ライフサイエンスコーパス: somatic mutation

1 that occur in response to both familial and somatic mutation.

2 thogens than can a single, linear pathway of somatic mutation.

3 of diagnosis, and exhibited a higher rate of somatic mutation.

4 ietic stem and progenitor cells that acquire somatic mutations.

5 s crucially dependent on the accumulation of somatic mutations.

6 while late-onset cancers are more driven by somatic mutations.

7 ancer cells, or clones, that harbor distinct somatic mutations.

8 its inability to distinguish germline versus somatic mutations.

9 ld become neutralizing with a limited set of somatic mutations.

10 iatric solid tumor with infrequent recurrent somatic mutations.

11 ken for germline alleles even when caused by somatic mutations.

12 ter understand cancer heterogeneity based on somatic mutations.

13 s associated with characteristic patterns of somatic mutations.

14 fication artifacts from biologically derived somatic mutations.

15 sease of aging fueled by the accumulation of somatic mutations.

16 advantage of tumor neoantigens derived from somatic mutations.

17 eatures including exceedingly high levels of somatic mutations.

18 number of hits based on the distribution of somatic mutations.

19 ts through stepwise acquisitions of multiple somatic mutations.

20 fficient to provide the resolution to detect somatic mutations.

21 attern of extensively branching evolution of somatic mutations.

22 volution from the site frequency spectrum of somatic mutations.

23 trum of variable (V) genes and low levels of somatic mutations.

24 veral groups reported that ARCH is driven by somatic mutations [2], with the most prevalent ARCH muta

25 sruption of CTCF binding at specific loci by somatic mutation(3,4) or DNA hypermethylation(5) results

26 Additionally, a higher frequency of somatic mutation (92%) was observed in adenocarcinoma (P

27 Understanding how somatic mutations accumulate in cancer genomes and the u

28 Somatic mutations accumulate in healthy tissues as we ag

29 Somatic mutations accumulate in stem cells over time.

30 Somatic mutations acquired in healthy tissues as we age

31 is as well as shared mechanisms that lead to somatic mutations across tissues.

32 We identified 25 men with somatic mutations affecting methionine-41 (p.Met41) in U

33 g an unanticipated high level of age-related somatic mutations affecting most individuals and tissues

34 Rare somatic mutations affecting these same motif classes tra

35 hematopoietic stem cells that acquire these somatic mutations also give rise to mutated immune effec

36 The extent of somatic mutation and clonal selection in the human bladd

37 We show that the per-year somatic mutation and epimutation rates are lower than in

38 Somatic mutation and gene expression dysregulation are c

39 where rapidly proliferating B cells undergo somatic mutation and selection and eventual differentiat

40 rds the relationships among gene expression, somatic mutation and survival data for cancer patients.

41 ential escape plans of SARS-CoV-2, including somatic mutations and antibody-dependent enhancement (AD

42 Each patient had a unique repertoire of somatic mutations and associated neoantigens.

43 an elegant single-cell method that genotypes somatic mutations and captures whole transcriptomes in t

44 t multiple time points reveal acquisition of somatic mutations and copy number aberrations over time.

45 cs data further reveal functional effects of somatic mutations and copy number variations (CNVs) not

46 modelling system for fluorescently barcoding somatic mutations and directly visualizing the clonal ex

47 Plants can transmit somatic mutations and epimutations to offspring, which i

48 tor pervade, studies of associations between somatic mutations and gene expression changes have been

49 Cancers harbor many somatic mutations and germline variants, we hypothesized

50 es of intratumor heterogeneity, detection of somatic mutations and inference of clonal membership fro

51 HTLV-1 infection, and the tumors carry both somatic mutations and proviral DNA integrated into the t

52 Collectively, we establish cooperation of somatic mutations and regulatory germline variants as a

53 Integrated analysis of somatic mutations and RNA expression data across 12 tumo

54 usion system that quantitatively prioritizes somatic mutations and target genes from a large pool.

55 To identify somatic mutations and the extent of immune cell infiltra

56 istic understanding of the interplay between somatic mutations and the signalling networks that gover

57 on 21 patients with prolactinomas to detect somatic mutations and then validate the mutations with d

58 enetic defects (e.g., Apc and Pten), acquire somatic mutations and widespread copy number alterations

59 sion of genes, influencing the selection for somatic mutations, and causing genome-wide mutational en

60 ology downstream of copy number aberrations, somatic mutations, and fusions and identified therapeuti

61 terized by cytologic atypia, accumulation of somatic mutations, and genomic instability, the etiologi

62 ) polymerase-1 (PARP1) activity, single-cell somatic mutations, and ultimately degeneration.

63 e T-cell immunoresponse, especially when the somatic mutations are abundant.

64 In humans, somatic mutations are associated with many cancers in ad

65 Somatic mutations are critical early drivers of the diso

66 c risk scores, environmental pollutants, and somatic mutations are discussed.

67 Somatic mutations are enriched on the relatively slow-re

68 constraint are likely to be functional, and somatic mutations are likely more damaging than in uncon

69 Therefore, although most somatic mutations are localized in the noncoding cancer

70 Somatic mutations are major genetic contributors to canc

71 Furthermore, these motifs together with somatic mutations are predictive of cancer subtypes and

72 The majority of somatic mutations are shared between primary tumors and

73 RNA, methylation, copy number variations and somatic mutations, are merged into a high-order tensor w

74 ypes with analysis of nested spontaneous DNA somatic mutations as cell lineage markers, identified fr

75 Cancer cells accumulate somatic mutations as result of DNA damage, inaccurate re

76 We therefore suggest that somatic mutations associated with blood cancers may resu

77 -genome sequencing have revealed millions of somatic mutations associated with different human cancer

78 by exon 10 of the MPL gene, is a hotspot for somatic mutations associated with myeloproliferative neo

79 several application examples, including top somatic mutations associated with the most extensive exp

80 In fact, we find that the number of somatic mutations at diagnosis is weakly correlated with

81 Our somatic mutation based model is likely to be more robust

82 P3, KMT2D, and TRAF3 as recurrent targets of somatic mutation based on their high incidence across st

83 lucidated signaling pathways associated with somatic mutations based on mutation-phosphorylation corr

84 Also, the somatic mutation burden was assessed.

85 Cancer genomes contain large numbers of somatic mutations but few of these mutations drive tumor

86 ti-centric disease using the recall-rates of somatic mutations but find that difficult because their

87 ) memory B cells that contain a high load of somatic mutations but lack expression of classical memor

88 y cell in the human body has a unique set of somatic mutations, but it remains difficult to comprehen

89 says, and had accumulated significantly more somatic mutations, but were predominantly non-neutralizi

90 Although acquisition of leukemia-associated somatic mutations by 1 or more hematopoietic stem cells

91 r Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES

92 y T cells targeting unique as well as shared somatic mutations can be detected in the peripheral bloo

93 Many disease-causing somatic mutations can initiate clonal growth prior to th

94 t research shows that potentially cancerous, somatic mutations can reside in normal cells.

95 Somatic mutations can result in the formation of neoanti

96 However, G > A somatic mutation carriers had more prolonged DFS and OS.

97 in data such as gene expression profiles or somatic mutation catalogs from tumor cells.

98 nosis-related lncRNA biomarkers; (ii) 11 418 somatic mutation-ceRNA events from TCGA and COSMIC; (iii

99 Clonally expanded blood cells that contain somatic mutations (clonal haematopoiesis) are commonly a

100 profile analysis of these tumors identified somatic mutations combined with loss-of-heterozygosity i

101 Somatic mutations, copy-number alterations, mutation loa

102 Tested on somatic mutations, CScape-somatic outperforms alternativ

103 Applications to somatic mutation data, DNA methylation data and gene exp

104 iants (SNVs) are shared between germline and somatic mutation databases, such as between the gnomAD d

105 ly associated with PCa risk heritability and somatic mutation density.

106 by inspecting over 2.5 million nonsynonymous somatic mutations derived from 6,789 tumor exomes across

107 Finally, the introduction of Mcl-1 TMD somatic mutations detected in cancer patients alters the

108 Combining aneuploidy with somatic mutation detection and eight standard protein bi

109 It can be used universally as a stand-alone somatic mutation detection method or with an ensemble of

110 st convolutional neural network approach for somatic mutation detection, which significantly outperfo

111 tible with downstream statistical models for somatic mutation detection.

112 These data indicate that non-coding somatic mutations disrupt the PAX8 transcriptional netwo

113 ferent mutational processes lead to distinct somatic mutation distributions where certain processes g

114 richer, a flexible toolset for investigating somatic mutation enrichment in both coding and non-codin

115 ulate feature-level and local, or "hotspot," somatic mutation enrichment statistics.

116 flexible software package for investigating somatic mutation enrichment that is implemented in Pytho

117 However, the global patterns of somatic mutations, especially non-coding mutations, and

118 Targeting 'neoantigens'-the somatic mutations expressed only by tumor cells-might en

119 We applied mutSignatures to analyze somatic mutations found in smoking-related cancer datase

120 nd attenuated isoLG adducts, DNA damage, and somatic mutation frequency.

121 mpose mutational signatures using 52,671,908 somatic mutations from 2780 highly curated cancer genome

122 rized mutational signatures using 84,729,690 somatic mutations from 4,645 whole-genome and 19,184 exo

123 nents and characterized their cancer-derived somatic mutations from an evolutionary perspective.

124 Various tools have been developed to detect somatic mutations from cancer genome sequencing data by

125 ained in the transcriptome to uniformly call somatic mutations from over 7500 tissue samples, represe

126 Analysis of somatic mutations from tumor whole exomes has fueled dis

127 tion of CLM/EHD is unclear and the impact of somatic mutations has not been reported.

128 Multiple signatures of somatic mutations have been identified in cancer genomes

129 In addition, we show that cancer somatic mutations have different effects on TF binding s

130 Millions of somatic mutations have recently been discovered in cance

131 in neuroblastoma and suggest that noncoding somatic mutations have relevant implications in neurobla

132 ons, making the system suitable for modeling somatic mutations identified in humans.

133 ral variation, the integration of HPV16, and somatic mutation in 96 cervical cancer samples from Guat

134 segments of the genome, are a common type of somatic mutation in cancer.

135 d be sequenced, only half showed the p.S745L somatic mutation in contrast to 100% of the familial cys

136 We identify the same hotspot somatic mutation in splicing factor 3 subunit B1 (SF3B1(

137 In addition to this specific somatic mutation in their tumors, 16 of the 17 subjects

138 Accumulation and selection of somatic mutations in a Darwinian framework result in int

139 urden (TMB) is a measure of the abundance of somatic mutations in a tumor, which has been shown to be

140 We called somatic mutations in airway brush samples from medium-co

141 amples, which confirms that the germline and somatic mutations in all seven samples exist in trans co

142 MMR genes with risk of adenoma and CRC, and somatic mutations in APC and CTNNB1 in colorectal tumors

143 n MMR genes and risks of adenoma and CRC and somatic mutations in APC and CTNNB1 in tumors in an inte

144 s in MSH2, and 3 with mutations in MSH6) for somatic mutations in APC and CTNNB1.

145 Somatic mutations in APC were found in 75% of tumors fro

146 clonal hematopoiesis (CH), a state in which somatic mutations in blood cells cause an expanded popul

147 dependent Hh signaling in human cancers with somatic mutations in both TP53 and RB1.

148 CpG island methylator phenotype (CIMP), and somatic mutations in BRAF and KRAS genes, and 7,869 cont

149 tudy was to evaluate the occurrence of LRRK2 somatic mutations in breast cancer and the clinicopathol

150 cer Genome Atlas (TCGA) and the Catalogue Of Somatic Mutations In Cancer (COSMIC) data sets.

151 Catalogue of Somatic Mutations in Cancer (COSMIC) database ctDNA muta

152 hole-genome duplications (WGDs) are frequent somatic mutations in cancer but their quantification fro

153 Clinical sequencing aims to identify somatic mutations in cancer cells for accurate diagnosis

154 Somatic mutations in cancer genomes are caused by multip

155 Somatic mutations in cfDNA were detected using next gene

156 this large study provides deep insights into somatic mutations in CRC, and their potential relationsh

157 ACPs are driven by somatic mutations in CTNNB1 (encoding beta-catenin) that

158 Somatic mutations in CTNNB1 were found in 50% of tumors

159 Somatic mutations in driver genes may ultimately lead to

160 We exhaustively evaluated somatic mutations in each patient's genome and agnostica

161 cular subtypes and higher prevalence of TP53 somatic mutations in ER+ Asian breast tumours.

162 and cancer has led to greater awareness that somatic mutations in factors involved in ribosome biogen

163 markedly on the basis of findings concerning somatic mutations in genes known to be associated with m

164 terized by the positive selection of certain somatic mutations in haematopoietic stem cells in ageing

165 Somatic mutations in healthy tissues contribute to aging

166 rapidly interrogate the functional impact of somatic mutations in human cancers.

167 the regulatory effects of embedded noncoding somatic mutations in human carcinogenesis.

168 is caused by genetic mutations, but not all somatic mutations in human DNA drive the emergence or gr

169 in our capability to quantitatively analyze somatic mutations in human tissue in relation to aging a

170 Though recurrent somatic mutations in IMSCTs were rare, we identified NF2

171 rsor ALL, the murine pro-B1 ALL had acquired somatic mutations in Jak kinase genes.

172 Somatic mutations in JAK2, CALR, and MPL have been descr

173 clonal expansion of hematopoietic cells with somatic mutations in leukemogenic genes was associated w

174 y as key pathways affected by acquisition of somatic mutations in MDS.

175 ay field epithelium exhibited a total of 269 somatic mutations in most patients (n = 36) including ke

176 mechanistic interpretation for several rare somatic mutations in multi-gene oncodrivers, and offers

177 loproliferative neoplasms (MDSs/MPNs) harbor somatic mutations in myeloid-related genes, but still, c

178 gs reveal that the transcriptional output of somatic mutations in myeloproliferative neoplasms is dep

179 To study somatic mutations in non-neoplastic tissues, we develope

180 ely clarified, whereas little is known about somatic mutations in noncoding DNA and their role in dri

181 rates, patterns, causes and consequences of somatic mutations in normal cells is limited.

182 Recent studies have started to map somatic mutations in normal human tissues, and here we d

183 h implicated in aging as early as the 1950s, somatic mutations in normal tissue have been difficult t

184 The distribution of somatic mutations in nucleosomes shows the opposite asym

185 Somatic mutations in p53, which inactivate the tumour-su

186 tem, CRISPR-TSKO, enabling the generation of somatic mutations in particular plant cell types, tissue

187 Somatic mutations in PBRM1 and KDM5C associate with high

188 ding Lysine-specific demethylase 6A, carries somatic mutations in PDAC.

189 ldering inflammation, adaptive immunity, and somatic mutations in promoting or suppressing malignant

190 ret the functional significance of noncoding somatic mutations in promoting tumorigenesis.

191 on, increased protein secretion demands, and somatic mutations in proteins handled by the secretory p

192 s were integrated with ENCODE data to locate somatic mutations in regulatory elements specifically ac

193 cute myeloid leukemia (AML) for germline and somatic mutations in RUNX family transcription factor 1

194 While splicing changes caused by somatic mutations in SF3B1 are known, identifying full-l

195 termining altered isoform expression include somatic mutations in splice regulatory sites or altered

196 subtype associated with hypermethylation and somatic mutations in TET2, DNMT3B, IDH1 and BRAF.

197 e majority of colorectal cancer cases due to somatic mutations in the adenomatous polyposis coli (APC

198 We also find that the majority of somatic mutations in the cell-free DNA (cfDNA) of patien

199 Sporadic pilomatricomas commonly have somatic mutations in the gene CTNNB1, but causative gene

200 umarate occur in human malignancies owing to somatic mutations in the isocitrate dehydrogenase-1 or -

201 Somatic mutations in the mitochondrial genome (mtDNA) ha

202 The presence of somatic mutations in the peripheral blood is termed clon

203 y manifest extranodal distribution and carry somatic mutations in the poorly characterized gene TBL1X

204 Somatic mutations in the RNase IIIb domain of DICER1 ari

205 d gene, defined as two or more nonsynonymous somatic mutations in the same gene and tumour.

206 ework has significantly expanded our view of somatic mutations in the vast noncoding genome, uncovere

207 these neutralized the virus, albeit with few somatic mutations in their variable domain sequences.

208 Many of the genes disrupted by somatic mutations in these diseases (for example, TP53,

209 ns poorly defined for reasons including that somatic mutations in these genes are common in blood can

210 n non-BRCA1/2 HR-related genes (cohort 1) or somatic mutations in these genes or BRCA1/2 (cohort 2).

211 The somatic mutations in this cancer record its phylogeograp

212 We identified 671 somatic mutations in tumors from African Americans and 7

213 ons in tumors from African Americans and 762 somatic mutations in tumors in Caucasians.

214 tomatic COVID-19 disease, harbored increased somatic mutations in virus-specific memory B cell antibo

215 st broad sets of quantitative information on somatic mutations in vivo necessary to gain insight into

216 generation sequencing has revealed recurring somatic mutations in Waldenstrom macroglobulinemia (WM),

217 d 1,900 splicing alterations associated with somatic mutations, including the formation of exons with

218 ab1 sequence has a relatively low number of somatic mutations, indicating that ab1-like antibodies c

219 portantly, the LAR subtype showed more ERBB2 somatic mutations, infrequent mutational signature 3 and

220 Here, we systematically interrogated somatic mutations involved in immune signaling that alte

221 tralization potential indicating the minimal somatic mutation is needed for potently neutralizing ant

222 Accurate detection of somatic mutations is a crucial step toward understanding

223 cer neoantigens generated by tumor-exclusive somatic mutations is an attractive yet challenging strat

224 ted with improved survival, presence of TP53 somatic mutations is associated with poorer survival in

225 tinguish germline (inherited or de novo) and somatic mutations is often limited by the laboratory ana

226 Accurate detection of somatic mutations is still a challenge in cancer analysi

227 mes and the underlying factors that generate somatic mutations is therefore crucial for developing no

228 presence of subpopulations of cells bearing somatic mutations, is associated with disease and aging

229 th marrow hypoplasia and monosomy 7, but the somatic mutation landscape was indistinct from unselecte

230 ge in human lymphomagenesis and a cascade of somatic mutations leading to an iconic pathogenic autoan

231 Somatic mutations leading to clonal hematopoiesis have b

232 Clones with normalizing somatic mutations may have limited transformation potent

233 Although LN01 carries a high load of somatic mutations, most key residues interacting with th

234 ing on the cumulative signal of thousands of somatic mutations observed in solid malignancies, with T

235 g breast cancer, it is unknown whether LRRK2 somatic mutations occur and are associated with breast c

236 een clearly defined, and genetic testing for somatic mutation of MYD88L265P is a useful tool for diff

237 mbocythemia or primary myelofibrosis carry a somatic mutation of the calreticulin gene (CALR), the ge

238 Somatic mutation of the protein phosphatase 2A (PP2A) Aa

239 Noncoding somatic mutations of 151 neuroblastomas were integrated

240 Most frequent somatic mutations of APE2 appear in uterus (2.89%) and s

241 l malignancies, which is often the result of somatic mutations of chromatin regulators.

242 ators or MCs themselves. Finding familial or somatic mutations of genes that cause MCs to be hyperact

243 CRISPR/Cas9 gene editing was used to produce somatic mutations of OTX2 in the chick retina and identi

244 Somatic mutations of Tet-methylcytosine-dioxygenase-2 (T

245 mal growth factor receptor (EGFR) because of somatic mutations of the EGFR gene is commonly observed

246 l and 3D chromatin signatures and effects of somatic mutations on regulatory elements.

247 ese findings identify progression-associated somatic mutations, oncogenic pathways, and association b

248 adult cancers, yet the paucity of recurrent somatic mutations or activated oncogenes in pediatric ca

249 Somatic mutations outside of an enzyme active site can t

250 Cancer arises through the accumulation of somatic mutations over time.

251 tify likely disease-causing chains involving somatic mutations, pathway activities and patient outcom

252 The number of somatic mutations per rearrangement was also higher in t

253 Lacking highly recurrent somatic mutations, PFA ependymomas are proposed to be ep

254 The accumulation of somatic mutations plays critical roles in cancer develop

255 nisms in the colitis-affected colon and that somatic mutations potentially play a causal role in IBD

256 Comparing the distribution of somatic mutations predicted by our model to the actual d

257 by a single cell, then it inherits only the somatic mutations present in the founding cell, so that

258 The increased somatic mutation prevalence in the histone modifying gen

259 Overlap between the somatic mutation profiles of canine OMM and human mucosa

260 Here, we examined the association of somatic mutation profiles with nonrecurrent disease (GO,

261 C covers all the genetic mechanisms by which somatic mutations promote cancer, including non-coding m

262 netic changes with age, but it is unknown if somatic mutations promote clonal expansion of non-malign

263 Beyond germline and somatic mutations promoting constitutive SHH signaling,

264 riant showed association with CRC and a high somatic mutation rate in cancer tissues.

265 mplementarity-determining region loops, high somatic mutation rates and polyreactivity.

266 story of a tumor's subclonal evolution using somatic mutation read counts across multiple samples.

267 BAMSE uses somatic mutation read counts as input and can leverage m

268 ts and a decreased prevalence of the p.S745L somatic mutation relative to familial trichilemmal cysts

269 Somatic mutations result from processes related to DNA r

270 Here, we integrate DNA copy number, somatic mutations, RNA-sequencing, and expression proteo

271 pathogenic germline mutations by genotyping somatic mutations shared between tumors and blood.

272 d genes (gHFI) determines which and how many somatic mutations (sM) must occur for malignant transfor

273 nts with primary colorectal cancer and known somatic mutation status by next-generation sequencing wh

274 unity in MuSK MG through the accumulation of somatic mutations such that monovalent IgG4 Fab-arm-exch

275 in which both twins harbored identical rare somatic mutations, suggesting a shared cell of origin.

276 transmissible, but not in annuals, in which somatic mutations tend not to be transmissible.

277 The functions of somatic mutations that act as riboSNitches in cancer dev

278 It requires acquisition of multiple somatic mutations that collectively cause a malignant ph

279 icantly associated with older age, male sex, somatic mutations that impair the DNA damage response, a

280 The age-related acquisition of somatic mutations that lead to clonal expansion in regen

281 Cancer is caused by the accumulation of somatic mutations that lead to the formation of distinct

282 nsively studied, little is known about those somatic mutations that occur at the non-coding regions w

283 niche cells may facilitate the occurrence of somatic mutations, their selection, and subsequent clona

284 from the perspective of the still hegemonic somatic mutation theory (SMT) and its variants.

285 ld help elucidate the contribution of mosaic somatic mutations to the origin and development of disea

286 o a variety of molecular variables including somatic mutations, transcription factors (TFs), microRNA

287 ions of subclonal architecture and timing of somatic mutations vary extensively across pipelines.

288 to Knudsen's two hit hypothesis, the p.S745L somatic mutation was always on the same chromosome as th

289 e-wide distribution and functional impact of somatic mutations, we leverage the genomic information c

290 l information and genomic profiles including somatic mutations were also obtained.

291 studies, the large majority of germline and somatic mutations were found in BRCA1/2 (21%) and TP53 (

292 human anti-AQP4 autoantibodies that acquired somatic mutations were reverted back to their unmutated

293 arlier age of diagnosis, and a lower rate of somatic mutation, whereas D3-positive tumors were less l

294 10(-3)) of NGS obscure the true abundance of somatic mutations, which can exist at per-nucleotide fre

295 most approaches require detection of nuclear somatic mutations, which have high error rates, limited

296 They had undergone minimal somatic mutation with limited clonal expansion, and thre

297 rgely driven by a relatively small number of somatic mutations with critical functional impacts, so-c

298 cells, thus paving the way to directly link somatic mutations with resulting transcriptional phenoty

299 sequencing efforts have uncovered recurrent somatic mutations within RNA splicing factors, including

300 specific molecular features have focused on somatic mutations within the coding regions of the genom