ライフサイエンスコーパス: somatic mutation

1 f 214 (93%) CMML patients carried at least 1 somatic mutation.

2 repair contain exceptionally high numbers of somatic mutations.

3 nv trimers, and accumulate relatively modest somatic mutations.

4 young children and appears to lack recurrent somatic mutations.

5 esence of limited negative selection against somatic mutations.

6 nd treatment strategies informed by acquired somatic mutations.

7 autologous gene therapies targeting private somatic mutations.

8 ich in turn limit the accumulation of lethal somatic mutations.

9 L pairs harbored identical or near-identical somatic mutations.

10 was indistinguishable from those with purely somatic mutations.

11 factors are among the most common targets of somatic mutations.

12 tage and the mutational processes generating somatic mutations.

13 copy-number alterations and highly recurrent somatic mutations.

14 iction of viral infection, and generation of somatic mutations.

15 eveloping noninvasive imaging biomarkers for somatic mutations.

16 showed a specific spectrum of heterogeneous somatic mutations.

17 the sensitivity required to reliably detect somatic mutations.

18 ell as oncogenic events, including identical somatic mutations.

19 ship between these phenotypes and underlying somatic mutations.

20 ncing, we validate the concordance of clonal somatic mutations (88%), copy number alterations (80%),

21 Somatic mutations accumulate from sequence-specific proc

22 Somatic mutations accumulate in human cells throughout l

23 1 promoter methylation correlated with SETD2 somatic mutations across and within spatially distinct r

24 ghput sequencing has identified thousands of somatic mutations across dozens of cancers, and there is

25 -centric' method for identifying clusters of somatic mutations across entire gene families using prot

26 a better platform for functional analysis of somatic mutations altering miRNA-ceRNA interactions.

27 Integrated prognostic models incorporating somatic mutation analyses may outperform prediction base

28 cedure as a firm foundation for standardized somatic-mutation analysis in single-cell genomics.

29 Cancer develops as a result of somatic mutation and clonal selection, but quantitative

30 tion burden at diagnosis, a subset with high somatic mutation and lower epiallele burdens at diagnosi

31 aberrant copy number of HR genes rather than somatic mutation and other genomic features.

32 these antibodies demonstrate high degrees of somatic mutation and other unique characteristics that m

33 zed that congenital hemangiomas arise due to somatic mutation and performed massively parallel mRNA s

34 esigned immunogens can induce high levels of somatic mutation and shepherd antibody maturation to pro

35 ning confirmed elicitation of high levels of somatic mutation and tier-2-neutralizing antibodies rese

36 We identify somatic mutations and copy number alterations significan

37 Multiple somatic mutations and copy-number alterations in genes t

38 We analyzed somatic mutations and DNA methylation in 5243 cancers of

39 lico validation of 293 previously identified somatic mutations and identify an additional 794 novel m

40 understanding of functional consequences of somatic mutations and identifying actionable mutations a

41 emonstrated significantly fewer UV signature somatic mutations and lower overall somatic mutational l

42 nd the processes that lead to acquisition of somatic mutations and the factors that influence subsequ

43 for examining the biological consequences of somatic mutations and the testing of therapeutic agents.

44 -institution trial of decitabine to identify somatic mutations and their relationships to clinical re

45 ase 1), corresponding to higher frequency of somatic mutations and tumor-specific neoantigens.

46 ry models, reconstructed ancestral states of somatic mutations, and inferred cancer chronograms to yi

47 lymphomas to define transgene architecture, somatic mutations, and structural alterations.

48 s heterogeneous, and various combinations of somatic mutations are associated with different clinical

49 upled to chromatin structure, we examine how somatic mutations are distributed across boundaries and

50 ility (ID) and autism spectrum disorder, and somatic mutations are linked to many cancers.

51 Cancer researchers have long recognized that somatic mutations are not uniformly distributed within g

52 ntibody is characterized by a high degree of somatic mutations as well as a 6 amino acid insertion wi

53 the SNV pattern differs between germline and somatic mutations as well as between synonymous and non-

54 The identification of novel somatic mutation associated with ECD enabled treatment w

55 ion and cortisol production in CPA, and that somatic mutations associated with CPA reduce DNA methyla

56 ontamination significantly impact calling of somatic mutations, because contaminant germline variants

57 This insertion generated, through somatic mutations, broadly reactive antibodies against R

58 a subset of AMLs with high epiallele and low somatic mutation burden at diagnosis, a subset with high

59 trated an increase in sensitivity in calling somatic mutations by combining cmDetect to two widely us

60 synthetic tumors in the ICGC-TCGA DREAM 8.5 Somatic Mutation Calling Challenge primarily because it

61 Cancer somatic mutations can generate neoantigens that distingu

62 ametogenesis occurs late in development, and somatic mutations can therefore be transmitted to the ne

63 ncer-enzyme-induced clusters of co-occurring somatic mutations caused by cytosine deamination.

64 SL and PTL, we characterized their recurrent somatic mutations, chromosomal rearrangements, copy numb

65 Whether somatic mutations contribute functional diversity to bra

66 hat simultaneously assesses gene expression, somatic mutation, copy number variation, and methylation

67 ive' genes which were frequently targeted by somatic mutations, copy number alterations, DE and AS, i

68 n 11,289 tumors from 29 tissues (integrating somatic mutations, copy number alterations, DNA methylat

69 ith distinctive genomic features in terms of somatic mutations, copy-number changes or structural var

70 Tested on somatic mutations, CScape tends to outperform alternativ

71 h, the large amounts of germline variant and somatic mutation data that have been generated from GWAS

72 is generated by integrating the CNV data and somatic mutation data, and a mutation network is constru

73 Among published somatic mutation data, we found evidence of AFB1 exposur

74 Massive somatic mutations discovered by large cancer genome sequ

75 istinct genotypes, typically due to de novo, somatic mutation during embryogenesis.

76 DNA damage, potentiating the acquisition of somatic mutations during hormonal-induced expansion of t

77 gh a multitude of molecular events including somatic mutations, epigenetic alterations, and aberrant

78 alts and PARP inhibitors, the data regarding somatic mutation for prediction of drug sensitivity rema

79 ides positive supportive correlation between somatic mutations for VD-related genes and the TGF-beta

80 Here, we report somatic mutations found in ESCC from sequencing 10 whole

81 utations in cancer, yet efforts to correlate somatic mutations found in one or few individuals with f

82 BnAbs exhibit high somatic mutation frequencies, long third heavy-chain com

83 5% mutational frequency over the background somatic mutation frequency were calculated for each tumo

84 Strikingly, a compensatory FANCA somatic mutation from an "experiment of nature" in monoz

85 rom cancer patients' whole blood may contain somatic mutations from circulating tumor DNA (ctDNA) fra

86 ntibodies displayed the highest frequency of somatic mutation, further suggesting that human IL-6 is

87 ation and three of three patients with ERBB3 somatic mutations (G284R, V104M, and R103G) met PFS3.

88 er insights into the factors contributing to somatic mutation genotypes in melanoma, we collected cli

89 Somatic mutations have been extensively characterized in

90 creatic Cancer (FPC) susceptibility, and ATM somatic mutations have been identified in resected human

91 Somatic mutations have long been implicated in aging and

92 ase-substrate interaction modules altered by somatic mutations identified by KNMPx were significantly

93 ble relationship between DNA methylation and somatic mutations identified in CPA.

94 The impact of recurrent somatic mutations identified in the diseased clone in re

95 Analysis of somatic mutations impacting 94 genes was undertaken in a

96 Somatic mutation in ASXL1, RUNX1, or TP53 is independent

97 th heritable structural variation as well as somatic mutation in human genomes.

98 We identified new somatic mutation in MUC16 (A.k.a. CA-125), MUC12, MUC4,

99 ng and neurodegeneration are associated with somatic mutation in neurons; however, methodological hur

100 tumors); 100% of double somatic cases had a somatic mutation in PIK3CA (P < .0001 compared with othe

101 one of these samples, we identified a novel somatic mutation in RELA (E39Q).

102 tion of DNA mismatch repair (MMR) status and somatic mutation in the B-Raf proto-oncogene (c.1799T>A

103 gin for histiocytoses and demonstrate that a somatic mutation in the EMP lineage in mice can drive la

104 an early recurrent prostate cancer-specific somatic mutation in the Speckle-Type POZ protein (SPOP)

105 Tumor DNA was assessed for somatic mutations in 25 different genes.

106 We identify recurrent somatic mutations in 29 genes, including NF2 (18%), SETD

107 WES identified somatic mutations in 3 of 8 cases.

108 mine tumor samples collected before HSCT for somatic mutations in 34 recurrently mutated genes in mye

109 Somatic mosaicism refers to the existence of somatic mutations in a fraction of somatic cells in a si

110 ompartment as a result of the acquisition of somatic mutations in a single HSC that provides a select

111 KLF4, AKT1, PIK3CA, and SMO, we also report somatic mutations in AKT3, PIK3R1, PRKAR1A, and SUFU in

112 In particular, somatic mutations in ARID1A were seen in five of 14 pati

113 utation in all patients including actionable somatic mutations in ATM and MTOR.

114 eria; clinical information and annotation of somatic mutations in both driver and selected nondriver

115 In other cancer types, germline and/or somatic mutations in BRCA1 and/or BRCA2 (BRCA1/BRCA2) al

116 r recurrent ovarian cancers with germline or somatic mutations in BRCA1/2.

117 eration sequencing (NGS) genomic testing for somatic mutations in breast oncology has been slower tha

118 They found that somatic mutations in cancer are largely neutral, highlig

119 Somatic mutations in cancer can be translated into pepti

120 tations in 54% of the patients and recovered somatic mutations in cancer genes EGFR, PIK3CA, and TP53

121 COSMIC, the Catalogue of Somatic Mutations in Cancer is a high-resolution resourc

122 roximal sequences are frequently targeted by somatic mutations in cancer.

123 iated with Mendelian and orphan diseases, or somatic mutations in cancer.

124 ynamics across cell types and enrichment for somatic mutations in cancer.Spatial organization of the

125 Somatic mutations in candidate driver (CD) genes are tho

126 We identify an average of 14+/-5 somatic mutations in coding sequences of sorted monocyte

127 fications on the frequency of cancer causing somatic mutations in different cell types.

128 Using ultra-deep NGS, we identified somatic mutations in DNA extracted both from cell pellet

129 ssing this question is through inspection of somatic mutations in DNA of cancer samples from a cohort

130 Somatic mutations in DNMT3A are one of the most prevalen

131 individual with three PNs had different NF1 somatic mutations in each tumor.

132 Furthermore, in CPA with somatic mutations in either the catalytic subunit of pro

133 d confirmed on a patient-specific level that somatic mutations in epigenetic regulators and RNA splic

134 The disease is driven by somatic mutations in exon 9 of CALR or exon 10 of MPL or

135 X41 mutations both as germ line and acquired somatic mutations in families with multiple cases of lat

136 tion or germline mutations contain 2 or more somatic mutations in genes encoding mismatch repair (MMR

137 These populations frequently harbored somatic mutations in genes recurrently mutated in AML or

138 in in the Shh pathway, and four subjects had somatic mutations in GLI3, an Shh pathway gene associate

139 is associated with an increased frequency of somatic mutations in hematopoietic cells.

140 Clonal hematopoiesis results from somatic mutations in hematopoietic stem cells, which giv

141 Somatic mutations in IGH inherited from common ancestors

142 Somatic mutations in K-Ras are linked to 15-20% of all h

143 that are induced or repressed in relation to somatic mutations in key oncogenic driver genes.

144 ematopoiesis (CH), as evidenced by recurrent somatic mutations in leukemia-associated genes, commonly

145 In others, somatic mutations in leukocytes are found, but diagnosti

146 In summary, somatic mutations in MAP2K1 are a common cause of extrac

147 pipeline for assessing functional impacts of somatic mutations in miRNA seed regions.

148 ns, WES and WGS detected and ddPCR confirmed somatic mutations in mitogen activated protein kinase ki

149 8, DLK2, and KTN1, were also found to harbor somatic mutations in more than one individual, possibly

150 ly exclusive associations between EECTGs and somatic mutations in mutated genes, such as PIK3CA in br

151 as BRAF(V600E), suggests a possible role of somatic mutations in myeloid cells in neurodegeneration.

152 of (18)F-FDG PET-based radiomic features for somatic mutations in non-small cell lung cancer patients

153 ation and cancer growth, the significance of somatic mutations in other PI3K pathway genes is less cl

154 Together with recent identification of somatic mutations in p110alpha (encoded by PIK3CA), our

155 Here, we report the results of a search for somatic mutations in paired hamartoma- and leukocyte-der

156 1403 cases of CH by using barcodes of mosaic somatic mutations in peripheral blood, whether or not th

157 Somatic mutations in PIK3CA are frequently found in a nu

158 Three individuals had somatic mutations in PRKACA, which encodes a cAMP-depend

159 GTPase-impairing somatic mutations in RAS genes, such as KRAS(G12D), are

160 eq will aid to characterize the landscape of somatic mutations in research and clinical settings.

161 Somatic mutations in REV3L, the gene encoding the cataly

162 2-HG, mIDH2 allele burden, and co-occurring somatic mutations in sequential patient samples from the

163 Here we show that somatic mutations in SERPINB3 and SERPINB4 are associate

164 SIRT2's tumor-suppressive function in which somatic mutations in SIRT2 contribute to genomic instabi

165 ignant clones are characterized by recurrent somatic mutations in specific sets of genes, but the dir

166 Somatic mutations in spliceosome genes are detectable in

167 We discovered somatic mutations in TEK, the gene encoding TIE2, in 15

168 We show that somatic mutations in TET2, DNMT3A, ASXL1, and PPM1D are

169 Somatic mutations in the 3 driver genes, that is, JAK2,

170 an pancreatic ductal adenocarcinomas contain somatic mutations in the activin A receptor type IB (ACV

171 these experimental limitations by generating somatic mutations in the adult liver using CRISPR/Cas9,

172 is an age-related condition characterized by somatic mutations in the blood of otherwise healthy adul

173 Somatic mutations in the endoplasmic reticulum chaperone

174 Somatic mutations in the estrogen receptor alpha (ERalph

175 a rare histiocytic neoplasm associated with somatic mutations in the genes involved in the RAF/MEK/e

176 t B cells, potentially generated by aberrant somatic mutations in the germinal center, are rapidly el

177 gle expanded B-cell clone and carry distinct somatic mutations in the LAIR1 domain that abolish bindi

178 The updated database also includes a list of somatic mutations in the miRNA seed regions, which conta

179 Although somatic mutations in the PI3K pathway genes PIK3CA and P

180 Either of 2 somatic mutations in the potassium channel KCNJ5 (G151R

181 This approach revealed heterogeneous somatic mutations in the range of 3%-38% in individual t

182 are clonal myeloid diseases associated with somatic mutations in the RAS-MEK-ERK pathway such as BRA

183 aracterized by reduced positive selection of somatic mutations in the VH CDR and altered VH CDR3 phys

184 Although previous studies have characterized somatic mutations in this disease, a rigorous comparison

185 Somatic mutations in TP53 and NRAS are associated with t

186 Here, we analyze data on human cancers with somatic mutations in two of the major DNA polymerases, d

187 -deep, targeted gene sequencing could detect somatic mutations in uterine lavage fluid obtained from

188 generation sequencing has revealed recurring somatic mutations in Waldenstrom macroglobulinemia (WM).

189 e sequencing has identified highly prevalent somatic mutations including MYD88, CXCR4, and ARID1A in

190 Several somatic mutations including Stat3, Stat5b, and tumor nec

191 Somatic mutations, including point mutations and gene fu

192 for bulk-tumor sequencing data that clusters somatic mutations into clones and infers a phylogenetic

193 erestingly, their expressed IgV loci exhibit somatic mutations introduced by the activation-induced c

194 a mutational landscape characterized by few somatic mutations involving a subset of recurrent gene m

195 esult of clonal evolution of cells harboring somatic mutations is a universal mechanism occurring at

196 y promoter methylation, copy number loss, or somatic mutations is associated with defective MHC class

197 Detection of somatic mutations is one of the main goals of next gener

198 mbryos, our understanding of early embryonic somatic mutations is very limited.

199 ietic stem and progenitor cells that acquire somatic mutations, leading to disease and clonogenic evo

200 s, enzyme-driven processes that increase the somatic mutation load in sporadic cancers.

201 we found evidence of time-varying effects of somatic mutation load on PFS in this cohort (n = 25, p =

202 king increases cancer risk by increasing the somatic mutation load, although direct evidence for this

203 e, spatial clustering or predicted impact of somatic mutations, many remain undetected due to lack of

204 the first population to have a positive drug somatic mutation match.

205 locations or complex karyotypes and distinct somatic mutations may impact outcome after first-line ch

206 to that of genome, limiting the abundance of somatic mutations might explain how larger organisms cou

207 d 50.5 +/- 11.9 years) showed a high rate of somatic mutations (n = 128, 58.4%).

208 er elucidates the functional consequences of somatic mutations, narrows candidate nominations for dri

209 hese data, we identified clinically relevant somatic mutations, novel noncoding alterations, and muta

210 equences and structures, we demonstrate that somatic mutations occur frequently at position 83, with

211 uggest that oral immunotherapy can stimulate somatic mutation of allergen-specific IgG4.

212 Increasing somatic mutation of IgG4 members of a clone was seen in

213 D) are rare histiocytic disorders induced by somatic mutation of MAPK pathway genes.

214 Somatic mutations of ASXL1, RUNX1, and TP53 were indepen

215 dings included the discovery of germline and somatic mutations of BRCA1 associated protein-1 (BAP1) i

216 Somatic mutations of established clinical utility (categ

217 Recurrent somatic mutations of H3F3A in aggressive pediatric high-

218 The identification of somatic mutations of JAK2, CALR, or MPL, found in about

219 Somatic mutations of NFE2L2 leading to NRF2 accumulation

220 Somatic mutations of pre-mRNA splicing factors recur amo

221 a heterogeneous disease, and many cases show somatic mutations of SPOP.

222 To search for somatic mutations of the HRAS, KRAS, NRAS, BRAF, and EGF

223 The primary end point was the incidence of somatic mutations of the RAS, BRAF, and EGFR genes and a

224 t one or more low abundant, gain-of-function somatic mutations of the same 5 gene families damage the

225 We discovered recurrent somatic mutations of ZBTB7A in multiple types of human c

226 used by double (cis) mutations, that is, two somatic mutations on the same allele of the gene.

227 in prostate adenocarcinoma (PC), via either somatic mutations or mRNA downregulation, suggesting an

228 are understood to be the product of multiple somatic mutations or other rate-limiting events.

229 ssion classifier analysis and evaluation for somatic mutations or rearrangements that are commonly fo

230 educed diversity is most probably related to somatic mutations or to changes in the microenvironmenta

231 ber variations (CNV), gene- or pathway-level somatic mutations, or germline polymorphisms (SNP) are a

232 o identified frequent Ras pathway activating somatic mutations outside of these previously reported r

233 The total number of somatic mutations (p = 0.0039) and the fraction of trans

234 cation plan of key experiments from "Diverse somatic mutation patterns and pathway alterations in hum

235 on signatures, DNA copy number patterns, and somatic mutation patterns were highly similar across eac

236 methylation in specific genomic regions and somatic mutation patterns.

237 An average of 3.6 +/- 1.2 somatic mutations per exome was identified in HSPCs from

238 The median number of somatic mutations per sample, including NF1, was one (ra

239 However, factors other than somatic mutations play an important role in disease init

240 reprogramming also enables the discovery of somatic mutations present in individual donor cells, whi

241 uencing, have identified gene expression and somatic mutation profile subsets of TNBC that reflect bi

242 ic datasets to determine the proportion with somatic mutation profiles amenable to either immunothera

243 Notably, the somatic mutation R76C of hSH3BGRL can similarly act as h

244 ic or homoplasmic mutations, suggesting that somatic mutations randomly arise within individual cells

245 Using the somatic mutation rate and eIF4B protein level, we identi

246 rmine if there are racial differences in the somatic mutation rate and gene expression of ccRCC tumor

247 en species, but much less is known about the somatic mutation rate in multicellular organisms, which

248 The results indicate that the somatic mutation rate is almost two orders of magnitude

249 n signature, featuring a 2.88-fold increased somatic mutation rate, depletion of context-specific C>T

250 ain Outcomes and Measures: The comparison of somatic mutation rates and differences in RNA expression

251 and were examined for racial differences in somatic mutation rates and RNA expression.

252 euron genomics enables direct measurement of somatic mutation rates in human brain and promises to an

253 Here, we present data on somatic mutation rates in mice and humans, obtained by s

254 ecific events and shared at least 50% of its somatic mutation repertoire with the primary tumor, and

255 an algorithm to predict NMD and apply it on somatic mutations reported in The Cancer Genome Atlas.

256 cancer genomes accumulate a large number of somatic mutations resulting from normal DNA damage and r

257 harmacogenomic interactions by incorporating somatic mutation-rewired signaling networks in 1,001 can

258 Clonal frequency analyses of somatic mutations show that the metastases have a monocl

259 Importantly, the somatic mutation signature in tumors with one germline a

260 rogeneity with the accumulation of nonrandom somatic mutations specifically in GPCR, PI3K-Akt and FGF

261 Here, using synonymous somatic mutations (SSMs) identified in over 4000 tumours

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

263 Somatic mutations such as CARD11 may have an impact on r

264 5 neutralizing mAbs possessed low numbers of somatic mutations, suggesting the clones arose from naiv

265 on Ki67 change), we find significantly more somatic mutations than good responders.

266 hance for patients and had fewer genome-wide somatic mutations than those with a mutation burden on t

267 Self-reactivity was removed by a single somatic mutation that paradoxically decreased binding to

268 Conversely, somatic mutations that affect genes suitable for targete

269 ve and well powered, returning long lists of somatic mutations that can be difficult to sort and inte

270 The identification of somatic mutations that can drive cancer has led to the d

271 Moreover, somatic mutations that have been identified in human CRC

272 anded the scope of the database by including somatic mutations that impact the interactions between m

273 ing technologies have allowed us to identify somatic mutations that initiate BE and track genetic cha

274 Somatic mutations that lead to constitutive activation o

275 upport the hypothesis that the occurrence of somatic mutations that may reconstitute genetic defects

276 evelopmental disorders caused by germline or somatic mutations that occur in genes regulating the PI3

277 , detailed analyses of spontaneously arising somatic mutations that recover CD247, and thus TCR expre

278 for various combinations of IPSS-R risk and somatic mutations, the 5-year probability of survival af

279 The number of somatic mutations, the burden of genomic copy number alt

280 Furthermore, although some IgAs acquired somatic mutations, these did not substantially influence

281 We identified 224 somatic mutations throughout our cohort, of which 216 we

282 rdinated coalition to systematically connect somatic mutations to clinical and pharmacologic data wil

283 The contribution of somatic mutations to metastasis of colorectal cancers is

284 We have mapped 388 247 somatic mutations to the experimentally identified miRNA

285 atients underwent searches for germ line and somatic mutations using next-generation sequencing techn

286 ion (VAF), used to measure the prevalence of somatic mutations, varied widely at diagnosis.

287 Non-NF1 somatic mutation verification was performed using the Am

288 Multiple somatic mutations (VHL, PBRM1, SETD2, KDM5C, TP53, BAP1,

289 Going beyond somatic mutations, we hypothesized that APOBEC3-followin

290 Somatic mutations were also identified in five of six in

291 No somatic mutations were noted at this locus in 114 blood-

292 Somatic mutations were tracked to CD34(+) hematopoietic

293 The accumulation of somatic mutations with age-which we term genosenium-show

294 We found an average of 35.8% heterogeneous somatic mutations with strong evidence of ITH.

295 Integrative analysis of somatic mutations with transcriptional states prompts th

296 hScore quantifies the level of enrichment of somatic mutations within curated pathways, applying a no

297 Somatic mutations within noncoding genomic regions that

298 Somatic mutations within the antibody variable domains a

299 Somatic mutations within the immunoglobulin variable reg

300 We report significant enrichment of somatic mutations within the set of regulatory elements