ライフサイエンスコーパス: driver mutation

1 y either seeding a metastasis or acquiring a driver mutation.

2 athways is defined by lineage rather than by driver mutation.

3 rms (or novel isoforms), without an apparent driver mutation.

4 whereas ATCs were BRAF-like irrespective of driver mutation.

5 most always occur in the context of an L858R driver mutation.

6 nt components in human gliomas with distinct driver mutations.

7 dent of staging, grading, metastasis, and/or driver mutations.

8 2V, demonstrating its power for discovery of driver mutations.

9 it challenging to distinguish them from non-driver mutations.

10 somatic events in tumors, including hotspot driver mutations.

11 fates when exposed to the appropriate set of driver mutations.

12 ly at discrete genomic regions and generates driver mutations.

13 as failed to reveal any additional recurrent driver mutations.

14 that one-third of cohorts lack identifiable driver mutations.

15 improved by the identification of actionable driver mutations.

16 ew biologically and therapeutically relevant driver mutations.

17 g elevated mutation rates and do not contain driver mutations.

18 modifications, including repair of oncogenic driver mutations.

19 hen subjects carry different combinations of driver mutations.

20 ciated with a specific HLA allele or somatic driver mutations.

21 ll line from a tumor with none of the common driver mutations.

22 Both small deletions and inversions generate driver mutations.

23 suggesting that Barrett's initiates without driver mutations.

24 altered by the presence or absence of other driver mutations.

25 represents one of the most common oncogenic driver mutations.

26 protein-coding cancer genes carried probable driver mutations.

27 ancerous phenotypes, beyond PCAWG-identified driver mutations.

28 ed the presence of any other clear oncogenic driver mutations.

29 ia associated with acquisition of additional driver mutations.

30 om personal somatic alterations or recurrent driver mutations.

31 d therapeutic vulnerabilities from identical driver mutations.

32 with critical functional impacts, so-called driver mutations.

33 Cancers develop as a result of driver mutations(1,2) that lead to clonal outgrowth and

34 We report a higher overall prevalence of driver mutations (13.7%), which occurred mostly (93%) in

35 nome, making identification of low-frequency driver mutations a challenge.

36 in treating cancers that are caused by such driver mutations, a large body of methods have been deve

37 We identified 5234 driver mutations across 76 genes or genomic regions, wit

38 o class-defining lesions, other co-occurring driver mutations also had a substantial effect on overal

39 rrent smokers, at least 25% of cells carried driver mutations and 0-6% of cells had two or even three

40 We identified all currently recognized driver mutations and 7 novel mutations that cause consti

41 oid carcinomas are known to harbor oncogenic driver mutations and advances in sequencing technology n

42 er types show a positive association between driver mutations and aneuploidy, and a characteristic se

43 r cells are characterized by key founder and driver mutations and are enriched for cytogenetic altera

44 es were comparable to controls for MPN type, driver mutations and cardiovascular risk factors.

45 Here, we identify associations between driver mutations and chromosomal aberrations that define

46 Driver mutations and chromosomal aneuploidy are major de

47 While cancer driver mutations and copy-number alterations have been s

48 algorithms on benchmarks and in identifying driver mutations and delineating clonal substructure in

49 We observed previously unknown driver mutations and established the order in which thes

50 s of cancer has led to therapies that target driver mutations and has helped match patients with more

51 and epigenomes has defined large numbers of driver mutations and molecular subgroups, leading to the

52 ith HF harboring DNMT3A clonal hematopoiesis-driver mutations and n=4 patients with HF and no DNMT3A

53 and define a critical link between oncogenic driver mutations and NAD metabolism, which can be exploi

54 btypes are characterized by distinct sets of driver mutations and phenotypic appearance, and they oft

55 2 vs 17.6 years), with triple negativity for driver mutations and presence of HMR mutations represent

56 , a method for discriminating between cancer driver mutations and presumed benign variants.

57 cell lineage in glioblastoma independent of driver mutations and provide a methodology for functiona

58 g the evolution of a tumor may help identify driver mutations and provide a more comprehensive view o

59 of different algorithms in predicting cancer driver mutations and provides deep insights into the bes

60 arsimony-based approach to prioritize cancer driver mutations and provides dramatic improvements over

61 pecific phenotypic states linked to distinct driver mutations and response to immune checkpoint block

62 linical and genomic characteristics, between driver mutations and response to targeted therapy, and b

63 malignancies, challenging identification of driver mutations and targeted therapies.

64 Dysregulation of genes with reported driver mutations and the NF-kappaB pathway were found to

65 count for the discrepancies in the number of driver mutations and the organization of the stem cell c

66 to gain precision on the exact prevalence of driver mutations and the proportions of affected genes.

67 d tumors confirmed the presence of oncogenic driver mutations and their obligate partners.

68 tterns in tumorigenesis defined by recurrent driver mutations and their temporal ordering.

69 r origins, epidemiology, genetic complexity, driver mutations and underlying mutational processes.

70 exy, that do not engage a single discernable driver mutation, and whose clinical relevance is unclear

71 ions between inherited factors and phenotype driver mutations, and effects related to the order in wh

72 We assess the clonal states of Mut-driver mutations, and estimate levels of intra-tumour he

73 lth of information allowed the definition of driver mutations, and identification of actionable thera

74 inantly homogenous, independent of oncogenic driver mutations, and similar in benign and malignant ce

75 s remain unknown in patients with targetable driver mutations, and use of PD-L1 expression to guide t

76 inical decision-making because the different driver mutations are associated with distinct clinical f

77 nd functional characterization of individual driver mutations are central aims of cancer research, an

78 Subclonal driver mutations are common and parallel evolution occur

79 primary to recurrent tumors, indicating that driver mutations are commonly retained during ovarian ca

80 The numbers of tumor driver mutations are differentiated (p < 0.05) over the

81 Driver mutations are largely discovered through their fr

82 However, non-coding cancer driver mutations are less well-characterized and only a

83 ter for which chromosomal-arm aneuploidy and driver mutations are mutually exclusive.

84 reast cancer progression and that additional driver mutations are often acquired, posing both challen

85 Clonal driver mutations are positively selected, present in mos

86 A primary reason is that driver mutations are principally identified by their hig

87 rimary tumor in untreated patients, and PDAC driver mutations are shared by all subclones.

88 ndings that defy the orthodoxy of oncogenic "driver mutations" are now accumulating: the ubiquitous p

89 difications in the presence and clonality of driver mutations associated with GBM.

90 ific genomic landscape, that is, type of MPN driver mutations, association with other mutations, and

91 We show that it is difficult to capture a driver mutation at an intermediate frequency, and thus t

92 t be sufficiently frequent to produce such a driver mutation before non-mutators do.

93 ional burden, cell-to-cell heterogeneity and driver mutations, but quitting promotes replenishment of

94 nfected T-cell clones carrying key oncogenic driver mutations can be detected in cases of ATL years b

95 Last, the temporal order of occurrence of driver mutations can be inferred from phylogenetic analy

96 Driver mutations can locate at functional (binding or ac

97 important role in cancer development.Cancer driver mutations can occur within noncoding genomic sequ

98 Our work indicates that cancer epigenetic driver mutations can shape cancer immune phenotype and i

99 Cancers from sun-exposed skin accumulate "driver" mutations, causally implicated in oncogenesis.

100 ts, with 4.5% harboring presumptive leukemia driver mutations (CH-PD).

101 The acquisition of clonal hematopoiesis-driver mutations (CHDMs) occurs with normal aging and th

102 Sample analyses were designed to detect driver mutations, chromosome copy number aberrations, an

103 " "NSCLC," "synthetic lethality," "oncogenic driver mutations," "clinical trials," and "phase 3 clini

104 onsiderable between-patient heterogeneity in driver mutations complicates evidence-based personalizat

105 east cancers to advance understanding of the driver mutations conferring clonal advantage and the mut

106 findings demonstrate that vaccination to key driver mutations cooperates with checkpoint blockade and

107 tion of somatic mutations, clonal selection, driver mutation cooperation, and tumor evolution.

108 ering revealed four subgroups defined by key driver mutations, country, and gender.

109 We applied our approach to driver mutation data from the TCGA and the MSK-IMPACT cl

110 activity is increased by serum or oncogenic driver mutations depend on the 8q24 super-enhancer regio

111 rapid cancer cell characterization including driver mutation detection and therapeutic screening for

112 e to increase the sensitivity of widely used driver mutation detection methods, as well as identify s

113 ion, sometimes five, ten, or more, and these driver mutations do not necessarily assort randomly.

114 of clones harbouring del(8p) with additional driver mutations (EP300, MLL2 and EIF2A), with one patie

115 EBV-positive tumors had significantly fewer driver mutations, especially among genes with roles in a

116 High-grade gliomas defined by histone 3 K27M driver mutations exhibit global loss of H3K27 trimethyla

117 -hit gene combinations can suggest potential driver mutations for further investigation.

118 issue of Blood, Rowan et al demonstrate that driver mutations for human T-cell leukemia virus (HTLV)-

119 ndem duplications (FLT3-ITDs) are prognostic driver mutations found in acute myeloid leukemia (AML).

120 umors, providing a signal for distinguishing driver mutations from a larger number of random passenge

121 nes the selective coefficients of individual driver mutations from dN/dS estimates.

122 r-identified zygosity or with "personalized" driver mutations from pediatric glioma.

123 etected due to lack of power to discriminate driver mutations from the background mutational load (13

124 derived from the BCR-ABL fusion (BAp), a key driver mutation, generated a small population of mice th

125 odel for bacterial involvement in OSCC, with driver mutations generating a conducive microenvironment

126 ated donor, ASXL1 mutation, and non-CALR/MPL driver mutation genotype being independent predictors of

127 distribution of sizes of subclones carrying driver mutations had a heavy right tail at the time of t

128 The fact that the MLL-FP is the main driver mutation has allowed for a wide range of differen

129 methods proposed for the detection of cancer driver mutations have been based on the estimation of ba

130 thogenic variant discovery as well as cancer driver mutation identification.

131 e increasingly being used to assess putative driver mutations identified by large-scale sequencing of

132 ential areas of treatment, such as targeting driver mutations, immunotherapy, stem cell modulation, a

133 isk-organ-positive (MS-RO+) LCH results from driver mutation in a bone marrow (BM)-resident multipote

134 -RO- and single-system LCH would result from driver mutation in a circulating or tissue-resident, DC-

135 onine protein kinase (BRAF V600E) is the key driver mutation in hairy cell leukemia (HCL), suggesting

136 BRAF(V600E) is the most common driver mutation in human cutaneous melanoma and is frequ

137 es'), yet the same change is the most common driver mutation in melanoma.

138 These structures reveal how a driver mutation in p53 rendered a self-peptide visible t

139 11 inhibitor YM-254890, in all UM cells with driver mutation in the Galphaq subunit or the upstream r

140 recognize a shared neoepitope arising from a driver mutation in the p53 oncogene (p53R175H) presented

141 Combining driver mutations in 111 cancer genes with cytogenetic an

142 es from the same primary tumour, 100% of the driver mutations in 17 patients were homogeneous.

143 Identifying driver mutations in a patient's tumor cells is a central

144 are permissive for accumulation of multiple driver mutations in a single cell.

145 These mechanisms include primary driver mutations in bone marrow niche cells, changes ass

146 ors, resulting in characteristic patterns of driver mutations in BRAF, NRAS, and other genes.

147 We discover shared and distinct driver mutations in brain and spinal gliomas and confirm

148 istal regulatory elements harboring putative driver mutations in breast cancer.

149 oblems, including determination of potential driver mutations in cancer and other diseases, elucidati

150 Many driver mutations in cancer are specific in that they occ

151 Efforts to identify driver mutations in cancer have largely focused on genes

152 Identifying driver mutations in cancer is notoriously difficult.

153 on the "selective advantage" relation among driver mutations in cancer progression and investigate i

154 tiregion whole-exome sequencing suggest that driver mutations in cancer-relevant genes including EGFR

155 The spatial and temporal homogeneity of main driver mutations in DIPG implies they will be captured b

156 poiesis, as well as the functional impact of driver mutations in disease.

157 blastoma mouse models initiated by identical driver mutations in distinct cells of origin portray uni

158 cal approach to identify candidate noncoding driver mutations in DNase I hypersensitive sites in brea

159 ients with HF harboring clonal hematopoiesis-driver mutations in DNMT3A exhibit a highly inflamed tra

160 Driver mutations in EGFR, KRAS, MET, PIK3CA, and EML4-AL

161 Driver mutations in EGFR, MET, BRAF, and TP53 were almos

162 ne domain of the Neu (c-ErbB-2) gene are the driver mutations in ENU-induced malignant schwannomas, t

163 Lymphoma driver mutations in genes regulating B cell proliferatio

164 ls and arise from the acquisition of somatic driver mutations in haematopoietic stem cells (HSCs).

165 revealed significant exclusivity of HPV and driver mutations in head-and-neck cancer and the associa

166 KRAS is one of the most common driver mutations in human lung cancer and correlates wit

167 sms may also affect the penetrance of cancer driver mutations in humans.

168 of alleles on penetrance and expressivity of driver mutations in key developmental and homeostatic pa

169 GA) Lung Adenocarcinoma dataset called known driver mutations in KRAS, EGFR, BRAF, PIK3CA and MET in

170 t lymphoma-associated H1 alleles are genetic driver mutations in lymphomas.

171 have resulted in the discovery of recurrent driver mutations in many pediatric brain tumors.

172 quencing approach was used to detect somatic driver mutations in matched tumor DNA (tDNA) and plasma

173 pecies comparative oncogenomics, identifying driver mutations in mouse cancer models and validating t

174 In cutaneous melanoma, driver mutations in NRAS and BRAF promote CDK4/6 activat

175 KRAS is one of the most common oncogenic driver mutations in NSCLC, with prior attempts at direct

176 er, 85% of the BCCs also harbored additional driver mutations in other cancer-related genes.

177 mycin (mTOR) pathway have been elucidated as driver mutations in ovarian carcinomas that transform in

178 us environment for the emergence of specific driver mutations in PA.

179 Targeting major driver mutations in pancreatic cancer, such as dysregula

180 to estimate the frequency of potential weak-driver mutations in PCAWG samples lacking any well-chara

181 rovide a structural view of hotspot and weak driver mutations in PI3Kalpha activation, explain their

182 We identified frequent driver mutations in plasma ctDNA and tDNA in EGFR, KRAS,

183 The catalog of cancer driver mutations in protein-coding genes has greatly exp

184 or a possible mechanistic link between early driver mutations in RAS and KIT and the widespread copy

185 lize the pathological consequences of cancer driver mutations in selected common cancers and 'MiniPat

186 pots that may potentially represent founding driver mutations in skin cancer development.

187 We show that recurrent PC-driver mutations in speckle-type POZ protein (SPOP) stab

188 Driver mutations in the BRAF gene, a key player in the M

189 K, Ras, and mTORC1 superimposed on different driver mutations in the ERK and/or Akt pathways to bias

190 Concomitant activating driver mutations in the gene encoding the tyrosine kinas

191 linked to a hyperactivated RAS pathway, with driver mutations in the KRAS, NRAS, NF1, PTPN11, or CBL

192 cating an unexplored landscape of infrequent driver mutations in the non-coding genome.

193 We uncovered new driver mutations in the replication-repair-associated DN

194 The landscape of driver mutations in these tumors is dominated by mutatio

195 At the gene level, driver mutations in TP53, MYC and PTEN are enriched in h

196 Somatic driver mutations in tumor DNA (tDNA) and pre- and post-o

197 BL also exhibited frequent, newly identified driver mutations in ZNF217 and an additional epigenetic

198 Known "driver" mutations in genes for melanoma, including CDKN2

199 Normal endometrial glands frequently carry 'driver' mutations in cancer genes, the burden of which i

200 ions of abundant mutations, including cancer driver mutations, in histologically normal human tissues

201 The MPN-restricted driver mutations, including those in JAK2, calreticulin

202 With increasing mutation burden, numbers of driver mutations increase, but not linearly.

203 Driver mutations increased in frequency with age, affect

204 show that the expected number of accumulated driver mutations increases exponentially in time if the

205 A mutations occur after PTCH1 but before SCC driver mutations, indicating that ARID1A mutations may b

206 Here we introduce each of these driver mutations into intestinal organoids to show that

207 The KRAS oncogenic driver mutation is noted in 15% to 25% of patients with

208 ize that in both high- and low-risk LCH, the driver mutation is present in a BM-resident myeloid prog

209 Accurate identification of driver genes and driver mutations is critical for advancing cancer resear

210 A comprehensive catalog of cancer driver mutations is essential for understanding tumorige

211 As the catalog of oncogenic driver mutations is expanding, it becomes clear that alt

212 The influence of genetic background on driver mutations is well established; however, the mecha

213 with data including annotation of prevalent driver mutations (KRAS and EGFR) and tumor suppressor mu

214 pite the identification of several oncogenic driver mutations leading to constitutive JAK-STAT activa

215 The discovery of oncogenic driver mutations led to the development of targeted ther

216 Half of the driver mutations located on the branches of tumor phylog

217 ies suggest that DNMT3A clonal hematopoiesis-driver mutations may enhance inflammation, specific sign

218 s in three cancer types with underlying BRAF driver mutations: melanoma, NSCLC, and ATC.

219 e related gain of optimal therapy depends on driver mutation, metastasis, intrinsic cell birth and de

220 We integrate analyses for driver mutations, mutational burden, global, arm-level a

221 ignificant differences in mutational burden, driver mutations, mutational processes, and copy number

222 The impact of additional non-MPN driver mutations (NDM) on the risk of disease complicati

223 Most distant metastases acquired driver mutations not seen in the primary tumor, drawing

224 human melanocytes, specifically by melanoma driver mutations NRASQ61K and BRAFV600E, causes expressi

225 Thus, subsequent to a driver mutation, NTHi-induced inflammation promotes prol

226 nd a racial group as an "experimental unit", driver mutation numbers demonstrate a significant (r = 0

227 characteristic nucleotide contexts, whereas driver mutations occur in functional positions, which ar

228 contrast, the majority of truncal and clonal driver mutations occurred in tumor-suppressor genes, inc

229 utual exclusivity pattern that characterizes driver mutations occurring in the same pathway or functi

230 ata implicated CRAF R391W as the alternative driver mutation of this melanoma.

231 formation to DNA damage response induced by driver mutations of key splicing factors associated with

232 ecular analysis frequently detected hallmark driver mutations of myeloid neoplasms (such as JAK2V617F

233 Here, the authors investigate driver mutations of sporadic chordoma in 104 cases, reve

234 Timing analyses suggest that driver mutations often precede diagnosis by many years,

235 rovided for the fitness increases induced by driver mutations, often much larger than previously desc

236 ss the influence of the microenvironment and driver mutations on TPCs formation and function, the exi

237 rogeneity of TNBC and lack of high frequency driver mutations other than TP53 have hindered the devel

238 of inherited pathogenic variants and cancer driver mutations, outperforming state-of-the-art variant

239 d to reliably prioritize biologically active driver mutations over inactive passengers in high-throug

240 st marked in a carrier of the AML-associated driver mutation p.Arg882Cys.

241 esponses of TCs and TACs to specific somatic driver mutations, particularly TP53.

242 despite the predominance of single oncogenic driver mutations, perhaps due to second metabolic or gen

243 nificantly improved ranking of mutations and driver mutation prediction.

244 Cancers often show major changes in driver mutation presence or frequency after treatment, o

245 e sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutation

246 T5B(N642H), a frequently-occurring oncogenic driver mutation, promotes aggressive T-cell leukemia/lym

247 Defining the hierarchy of driver mutations provides insights into the process of t

248 Surprisingly, adding information on driver mutations reduced accuracy.

249 simple terms the linkage between allosteric driver mutations, release of autoinhibition, free energy

250 s disease, with multiple different oncogenic driver mutations representing possible therapeutic targe

251 ell (HSC) disorder, PV is a neoplasm but its driver mutations result in overproduction of morphologic

252 ation burden, with most mutations, including driver mutations, resulting from tissue-specific endogen

253 e-edited to contain tumor-associated genetic driver mutations revealed by The Cancer Genome Atlas pro

254 ents show the strongest effects of MHC-based driver mutation selection, with younger females showing

255 Two frequent cancer-driver mutation sequences (EGFR-L861Q, NRAS-Q61K) were t

256 ry and evolution of mutational processes and driver mutation sequences of 38 types of cancer.

257 We suggest that allosteric driver mutations shift the protein ensemble from the ina

258 pes, hypoxic tumors exhibited characteristic driver-mutation signatures.

259 tions, cancers typically carry more than one driver mutation, sometimes five, ten, or more, and these

260 r of the six tumor pairs showed KRAS hotspot driver mutations specifically in the mucinous tumor.

261 mechanisms of activation driven by PI3Kalpha driver mutations, spotlighting the PI3Kalpha double (mul

262 Driver mutations, such as point mutations and structural

263 Prior studies have applied driver mutations targeting the RTK/RAS/PI3K and p53 path

264 Under the hypothesis that driver mutations tend to cluster in key regions of the p

265 individuals accumulate more poorly presented driver mutations than those in older and male patients,

266 ages of the CBL activation cycle to identify driver mutations that affect CBL stability, binding, and

267 lot study identifies several novel candidate driver mutations that are likely to be caused by IR expo

268 We identified novel driver mutations that developed during adenoma and cance

269 It can detect genes harboring rare driver mutations that may be missed by existing methods.

270 ParsSNP identified many known and likely driver mutations that other methods did not detect, incl

271 Understanding why driver mutations that promote cancer are sometimes rare

272 ytokine production, and acquisition of novel driver mutations that promote leukemia outgrowth.

273 rning previously uncharacterized activating "driver" mutations that will respond to drug treatment fr

274 somatic alterations except for pathognomonic driver-mutations that cannot explain overt variations in

275 ts to identify and evaluate the tumor's main driver mutations, the tumor mutational burden, activity

276 These treatments include drugs that target driver mutations, those that target presumed important m

277 btypes and exhibit a diverse set of putative driver mutations, thus providing a unique patient-derive

278 However, non-coding RNAs can regulate driver mutations to develop cancer.

279 In addition to common driver mutations (TP53, CTNNB1) frequently found in pan-

280 ate clonal evolution due to the emergence of driver mutations under the infinite-allele assumption as

281 tablished the order in which these and known driver mutations undergo selection.

282 atched control samples to identify potential driver mutations underlying MPM.

283 , respectively, have "canonical" MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate co

284 e to DCs and LC-like cells in vitro, but the driver mutation was not easily detectable, likely due to

285 We found that mutability of driver mutations was lower than that of passengers and c

286 Given the paucity of somatic driver mutations, we further performed whole-genome sequ

287 Driver mutations were confidently assigned to most patie

288 alignant HTLV-1-infected cells bearing known driver mutations were detected in the blood up to 10 yea

289 ur targeted sequencing approach, endometrial driver mutations were identified in all seven women who

290 In addition, relatively high allele fraction driver mutations were identified in the lavage fluid of

291 Probable driver mutations were present in around 1% of normal col

292 ticipants with detected driver and potential driver mutations were significantly older (mean age muta

293 The different types of driver mutations were similarly distributed between the

294 Treated metastases often harbored private 'driver' mutations, whereas untreated metastases did not,

295 t tissue is acquired via the accumulation of driver mutations which enable the tumour to progress thr

296 e hallmarks of cancer is the accumulation of driver mutations which increase the net reproductive rat

297 Identifying key "driver" mutations which are responsible for tumorigenesi

298 ghlights the value of targeting the FLT3-ITD driver mutation with a highly potent and selective FLT3

299 digm for precision oncology, which pairs one driver mutation with one drug, may be optimized by treat

300 ue to inter-tumor genetic heterogeneity many driver mutations within a gene occur at low frequencies,