceptance>2006-05-15</dateofacceptance>
|
293
|
<publisher>National Academy of Sciences</publisher>
|
294
|
<resulttype classid="publication" classname="publication"
|
295
|
schemeid="dnet:result_typologies" schemename="dnet:result_typologies"/>
|
296
|
</rel>
|
297
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
298
|
provenanceaction="sysimport:crosswalk:repository">
|
299
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::45b27398b13bb301b113536b6fc69dea</to>
|
300
|
<ranking>19</ranking>
|
301
|
<fullname>BryanD.Young</fullname>
|
302
|
</rel>
|
303
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
304
|
provenanceaction="sysimport:crosswalk:repository">
|
305
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::0483ae67cca91e8557a9a20ecd0fd574</to>
|
306
|
<ranking>31</ranking>
|
307
|
<fullname>PeterVanLoo</fullname>
|
308
|
</rel>
|
309
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
310
|
provenanceaction="sysimport:crosswalk:repository">
|
311
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::20fe050fd9785a1b8593799a517239e9</to>
|
312
|
<ranking>17</ranking>
|
313
|
<fullname>LorraineGaunt</fullname>
|
314
|
</rel>
|
315
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
316
|
provenanceaction="sysimport:crosswalk:repository">
|
317
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::4694f04de96c5e08ff2f55c2bb8dfd6f</to>
|
318
|
<ranking>25</ranking>
|
319
|
<fullname>MarkMaddison</fullname>
|
320
|
</rel>
|
321
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
322
|
provenanceaction="sysimport:crosswalk:repository">
|
323
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::0c892ae0aeafbf6f9ce50a5cbd7da62b</to>
|
324
|
<ranking>5</ranking>
|
325
|
<fullname>HazelM.Robinson</fullname>
|
326
|
</rel>
|
327
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
328
|
provenanceaction="sysimport:crosswalk:repository">
|
329
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::1ceec40efc00fed5bd18683275ccbdae</to>
|
330
|
<ranking>13</ranking>
|
331
|
<fullname>PollyTalley</fullname>
|
332
|
</rel>
|
333
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
334
|
provenanceaction="sysimport:crosswalk:repository">
|
335
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::440bcbc3797d6d19b61b135ee3d3cc8e</to>
|
336
|
<ranking>21</ranking>
|
337
|
<fullname>VikkiRand</fullname>
|
338
|
</rel>
|
339
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
340
|
provenanceaction="sysimport:crosswalk:repository">
|
341
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::4ab91fe4b74e6d2e1ad8fd6e211a445e</to>
|
342
|
<ranking>29</ranking>
|
343
|
<fullname>PhilipJ.Stephens</fullname>
|
344
|
</rel>
|
345
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
346
|
provenanceaction="sysimport:crosswalk:repository">
|
347
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::0b7711c1b17b4b504f43f5d844b3f80a</to>
|
348
|
<ranking>20</ranking>
|
349
|
<fullname>PaulSinclair</fullname>
|
350
|
</rel>
|
351
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
352
|
provenanceaction="sysimport:crosswalk:repository">
|
353
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::0087433d53aff83586b2ffd6f950347b</to>
|
354
|
<ranking>6</ranking>
|
355
|
<fullname>PatriciaJacobs</fullname>
|
356
|
</rel>
|
357
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
358
|
provenanceaction="sysimport:crosswalk:repository">
|
359
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::152c4c96879ac99aec22f8b19d28abee</to>
|
360
|
<ranking>34</ranking>
|
361
|
<fullname>ChristineJ.Harrison</fullname>
|
362
|
</rel>
|
363
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
364
|
provenanceaction="sysimport:crosswalk:repository">
|
365
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::1d4a72a9524b25d1cdf3e922f104fa4d</to>
|
366
|
<ranking>8</ranking>
|
367
|
<fullname>SaraDyer</fullname>
|
368
|
</rel>
|
369
|
<rel inferred="true" trust="0.9" inferenceprovenance=""
|
370
|
provenanceaction="sysimport:crosswalk:repository">
|
371
|
<to class="hasAuthor" scheme="dnet:personroles" type="person">erc_________::0cb62e0d1814b0365e74d2bc9637cbb6</to>
|
372
|
<ranking>10</ranking>
|
373
|
<fullname>MikeGriffiths</fullname>
|
374
|
</rel>
|
375
|
</rels>
|
376
|
<children>
|
377
|
<result objidentifier="od_______908::79a21bb3081f4a0a3508af667f299570">
|
378
|
<title classid="main title" classname="main title" schemeid="dnet:dataCite_title"
|
379
|
schemename="dnet:dataCite_title">Constitutional and somatic rearrangement of
|
380
|
chromosome 21 in acute lymphoblastic leukaemia</title>
|
381
|
<dateofacceptance>2014-03-23</dateofacceptance>
|
382
|
<resulttype classid="publication" classname="publication"
|
383
|
schemeid="dnet:result_typologies" schemename="dnet:result_typologies"/>
|
384
|
</result>
|
385
|
<result objidentifier="erc_________::04d40adf775ff1e17d48554005543fd4">
|
386
|
<title classid="main title" classname="main title" schemeid="dnet:dataCite_title"
|
387
|
schemename="dnet:dataCite_title">Constitutional and somatic rearrangement of
|
388
|
chromosome 21 in acute lymphoblastic leukaemia</title>
|
389
|
<dateofacceptance>2014-03-23</dateofacceptance>
|
390
|
<resulttype classid="publication" classname="publication"
|
391
|
schemeid="dnet:result_typologies" schemename="dnet:result_typologies"/>
|
392
|
</result>
|
393
|
<instance id="openaire____::5ecaf0d3af3004219bc6b5907d19b6d9">
|
394
|
<licence classid="CLOSED" classname="Closed Access" schemeid="dnet:access_modes"
|
395
|
schemename="dnet:access_modes"/>
|
396
|
<instancetype classid="0001" classname="Article"
|
397
|
schemeid="dnet:publication_resource" schemename="dnet:publication_resource"/>
|
398
|
<hostedby name="European Research Council (ERC)"
|
399
|
id="openaire____::5ecaf0d3af3004219bc6b5907d19b6d9"/>
|
400
|
</instance>
|
401
|
<instance id="opendoar____::8b6dd7db9af49e67306feb59a8bdc52c">
|
402
|
<licence classid="OPEN" classname="Open Access" schemeid="dnet:access_modes"
|
403
|
schemename="dnet:access_modes"/>
|
404
|
<instancetype classid="0001" classname="Article"
|
405
|
schemeid="dnet:publication_resource" schemename="dnet:publication_resource"/>
|
406
|
<hostedby name="Europe PubMed Central"
|
407
|
id="opendoar____::8b6dd7db9af49e67306feb59a8bdc52c"/>
|
408
|
<webresource>
|
409
|
<url>http://europepmc.org/articles/PMC3976272</url>
|
410
|
</webresource>
|
411
|
|
412
|
</instance>
|
413
|
|
414
|
</children>
|
415
|
</oaf:result>
|
416
|
<extraInfo name="result citations" typology="citations"
|
417
|
provenance="iis::document_referencedDocuments" trust="0.9">
|
418
|
<citations>
|
419
|
<citation>
|
420
|
<rawText>Beroukhim, R. The landscape of somatic copy-number alteration across human
|
421
|
cancers. Nature. 2010; 463: 899-905</rawText>
|
422
|
<id value="od_______908::52b9d07294426a2154a869caa2a95b03" type="openaire" confidenceLevel="0.9"/>
|
423
|
<id value="20164920" type="pmid" confidenceLevel="0.9"/>
|
424
|
</citation>
|
425
|
<citation>
|
426
|
<rawText>Campbell, PJ. Identification of somatically acquired rearrangements in
|
427
|
cancer using genome-wide massively parallel paired-end sequencing. Nat Genet.
|
428
|
2008; 40: 722-729</rawText>
|
429
|
<id value="18438408" type="pmid" confidenceLevel="0.9"/>
|
430
|
</citation>
|
431
|
<citation>
|
432
|
<rawText>Campbell, PJ. The patterns and dynamics of genomic instability in
|
433
|
metastatic pancreatic cancer. Nature. 2010; 467: 1109-1113</rawText>
|
434
|
<id value="20981101" type="pmid" confidenceLevel="0.9"/>
|
435
|
</citation>
|
436
|
<citation>
|
437
|
<rawText>Crasta, K. DNA breaks and chromosome pulverization from errors in mitosis.
|
438
|
Nature. 2012; 482: 53-58</rawText>
|
439
|
<id value="od_______908::471dbca57c205108a8addb70c61d9081" type="openaire" confidenceLevel="0.9"/>
|
440
|
<id value="22258507" type="pmid" confidenceLevel="0.9"/>
|
441
|
</citation>
|
442
|
<citation>
|
443
|
<rawText>Greenman, CD. Estimation of rearrangement phylogeny for cancer genomes.
|
444
|
Genome Res. 2012; 22: 346-361</rawText>
|
445
|
<id value="od_______908::d28035ec357092818e09c3bde0593415" type="openaire" confidenceLevel="0.5559017"/>
|
446
|
<id value="21994251" type="pmid" confidenceLevel="0.9"/>
|
447
|
</citation>
|
448
|
<citation>
|
449
|
<rawText>Hamerton, JL, Canning, N, Ray, M, Smith, S. A cytogenetic survey of 14,069
|
450
|
newborn infants. I. Incidence of chromosome abnormalities. Clin Genet. 1975; 8:
|
451
|
223-243</rawText>
|
452
|
<id value="1183067" type="pmid" confidenceLevel="0.9"/>
|
453
|
</citation>
|
454
|
<citation>
|
455
|
<rawText>Hatch, EM, Fischer, AH, Deerinck, TJ, Hetzer, MW. Catastrophic nuclear
|
456
|
envelope collapse in cancer cell micronuclei. Cell. 2013; 154: 47-60</rawText>
|
457
|
<id value="od_______908::5d0b2f0351fa25d2555c6278453e3258" type="openaire" confidenceLevel="0.6456441"/>
|
458
|
<id value="23827674" type="pmid" confidenceLevel="0.9"/>
|
459
|
</citation>
|
460
|
<citation>
|
461
|
<rawText>Heerema, NA. Intrachromosomal amplification of chromosome 21 is associated
|
462
|
with inferior outcomes in children with acute lymphoblastic leukemia treated in
|
463
|
contemporary standard-risk children’s oncology group studies: a report from the
|
464
|
children’s oncology group. J Clin Oncol. 2013; 31: 3397-3402</rawText>
|
465
|
<id value="od_______908::d0833a850e076bb8381a74671e693f54" type="openaire" confidenceLevel="0.53978807"/>
|
466
|
<id value="23940221" type="pmid" confidenceLevel="0.9"/>
|
467
|
</citation>
|
468
|
<citation>
|
469
|
<rawText>Jacobs, PA, Browne, C, Gregson, N, Joyce, C, White, H. Estimates of the
|
470
|
frequency of chromosome abnormalities detectable in unselected newborns using
|
471
|
moderate levels of banding. J Med Genet. 1992; 29: 103-108</rawText>
|
472
|
<id value="od_______908::eb4099749494a517edf234b79cd16628" type="openaire" confidenceLevel="0.68028355"/>
|
473
|
<id value="1613759" type="pmid" confidenceLevel="0.9"/>
|
474
|
</citation>
|
475
|
<citation>
|
476
|
<rawText>Kim, TM. Functional genomic analysis of chromosomal aberrations in a
|
477
|
compendium of 8000 cancer genomes. Genome Res. 2013; 23: 217-227</rawText>
|
478
|
<id value="23132910" type="pmid" confidenceLevel="0.9"/>
|
479
|
</citation>
|
480
|
<citation>
|
481
|
<rawText>Korbel, JO, Campbell, PJ. Criteria for inference of chromothripsis in
|
482
|
cancer genomes. Cell. 2013; 152: 1226-1236</rawText>
|
483
|
<id value="webcrawl____::12b1d28cea36e5614c6744779e79d2d1" type="openaire" confidenceLevel="0.66779804"/>
|
484
|
<id value="23498933" type="pmid" confidenceLevel="0.9"/>
|
485
|
</citation>
|
486
|
<citation>
|
487
|
<rawText>Moorman, AV. Prognosis of children with acute lymphoblastic leukemia (ALL)
|
488
|
and intrachromosomal amplification of chromosome 21 (iAMP21). Blood. 2007; 109:
|
489
|
2327-2330</rawText>
|
490
|
<id value="od______1064::a9498acbd0433609eb8561cad5c69fbe" type="openaire" confidenceLevel="0.5837829"/>
|
491
|
<id value="17095619" type="pmid" confidenceLevel="0.9"/>
|
492
|
</citation>
|
493
|
<citation>
|
494
|
<rawText>Moorman, AV. Risk-directed treatment intensification significantly reduces
|
495
|
the risk of relapse among children and adolescents with acute lymphoblastic
|
496
|
leukemia and intrachromosomal amplification of chromosome 21: a comparison of
|
497
|
the MRC ALL97/99 and UKALL2003 trials. J Clin Oncol. 2013; 31:
|
498
|
3389-3396</rawText>
|
499
|
<id value="od______1064::0c1fe13f6f5fb405df462a9020fab10d" type="openaire" confidenceLevel="0.58606327"/>
|
500
|
<id value="23940220" type="pmid" confidenceLevel="0.9"/>
|
501
|
</citation>
|
502
|
<citation>
|
503
|
<rawText>Rand, V. Genomic characterization implicates iAMP21 as a likely primary
|
504
|
genetic event in childhood B-cell precursor acute lymphoblastic leukemia. Blood.
|
505
|
2011; 117: 6848-6855</rawText>
|
506
|
<id value="21527530" type="pmid" confidenceLevel="0.9"/>
|
507
|
</citation>
|
508
|
<citation>
|
509
|
<rawText>Rausch, T. Genome sequencing of pediatric medulloblastoma links
|
510
|
catastrophic DNA rearrangements with TP53 mutations. Cell. 2012; 148:
|
511
|
59-71</rawText>
|
512
|
<id value="22265402" type="pmid" confidenceLevel="0.9"/>
|
513
|
</citation>
|
514
|
<citation>
|
515
|
<rawText>Robinson, HM, Harrison, CJ, Moorman, AV, Chudoba, I, Strefford, JC.
|
516
|
Intrachromosomal amplification of chromosome 21 (iAMP21) may arise from a
|
517
|
breakage-fusion-bridge cycle. Genes Chromosomes.Cancer. 2007; 46:
|
518
|
318-326</rawText>
|
519
|
<id value="17243167" type="pmid" confidenceLevel="0.9"/>
|
520
|
</citation>
|
521
|
<citation>
|
522
|
<rawText>Sinclair, PB. Analysis of a breakpoint cluster reveals insight into the
|
523
|
mechanism of intrachromosomal amplification in a lymphoid malignancy. Hum Mol
|
524
|
Genet. 2011; 20: 2591-2602</rawText>
|
525
|
<id value="21487021" type="pmid" confidenceLevel="0.9"/>
|
526
|
</citation>
|
527
|
<citation>
|
528
|
<rawText>Stephens, PJ. Massive genomic rearrangement acquired in a single
|
529
|
catastrophic event during cancer development. Cell. 2011; 144: 27-40</rawText>
|
530
|
<id value="od_______908::b0f5bf78f87d54faa394fd35c1f1aeec" type="openaire" confidenceLevel="0.7138906"/>
|
531
|
<id value="21215367" type="pmid" confidenceLevel="0.9"/>
|
532
|
</citation>
|
533
|
<citation>
|
534
|
<rawText>Stiller, CA, Kroll, ME, Boyle, PJ, Feng, Z. Population mixing,
|
535
|
socioeconomic status and incidence of childhood acute lymphoblastic leukaemia in
|
536
|
England and Wales: analysis by census ward. Br J Cancer. 2008; 98:
|
537
|
1006-1011</rawText>
|
538
|
<id value="dedup_wf_001::7f897ccf336ec29ec4a1a25339ba5ee6" type="openaire" confidenceLevel="0.9"/>
|
539
|
<id value="18253115" type="pmid" confidenceLevel="0.9"/>
|
540
|
</citation>
|
541
|
<citation>
|
542
|
<rawText>Stratton, MR, Campbell, PJ, Futreal, PA. The cancer genome. Nature. 2009;
|
543
|
458: 719-724</rawText>
|
544
|
<id value="od_______908::e7499017924970b7bfc46d953206c343" type="openaire" confidenceLevel="0.6515188"/>
|
545
|
<id value="19360079" type="pmid" confidenceLevel="0.9"/>
|
546
|
</citation>
|
547
|
<citation>
|
548
|
<rawText>Strefford, JC. Complex genomic alterations and gene expression in acute
|
549
|
lymphoblastic leukemia with intrachromosomal amplification of chromosome 21.
|
550
|
Proc Natl Acad Sci U S A. 2006; 103: 8167-8172</rawText>
|
551
|
<id value="od_______908::48b5723469fdf9be63e8f05e1a2a9647" type="openaire" confidenceLevel="0.55975443"/>
|
552
|
<id value="16702559" type="pmid" confidenceLevel="0.9"/>
|
553
|
</citation>
|
554
|
</citations>
|
555
|
</extraInfo>
|
556
|
</oaf:entity>
|