ライフサイエンスコーパス: mutational signature

1 alyzing rate spectra of point mutations, or "mutational signatures".

2 editing catalytic polypeptide-like (APOBEC) mutational signature.

3 ower frequency and a different UV-associated mutational signature.

4 ficient cancers, which display a distinctive mutational signature.

5 apse in highly expressed genes, with a clear mutational signature.

6 er is another cancer type that exhibits this mutational signature.

7 of APOBEC3F with AID resulted in an AID-like mutational signature.

8 xpansion of a single cancer cell bearing the mutational signature.

9 h minimal contribution of smoking-associated mutational signature.

10 -repair gene (SMUG1) correlate with a C-to-T mutational-signature.

11 ce characteristic mutational patterns called mutational signatures.

12 d to explore the origin of cancer-associated mutational signatures.

13 d these are mainly attributable to two known mutational signatures.

14 etic and epigenetic perturbations and unique mutational signatures.

15 cancers and extracted more than 20 distinct mutational signatures.

16 dom patterns of DNA mutations, also known as mutational signatures.

17 rosatellite indel burdens, and pathognomonic mutational signatures.

18 four commonly used approaches for assigning mutational signatures.

19 BEC3A deletion diminished APOBEC3-associated mutational signatures.

20 antify the contributions of these factors to mutational signatures.

21 ancer genomes can be traced by investigating mutational signatures.

22 and have associations with variations in DNA mutational signatures.

23 elationship between these results and cancer mutational signatures.

24 utational framework aimed at deciphering DNA mutational signatures.

25 orty-one yielded characteristic substitution mutational signatures.

26 types were reflected in distinctive genomic mutational signatures.

27 es, each of which generates a characteristic mutational signature(1).

28 The contribution of mutational signature 17 is significantly enriched in pat

29 COSMIC mutational signature 18, previously associated with reac

30 This indicated that COSMIC mutational signature 24, previously hypothesized to stem

31 wed more ERBB2 somatic mutations, infrequent mutational signature 3 and frequent CDKN2A loss.

32 We identify two determinants of response; mutational signature 3 reflecting defective homologous r

33 to reconstruct evolutionary trajectories of mutational signature activity.

34 roducing pks(+)E. coli strain (EcC) revealed mutational signatures also found in colorectal cancer (C

35 or handling whole-genome sequencing data for mutational signature analyses and discuss pitfalls in in

36 Phylogenetic and mutational signature analyses confirm cylindroma pulmona

37 Mutational signature analyses pointed towards APOBEC dea

38 Mutational signature analysis also confirms that extreme

39 The results of the mutational signature analysis are in agreement with the

40 R)-mutant lung cancers, we hypothesized that mutational signature analysis may help elucidate acquire

41 We show how a comprehensive mutational signature analysis may provide relevant biolo

42 Mutational signature analysis of 14 tumors from 7 organs

43 A mutational signature analysis of recurrent tumors reveal

44 Mutational signature analysis revealed age- and gender-r

45 tic aberrations, subclone combinatorics, and mutational signature analysis revealed at least two to f

46 Here we report that mutational signature analysis reveals a subset of tumors

47 Mutational signature analysis reveals that this differen

48 Mutational signature analysis was extended to genome rea

49 have a defect in DNA repair, identifiable by mutational signature analysis, that may be targetable wi

50 Mutational signatures analysis showed how cytotoxic agen

51 tis elegans whole-genome sequencing to model mutational signatures, analyzing 183 worm populations ac

52 ther, these analyses identify an NER-related mutational signature and highlight the related roles of

53 Our data suggest that the 'platinum' mutational signature and inactivation of REV3L may infor

54 These approaches revealed a distinct mutational signature and nine significantly mutated gene

55 minases in generating particular genome-wide mutational signatures and a signature of localized hyper

56 nclusion, we identified risk factor-specific mutational signatures and defined the extensive landscap

57 Associations between specific mutational signatures and ESCC risk factors were identif

58 ms, thereby enabling the characterization of mutational signatures and estimation of somatic mutation

59 ds to more mutated sites, a diverse array of mutational signatures and is linked to tumor prognosis.

60 s, and gross tumor characteristics including mutational signatures and load.

61 a identifies clinically-actionable variants, mutational signatures and permits algorithmic stratifica

62 ata reveals a strong association between A3A mutational signatures and sensitivity to HMCES loss and

63 ifferences in HRD-related and APOBEC-related mutational signatures and significant differences betwee

64 tational burden, microsatellite instability, mutational signatures and sources of somatic mutations i

65 positive case-control samples to investigate mutational signatures and the role of human APOBEC3-indu

66 tibility genes were associated with specific mutational signatures and TMB of cancer-driver genes, re

67 WAS risk-loci-associated genes contribute to mutational signatures and tumor mutational burden (TMB)

68 with TNBC/basal-like breast cancer, a BRCA1 mutational signature, and poor survival after chemothera

69 ication of cancer driver genes, detection of mutational signatures, and estimation of tumor mutationa

70 ations (88%), copy number alterations (80%), mutational signatures, and neoantigens between cfDNA and

71 ability with 10-fold greater sensitivity and mutational signatures, and specific tumor mutations with

72 DNA sequencing can identify mutations, mutational signatures, and structural alterations predic

73 ical locations, we identify niche-associated mutational signatures, and then employ these signatures

74 APOBEC mutational signatures are enriched in tumours from patie

75 APOBEC mutational signatures are frequent in RTK-driven LUADs a

76 e from NGS data that well-defined carcinogen mutational signatures are indeed present in tumour genom

77 Our data show that mutational signatures are joint products of DNA damage a

78 veal APOBEC3B and 3A as the deaminases whose mutational signatures are most similar to those of breas

79 Mutational signatures are patterns in the occurrence of

80 ir specific research question, such as which mutational signatures are prevalent in different cancer

81 derstanding the etiologies of cancer-derived mutational signatures are underway.

82 The mechanisms underlying most of these mutational signatures are unknown.

83 rns of somatic mutation accumulation, termed mutational signatures, are indicative of processes susta

84 Synchronous HCCs exhibited the same mutational signatures as background cirrhotic liver, but

85 mated 7% to 12% of gastric cancers exhibit a mutational signature associated with homologous recombin

86 ts of large (>100 kb) tandem duplications, a mutational signature associated with homologous-recombin

87 , which can be used to accurately detect the mutational signature associated with HR deficiency from

88 BRCA2, BRCA1 or RPA, resulted in a distinct mutational signature associated with significant increas

89 c mutational signatures; however, a specific mutational signature associated with somatic alterations

90 We reveal distinct mutational signatures associated with classical NHEJ-med

91 even in the presence of UNG, and identified mutational signatures associated with combined UNG and S

92 We replicated the previously described MNV mutational signatures associated with DNA polymerase zet

93 ng can recapture and mechanistically explain mutational signatures associated with human disease.

94 highlights the genetic evolution and non-UVB mutational signatures associated with melanoma developme

95 everal genetic driver events, clonality, and mutational signatures associated with poor outcome in ea

96 cing analysis of 243 liver tumors identified mutational signatures associated with specific risk fact

97 e that antibodies to m6A can induce specific mutational signatures at m6A residues after ultraviolet

98 ound that these antibodies similarly induced mutational signatures at N(6),2'-O-dimethyladenosine (m6

99 new method for the statistical estimation of mutational signatures based on an empirical Bayesian tre

100 Applying the HRDetect mutational-signature-based algorithm to classify tumors,

101 iency was identified in 69% of TNBC with the mutational-signature-based HRDetect assay.

102 ving viruses, the rapid emergence of APOBEC3 mutational signatures begs a series of important and ope

103 At least half of these mutational signatures can be readily assigned to known h

104 Mutational signatures can be used as a physiological rea

105 Mutational signatures can be used to understand cancer o

106 Mutational signatures can reveal properties of underlyin

107 We identify eight processes, including a mutational signature caused by exposure to melphalan.

108 identification of MMR defects by providing a mutational signature characteristic of hPMS2 defect.

109 omatic ERCC2 mutations and the activity of a mutational signature characterized by a broad spectrum o

110 ted SCCHN genomes uniquely exhibited a novel mutational signature characterized by C:G to A:T transve

111 n the pooled analysis IR was associated with mutational signatures common to both species.

112 ations, including low coding mutation rates, mutational signatures consistent with aging tissues, min

113 post-chemotherapy samples from 10 cases, the mutational signatures, copy number, and SNV mutational p

114 Our work demonstrates that selected mutational signatures correlated with specific clinical

115 sure production of accurate and reproducible mutational signature data.

116 We identify a mutational signature defined by a high prevalence of A>C

117 Unsupervised analysis of mutational signatures demonstrates the activities of can

118 The stability of NMF-generated mutational signatures depends upon the numbers of varian

119 APOBEC mutational signatures derived from an Food and Drug Admi

120 were validated against the gold standard of mutational signatures derived from whole-exome sequencin

121 h mutational process leaves a characteristic mutational signature determined by the mechanisms of DNA

122 BEC3G in vivo established the induction of a mutational signature distinct from those caused by APOBE

123 We present a comprehensive analysis of mutational signatures, driver genes, and molecular subty

124 We identify six mutational signatures (E1-E6), and Signature E4 is uniqu

125 APOBEC mutational signature enrichment in subclonal mutations,

126 In this review, we highlight key aspects of mutational signature experimental design and describe th

127 thus identifying 2-nt deletions as a unique mutational signature for TAM.

128 ce pancreatic cancer and exploit CRISPR/Cas9 mutational signatures for phylogenetic tracking of metas

129 polymerase alleles may generate distinctive mutational signatures for probing functions in vivo.

130 Additionally, we analyze the mutational signatures for samples in each subtype, which

131 ithout translesion synthesis is similar to a mutational signature found in melanomas, suggesting that

132 AFB1 mutational signatures from all four experimental systems

133 The extraction of mutational signatures from high-throughput data still re

134 -effective method, called mutREAD, to detect mutational signatures from small quantities of DNA, incl

135 Analyses of mutational signatures further corroborate the participat

136 To investigate ongoing patterns of mutational-signature generation, cell lines were culture

137 Previously, only one clustered mutational signature had been clearly associated with a

138 APOBEC-dependent mutational signatures have been well-characterized, alth

139 n in tumors and can result in characteristic mutational signatures; however, a specific mutational si

140 In addition to these genome-wide mutational signatures, hypermutation localized to small

141 latinum and/or eribulin, whereas the de novo mutational signature I identified in this study is signi

142 A focused mutational signature identification approach was also de

143 We show that mutREAD recapitulates mutational signatures identified by whole genome sequenc

144 The order of mutational signatures identified previous treatment and

145 18) histological subtypes and identify three mutational signatures, impacting TpT, CpG and TpCp[A/T]

146 tes large-scale, cross-dataset estimation of mutational signatures, implements existing methods for p

147 e experimentally identify a novel and unique mutational signature imprinted by acrylamide through the

148 Our results reveal a characteristic mutational signature in Apc that is attributable to Mlh1

149 Our study describes a distinct mutational signature in colorectal cancer and implies th

150 n the spontaneous mutation rate and that the mutational signature in DeltarecD2 cells is not consiste

151 tory of individual cells, we uncover a novel mutational signature in healthy aging endocrine cells.

152 We identified the prevalence of this hybrid mutational signature in many other types of human cancer

153 The TP53 mutational signature in patients with UUC, dominated by

154 e subsequently identify and validate a novel mutational signature in post-treatment tumors consistent

155 clude that N-OH-AABP leaves a characteristic mutational signature in the cII transgene, which is cons

156 urothelium, where they give rise to a unique mutational signature in the TP53 tumor-suppressor gene.

157 at acral skin is sun-protected, the dominant mutational signature in these samples is compatible with

158 A746 allele, as Pol zeta produces a distinct mutational signature in this assay.

159 , characterized by high prevalence of APOBEC mutational signature in younger females and over-represe

160 We examined mutational signatures in 324 WGS human-induced pluripote

161 position results and applied them to analyze mutational signatures in breast cancer genomes.

162 Mutational signatures in cancer genomes have implicated

163 nds the landscape of the naturally occurring mutational signatures in cancer genomes, and provides ne

164 biting 20 DSB-repair factors we define their mutational signatures in detail, revealing insights into

165 pletely capture the patterns of substitution mutational signatures in human cancer; (iii) information

166 everal landscapes parallel the repertoire of mutational signatures in human cancers while others are

167 the high-throughput discovery and tracing of mutational signatures in human cells, precancerous lesio

168 cing, and will ultimately allow the study of mutational signatures in larger cohorts and, by compatib

169 resentation of environmental carcinogen-like mutational signatures in older females.

170 validate our findings, we characterized the mutational signatures in patients, grouped by low and hi

171 ristic sequence preferences that can produce mutational signatures in targets such as retroviral and

172 ational method that analyzes the patterns of mutational signatures in tumors and predicts the likelih

173 wide frequencies of copy number alterations, mutational signatures in whole exome, and tumor mutation

174 responders to platinum therapy exhibit this mutational signature including a sample that lacked any

175 er histological grade, and observed multiple mutational signatures, including one present in about te

176 pinning resistance to endocrine therapy, and mutational signatures indicating therapeutic vulnerabili

177 ines and 577 xenografts revealed most common mutational signatures, indicating past activity of the u

178 tion (NMF) into discrete trinucleotide-based mutational signatures indicative of specific cancer-caus

179 However, the mutational signatures induced by distinct types and dose

180 Mutational signatures inferring defects in DNA repair we

181 We next show that the glycidamide mutational signature is found in a full one-third of app

182 Colibactin's distinct mutational signature is reflected in human CRC, suggesti

183 An APOBEC mutational signature is seen in 3.8% of cases and is lin

184 Analysis of mutational signatures is a powerful approach for underst

185 Analysis of mutational signatures is becoming routine in cancer geno

186 utation burden and MMR deficiency-associated mutational signatures is identified, which may represent

187 d, ncdDetect, which includes sample-specific mutational signatures, long-range mutation rate variatio

188 Clonal clock mutational signatures, marking the age of tumor initiati

189 A high-risk mutational signature may help risk stratify treatment ou

190 After additional validations, mutational signatures might be used to identify tumors w

191 = 3); trisomy 8q (n = 2); and an ultraviolet mutational signature (n = 5).

192 risk for extracolonic cancers and a typical mutational signature observed across tumor types, which

193 ression may drive BIR, and contribute to the mutational signatures observed in BRCA1-mutated cancers.

194 to carcinogens recapitulate key features of mutational signatures observed in human cancers.

195 al resolution of ccRCC evolution and refines mutational signatures occurring during tumor development

196 teins into the acceptor scaffold of AID, the mutational signature of AID changes toward that of the d

197 Such enhancements in the mutational signature of B(a)PDE were most pronounced wit

198 The cohort harbored a mutational signature of BRCA and APOBEC/AID.

199 ntenance genes (BRCA1, BRCA2 or PALB2) and a mutational signature of DNA damage repair deficiency.

200 This unique mutational signature of N-OH-AABP in the cII gene was, h

201 Experimentally, the mutational signature of post-treatment hypermutated glio

202 cell fate and to detect and characterize the mutational signature of rare field transformations in hu

203 ity for the search and identification of the mutational signature of redox stress in cancers and in o

204 re deciphering of the mutational spectra and mutational signature of redox stress in ssDNA of budding

205 A further mutational signature of unknown cause was ubiquitous but

206 e present the first whole-genome data on the mutational signatures of AFB1 exposure from a total of >

207 We propose to identify mutational signatures of available SARS-CoV-2 sequences

208 pared with primary CRC, BM exhibits elevated mutational signatures of homologous recombination defici

209 Cancers with HRDetect mutational signatures of HR deficiency had a functional

210 The mutational signatures of human and mouse OSCC overlap ex

211 o marked by reduced DNA methylation and bear mutational signatures of hypomethylation through evoluti

212 en subjects; and generating several distinct mutational signatures of substitutions and of insertions

213 ation of the in vivo bypass efficiencies and mutational signatures of the DNA lesions.

214 The protein, RNA and mutational signatures of the LCCLs were similar to those

215 and applied mathematical methods to extract mutational signatures of the underlying processes.

216 roportion of mutations attributed to several mutational signatures of unknown aetiology directly asso

217 ccumulated in a cell, with each imprinting a mutational signature on the cell's genome.

218 ented by PUVA-II treatment, leaving a unique mutational signature on the cII transgene.

219 omponents and leaving its own characteristic mutational signature on the genome.

220 del the effects of tumor mutation burden and mutational signatures on comutation patterns.

221 h process leaves a characteristic imprint--a mutational signature--on the cancer genome, which is def

222 We identify four de novo mutational signatures, one of which matches the COSMIC A

223 al that most agents do not generate distinct mutational signatures or increase mutation burden, with

224 By enabling panel-based identification of mutational signatures, our method substantially increase

225 aking into consideration trinucleotide-based mutational signatures, owing to lack of power or to effi

226 This compendium of experimentally induced mutational signatures permits further exploration of rol

227 ression model to identify six distinguishing mutational signatures predictive of BRCA1/BRCA2 deficien

228 noncoding genome in prostate cancer reveals mutational signatures predictive of clinical observation

229 sertion/deletion (indel) and 6 rearrangement mutational signatures present in breast tissue, exhibit

230 mly across the genome and were enriched in a mutational signature previously observed in cancers and

231 d samples with mutagenic patterns similar to mutational signatures previously attributed to reactive

232 Here, we use a distinct mutational signature produced by Polzeta in a frameshift

233 Mutational signatures provide a powerful alternative for

234 Cancer mutational signatures reflect exogenous or endogenous pr

235 The dominant mutational signature reflects DNA damage due to ultravio

236 ny newly acquired SNVs are associated with a mutational signature related to cisplatin treatment.

237 vers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational p

238 ntification of the structural and functional mutational signatures relevant to Mendelian disorders an

239 The genome of HCC exhibits diverse mutational signatures, resulting in recurrent mutations

240 These cancers showed an increase in mutational signatures S2, S3, S10, S13 and S17.

241 arried mutations corresponding to the COSMIC mutational signature SBS17, which were not present in bi

242 mor mutation rate with Enco+Cetux+/-Bini and mutational signatures (SBS17a/b).

243 APOBEC mutational signatures SBS2 and SBS13 are common in many

244 cral melanomas had lower TMB and ultraviolet mutational signature scores than nonacral melanomas.

245 ng "chromoanasynthesis," a replication-based mutational signature seen in constitutional genomic diso

246 The APOBEC mutational signature seen in myeloma is, therefore, asso

247 Unsupervised clustering of mutational signatures separated the patients into two ca

248 urden doubles, the relative contributions of mutational signatures shift and the mutation frequency o

249 Two mutational signatures show clock-like properties.

250 However, mutational signatures showed three distinct molecular su

251 talytic polypeptide-like (APOBEC)-associated mutational signatures single-base substitution (SBS)2 an

252 umors and paired distant metastases although mutational signatures suggest different mutagenesis proc

253 hromosomal amplifications and deletions, and mutational signatures suggesting defective DNA repair.

254 strong PDL1 expression, and the frequency of mutational signatures suggestive of immunotherapy resist

255 us identify more comprehensive context-based mutational signatures than traditional NMF approaches.

256 and after this exposure revealed a distinct mutational signature that was absent from organoids inje

257 ons occur on longer cfDNA fragments and lack mutational signatures that are associated with tobacco s

258 PDGFRA genes in GIST tumors may similarly be mutational signatures that are causally linked to specif

259 ctal cancer, including the identification of mutational signatures that are thought to arise from col

260 r exomes and whole genomes revealed distinct mutational signatures that can be attributed to specific

261 and defects in DNA repair create distinctive mutational signatures that combine to form context-speci

262 us, ionizing radiation generates distinctive mutational signatures that explain its carcinogenic pote

263 608 liver cancer cases and identified unique mutational signatures that predominantly contribute to A

264 We characterized mutational signatures that were consistent with those re

265 mutations, novel noncoding alterations, and mutational signatures that were shared by common and rar

266 ate cancer etiology is the study of somatic "mutational signatures" that endogenous and exogenous pro

267 different types of DNA mutations, providing 'mutational signatures' that have led to key insights int

268 Here we describe the mutational signatures they harbour, including a deficien

269 ic tumors could also have contributed to the mutational signature through accumulation of unrepaired

270 Integrating all of the classes of mutational signatures thus reveals a larger proportion o

271 In fact, many sequence-specific mutational signatures uncovered in sequenced cancer geno

272 Recent studies have revealed the mutational signatures underlying the somatic evolution o

273 deep learning approach, DeepMS, to decompose mutational signatures using 52,671,908 somatic mutations

274 Cancer Genome Atlas (TCGA), we characterized mutational signatures using 84,729,690 somatic mutations

275 We find that the mutational signatures vary substantially across differen

276 ts, computing mutation types, and extracting mutational signatures via non-negative matrix factorizat

277 Recently, a mutational signature was associated with failure of doub

278 The same mutational signature was detected in a subset of 5,876 h

279 Furthermore, no UV light-induced mutational signature was identified.

280 structing the chronological activity of each mutational signature, we estimate that the initial trans

281 Independent of an evolving mutational signature, we show that the growth of gliobla

282 orrelating stemTOC to two clock-like somatic mutational signatures, we confirm the mitotic-like natur

283 e need for effective comparison of refitting mutational signatures, we introduce a user-friendly soft

284 Using mutational signatures, we predicted that majority of the

285 20%, P < 0.001); across all subtypes, APOBEC mutational signatures were enriched in subclonal mutatio

286 Mutational signatures were heterogeneous across clones a

287 Unique low-level mutational signatures were identified for each colon can

288 of Catalogue of Somatic Mutations in Cancer mutational signatures were identified in MEKi-sensitive

289 APOBEC mutational signatures were more frequent in receptor tyr

290 ty-associated and tobacco smoking-associated mutational signatures were respectively enriched in the

291 Some mutational signatures were universal and equally active

292 ion/deletion and rearrangement patterns, or 'mutational signatures', were associated with BRCA1/BRCA2

293 ) is distinctly different; we identify novel mutational signatures which are recapitulated in vitro i

294 rden (TMB) and a dominant ultraviolet damage mutational signature, which suggested that for the subse

295 reased mutation burdens of multiple distinct mutational signatures, which contribute to different ext

296 ancer and the association of HPV with APOBEC mutational signatures, which suggests that impaired anti

297 hat are spatially clustered to have a unique mutational signature with no significant differences bet

298 We integrated the experimental mutational signatures with data from newly sequenced HCC

299 ted rearrangements were linked with univocal mutational signatures, with clusters of point mutations

300 ructSigs, which allows the identification of mutational signatures within a single tumor sample.