ライフサイエンスコーパス: mutational burden

1 iduals with BBS, irrespective of their known mutational burden.

2 ten resulting in GBM characterized by a high mutational burden.

3 t TP53 gain-of-function mutations and a high mutational burden.

4 sequencing data of large cohorts with a high mutational burden.

5 oms, which show gender-specific liability to mutational burden.

6 complished without a substantial increase in mutational burden.

7 tionary history, and organisms' tolerance of mutational burden.

8 tivity correlated negatively with increasing mutational burden.

9 enger rates modeled in relationship to tumor mutational burden.

10 microsatellite instability and a high tumour mutational burden.

11 outcomes than IFNG gene expression or tumour mutational burden.

12 pembrolizumab, as well as testing for tumor mutational burden.

13 genomically stable landscape and lower tumor mutational burden.

14 thelial malignancy, often with a high tumour mutational burden.

15 olet light damage, resulting in a high tumor mutational burden.

16 HRD), mismatch repair deficiency, and tumour mutational burden.

17 I IFN signaling, MHC-I expression, and tumor mutational burden.

18 e non-synonymous single nucleotide variation mutational burden.

19 of targetable antigens for cancers with low mutational burden.

20 anti-PD(L)1 responsive, despite VP-MCC's low mutational burden.

21 d the indicated PD-L1 test, as well as Tumor Mutational Burden.

22 ationship was observed between PFS and tumor mutational burden.

23 d be applicable to other tumors with unideal mutational burden.

24 racterized by an overall low copy number and mutational burden.

25 ution of MG to genome instability and global mutational burden.

26 se to checkpoint inhibitors than the tumors' mutational burden.

27 s, mismatch repair mutations and high tumour mutational burden.

28 ing a progressive increase in a UV signature mutational burden.

29 e to checkpoint therapy independent of tumor mutational burden.

30 gically meaningful subtypes defined by tumor mutational burden.

31 urvival benefit in the setting of high tumor mutational burden.

32 essiveness and immunity independent of tumor mutational burden.

33 ive sweeps, lower differentiation, and lower mutational burden.

34 iated with ICB response independent of tumor mutational burden.

35 been the most effective in tumors with high mutational burden.

36 al immunity, were strongly linked to overall mutational burden.

37 diversity, lower differentiation and higher mutational burden.

38 er types and amplified tumors have increased mutational burden.

39 s recombination deficiency (13%), high tumor mutational burden (11%) or specific alterations (24%) li

40 ochemistry (86%, P = 4.6 x 10(-3)), or tumor mutational burden (80%, P = 9.1 x 10(-4)).

41 stability (7.6% [13 of 170]), and high tumor mutational burden (9.5% [30 of 317]) were all enriched i

42 populations in the UK has a fourfold greater mutational burden, a predominant UV mutational signature

43 While injury is associated with mutational burden, a recent study highlights that not al

44 n TDP43 expression, MMR gene expression, and mutational burden across multiple cancers.

45 the tumor's main driver mutations, the tumor mutational burden, activity patterns of core cancer-rele

46 e emerging from CRISPR-based screens of high mutational-burden adult cancers.

47 Tumour mutational burden alone or in combination with IFNgamma

48 Compared to tumor mutational burden alone, CIRCLE led to superior predicti

49 position of the mutation in the protein, the mutational burden among healthy individuals and membersh

50 By using mutational burden analyses in this large cohort of proba

51 t cells mutated for DIS3 harbor an increased mutational burden and a pervasive overexpression of pro-

52 In a post hoc analysis, scores for tumor mutational burden and an 18-gene T cell-inflamed gene ex

53 al cancers (CRCs) are characterized by a low mutational burden and an immune-cold microenvironment, l

54 gene mutation was associated with high tumor mutational burden and clinical response to checkpoint bl

55 astatic breast cancers showed an increase in mutational burden and clonal diversity compared to early

56 cers, particularly tumors that harbor a high mutational burden and consequently express a high abunda

57 CCL21 expression correlated with increased mutational burden and cytolytic activity across human ca

58 ong other factors, it is shaped by the tumor mutational burden and defects in DNA repair enzymes.

59 rrent tumor models, accompanied by increased mutational burden and differential transcript and protei

60 esence of POLE mutation associates with high mutational burden and elevated expression of several imm

61 STAT3-mutant patients exhibited increased mutational burden and enrichment of a mutational signatu

62 etabolic activity changes vs. the pronounced mutational burden and ESCC-associated metabolic changes

63 gree of tumor "foreignness," as reflected by mutational burden and expression of viral genes, (2) the

64 c cancers are generally characterized by low mutational burden and few recurrently mutated genes.

65 Given the high UV-induced mutational burden and immune-repressive TME seen in cSCC

66 OS/mono) cases harbored significantly higher mutational burden and inferred neoantigen load, suggesti

67 h acute myeloid leukemia (AML) may depend on mutational burden and its interaction with other mutatio

68 Stem cells from normal livers have a low mutational burden and limited diversity of signatures(8)

69 Although ASD females showed higher mutational burden and lower cognition, the excess mutati

70 ver tumor-specific determinants (e.g., tumor mutational burden and microsatellite instability) of res

71 One tumor from each cohort had high tumor mutational burden and microsatellite-instability with PM

72 hort-term survivors; this was independent of mutational burden and only weakly associated with T-cell

73 of survival even after accounting for tumor mutational burden and other molecular and clinical featu

74 y and effector T cell gene expression, tumor mutational burden and pre-surgery circulating tumor DNA

75 iatric brain tumors is hampered by their low mutational burden and scant tissue availability.

76 sively analyse the molecular determinants of mutational burden and signatures in 10,294 gliomas.

77 blockade and supports the diagnostic use of mutational burden and signatures in cancer.

78 tumour immunological activity, a high tumour mutational burden and specific characteristics of the gu

79 To study the link between mutational burden and survival, we analyzed survival eff

80 ression, allowing accurate prediction of the mutational burden and the occurrence of mutations in the

81 mologous recombination deficiency(3), tumour mutational burden and tumour heterogeneity scores(4), we

82 with increased tumor cell proliferation and mutational burden and was associated with advanced disea

83 Deep sequencing revealed similar mutational burdens and signatures in normal and mutant c

84 e to changes in gene expression, metabolism, mutational burden, and cellularity in the tumor.

85 rogeneity ranging from responses to therapy, mutational burden, and clonal evolution.

86 and, when possible, PD-L1 expression, tumor mutational burden, and microsatellite instability status

87 or biomarker, including PD-L1 content, tumor mutational burden, and microsatellite instability.

88 iagnosis, somatic mutation landscapes, tumor mutational burden, and microsatellite-instability status

89 olid tumours, most RCCs have only a moderate mutational burden, and paradoxically, high levels of tum

90 nding of MMR proteins to PCNA, increases the mutational burden, and promotes microsatellite instabili

91 The cell cycle subtype showed highest mutational burden (ANOVA p < 0.01) and the smallest amou

92 ate is largely due to the action of RIP, the mutational burden appears to be RIP-associated but not d

93 tosis and JAK2V617F mutational status and/or mutational burden are now under active investigation.

94 ing, and no significant differences in tumor mutational burden are observed between HER2-low and HER2

95 We found that tumor mutational burden as a predictor of response was confoun

96 This figure is comparable to the expected mutational burden associated with an additional 21 years

97 g cancer cell line, NCI-H209, to explore the mutational burden associated with tobacco smoking.

98 s, and the study of clonal heterogeneity and mutational burdens at single-cell resolution.

99 ed stress was associated with elevated tumor mutational burden (beta, 0.02 [95% CI, 0.01-0.04]; P = .

100 rate and selfish selection contribute to the mutational burden borne by the paternal germline.

101 e was independent of total CNV burden, total mutational burden, BRCA status, and open-source genome-w

102 A sequencing studies have revealed a massive mutational burden but have yet to illuminate mechanisms

103 ed with baseline free E2F activity and tumor mutational burden but not PD-L1 status.

104 AS-driven lung cancer with an elevated tumor mutational burden by expressing the human DNA cytosine d

105 ts detected in target cells, rather than the mutational burden carried by such DNAs, corresponded clo

106 Thus, tobacco smoking increases mutational burden, cell-to-cell heterogeneity and driver

107 allenging because of the massive UVR-induced mutational burden characteristic at all stages of this p

108 olid histological subtypes and with a higher mutational burden, chromosomal instability, and fraction

109 Whole-exome sequencing shows a low mutational burden, consistent with genomics studies, but

110 (6 families, 12.5%), indicating a potential mutational burden contributing to disease expression.

111 it contributes to genomic instability, tumor mutational burden, copy-number loss events, and clonal d

112 Tumor mutational burden correlates with improved survival and

113 assessing patient biomarkers including tumor mutational burden, cytokines, and PD-L1 expression.

114 antigens by tumor cells, rather than overall mutational burden, determines the response to checkpoint

115 lue, although blood-based measures of tumour mutational burden did not have predictive value in patie

116 TM, RB1, FANCC and ERCC2) or increased tumor mutational burden did not improve the positive predictiv

117 Other established biomarkers, such as tumor mutational burden, did not predict outcome, differentiat

118 rammed cell death ligand 1 (PD-L1) nor tumor mutational burden differentiated PFS in either study arm

119 However, the single-cell mutational burden distribution is over-dispersed compare

120 Single-cell mutational burden distributions allow a sample size inde

121 Besides increasing tumor mutational burden, DMBA exposure up-regulated Chemokine

122 at, compared to primary breast cancer, tumor mutational burden doubles, the relative contributions of

123 dysregulation in breast cancer, differential mutational burden downstream of DNA mismatch repair gene

124 cases, there were significant differences in mutational burden, driver mutations, mutational processe

125 nce to cancer immunotherapy, including tumor mutational burden (e.g., microsatellite instability), co

126 ith RP-mutant CLL also demonstrated a higher mutational burden, enriched for mutations that may dimin

127 ures that correlate with outcome, e.g., high mutational burden, ERCC2 mutations, and high APOBEC-A/ER

128 , oncoprotein ablation increased DEN-induced mutational burdens, especially in Shp2-deficient tumors.

129 y to develop in the context of a high tumour mutational burden (except in SC-O) which is most frequen

130 B cell lymphoma samples, cells with a higher mutational burden exhibit elevated B cell receptor signa

131 ive leukemia with a poor prognosis and a low mutational burden, exhibits substantial transcriptional

132 s may explain this diversity, with increased mutational burdens favoring reduced genome size and comp

133 The increased mutational burden for rare structural genomic variants i

134 d temporal divergence, and carried increased mutational burdens forward.

135 Lastly, we provide evidence of an increased mutational burden from double-strand breaks at conserved

136 te apoptosis and the removal of cells with a mutational burden from the population, thereby keeping t

137 We integrate analyses for driver mutations, mutational burden, global, arm-level and focal copy numb

138 inase gene rearrangements; 3.9% have a tumor mutational burden >=10 mut/Mb.

139 Mutational burden has been linked to complex disease, in

140 Generally, tumors with high mutational burdens have the potential to express greater

141 smatch repair deficient (MMR-D) and/or tumor mutational burden-high (TMB-H) endometrial cancers (ECs)

142 Higher mutational burden, higher T cell infiltration and positi

143 tastatic breast cancer (mBC) with high tumor mutational burden (HTMB) treated with pembrolizumab are

144 ata from cohorts of patients with high tumor mutational burden (HTMB, defined as >=9 mutations per me

145 A high tumour mutational burden (hypermutation) is observed in some gl

146 tegies with tumour-infiltrating lymphocytes, mutational burden, immune gene signatures, and multiplex

147 HDAC11 is correlated with tumor mutational burden in 11 cancer types and with microsatel

148 e-associated genes, and provide evidence for mutational burden in a biological pathway or network.

149 Responses were observed despite a low tumour mutational burden in all tumours, whereas chromosomal ge

150 encing data has illuminated the scope of the mutational burden in cancer genomes, identifying pattern

151 ve genes, we searched for highly significant mutational burden in candidate genes.

152 Moreover, the tumour mutational burden in ccRCC is relatively low, compared w

153 ure, targeted deep sequencing of lung cancer mutational burden in cell-free BAL fluid identifies more

154 8 mutations per Mb, equivalent to the median mutational burden in common leukaemias.

155 The average aggregate mutational burden in elderly subjects was 2 x 10(-4) mut

156 year prediagnosis) had significantly higher mutational burden in genes frequently mutated in ATL tha

157 enetic summary statistics that represent the mutational burden in genes with biological networks, suc

158 are inadequate, in part due to the low tumor mutational burden in genetically engineered mouse models

159 ecific prevalence of disease, as well as the mutational burden in healthy subjects.

160 a that the 'toxic' Y chromosome can create a mutational burden in males when genome-wide defense mech

161 ertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.

162 ell lymphoma (CTCL), contributing 52% of the mutational burden in mycosis fungoides and 23% in Sezary

163 Inflammation is linked to higher tumor mutational burden in non-adenoid cystic carcinoma histol

164 rare mutations and demonstrate that somatic mutational burden in normal human tissues can vary by se

165 with this finding, we observed a high tumor mutational burden in patients with histone mutations aff

166 ction plays a prominent role in reducing the mutational burden in populations.

167 ational signatures in whole exome, and tumor mutational burden in predicting NAC response.

168 y homologous recombination based on its high mutational burden in samples harbouring BRCA1 or BRCA2 m

169 ence of microsatellite instability and tumor mutational burden in SBA suggests a potential role for i

170 dvancing DNA analysis techniques to quantify mutational burden in sun-damaged skin and its reduction

171 Patients with tumour mutational burden in the lower two terciles seem to deri

172 Molecular profiling highlighted a low mutational burden in this subtype, reminiscent of infant

173 e pattern of polymorphisms suggests that the mutational burden in vivo is because of oxidative DNA da

174 n diverse rodent species have acquired novel mutational burdens in laboratory mice, providing an evol

175 nt-independent organoids reveals an enhanced mutational burden, including chromosomal aberrations typ

176 Mutational burden increased with impaired nucleotide exc

177 specific findings include an elevated tumour mutational burden, increased percentage of genome altera

178 ond to PD-1 blockade exhibit increased tumor mutational burden, inflammatory signatures, and altered

179 ease the efficacy of ICB therapy, and tumour mutational burden is a good but imperfect biomarker for

180 Although low tumor mutational burden is a major hurdle for immune checkpoin

181 nce mutations per genome per generation, the mutational burden is an order of magnitude higher than t

182 opulations can be achieved when a sufficient mutational burden is applied.

183 Mutational burden is higher in moderate dysplasias and i

184 between TADs and epigenetic marks, as tumor mutational burden is known to be coupled to chromatin st

185 d resequencing studies unbiased for previous mutational burden is necessary to delineate the complexi

186 We further show that the increased mutational burden is particularly high at genomic sites

187 cell carcinoma (ccRCC), despite having a low mutational burden, is considered immunogenic because it

188 y has shown promise in many cancers, the low mutational burden, limited infiltration of immune effect

189 ey challenges are the inconsistency of tumor mutational burden measurement among assays and the lack

190 ivity to PD-1 blockade, including high tumor mutational burden, microsatellite instability, and an ap

191 mor-derived mutations and inference of tumor mutational burden, microsatellite instability, mutationa

192 Significantly higher rates of high tumor mutational burden, microsatellite instability-high/misma

193 Tumour mutational burden might have some predictive value, alth

194 microsatellite instability, increased tumor mutational burden, neoantigen generation, and activation

195 typically reserved for patients with a high mutational burden, neoantigens produced from posttranscr

196 tified in two malignant melanomas with a low mutational burden (number of mutation per megabase, 0.8

197 The overall mutational burden of a tumor is considered to be a predi

198 revealed that hepatoblastoma has the lowest mutational burden of any human cancer, however, recent a

199 ora crassa has the highest mutation rate and mutational burden of any non-viral life.

200 Mutational burden of both genes correlated with X-inacti

201 CBFB eQTL were associated with global tumor mutational burden of cancer genes in ovarian cancer, gli

202 rovided us with a precise description of the mutational burden of cancers, making it possible to iden

203 The mutational burden of melanoma patients is an order of ma

204 Our data show an additional mutational burden of MMBIR consisting of hypermutation c

205 gard to damage bypass, may contribute to the mutational burden of the cell.

206 primary causes of BBS that contribute to the mutational burden of the disorder.

207 sts specifically from elderly subjects, with mutational burdens of up to 50%.

208 on compared to standard analyses using tumor mutational burden or neoepitope identification using Net

209 rming a positive correlation with high tumor mutational burden (P = 0.007).

210 al the presence of a significant increase in mutational burden, particularly that of G-to-C transvers

211 We observe no overall increase in tumor mutational burden post-chemotherapy, though a significan

212 ne signature including CD4, CIITA, and tumor mutational burden predicted good prognosis.

213 er melanocytic tumors and neoplasms with low mutational burden present opportunities to study isolate

214 POLE/POLD1-mutated tumors show a high tumor mutational burden producing an increase in neoantigens,

215 phalan treatment significantly increased the mutational burden, producing a distinctive mutation sign

216 Furthermore, biomarkers such as tumour mutational burden, programmed cell death ligand 1 expres

217 Compared with GCs, IMs exhibit low mutational burdens, recurrent mutations in certain tumor

218 rmine that TSC lesions contain a low somatic mutational burden relative to carcinomas, a subset featu

219 ctal cancers exhibit substantially increased mutational burdens relative to normal cells.

220 A high tumour mutational burden, relevant for immune checkpoint inhibi

221 ional burden and lower cognition, the excess mutational burden remained, even after adjustment for th

222 This high mutational burden renders tumors immunogenic and sensiti

223 l death ligand-1 expression and tissue tumor mutational burden, residual tissue was used for addition

224 ession, high CD4 gene expression, high tumor mutational burden score, receipt of neoadjuvant cisplati

225 However, patients with high tumour mutational burden seem to have a less pronounced benefit

226 Genomic analyses revealed higher tumor mutational burden, somatic mutation count, and somatic m

227 (PFS) events were associated with low tumor mutational burden/T cell-inflamed gene expression signat

228 n, we used a novel approach to pathway-based mutational burden testing, the rare variant trend test (

229 Childhood cancers exhibit a lower overall mutational burden than adult cancers, and recent sequenc

230 s, we show that cirrhotic liver has a higher mutational burden than normal liver.

231 , ARID1A, or CCND3 resembling IMC-BL, higher mutational burden than PTLD-DLBCL, and lesser CN alterat

232 phenotype in two cases with >8 times higher mutational burden than the remaining mean was identified

233 radic UTUC is characterized by a lower total mutational burden than urothelial carcinoma of the bladd

234 ce of this preservation and to determine the mutational burden that active sites can tolerate, we ran

235 lop a copy number alteration-corrected tumor mutational burden that depicts immunogenicity more preci

236 However, most cancers have a modest mutational burden that is insufficient for generating re

237 However, most cancers have a modest mutational burden that is insufficient to generate respo

238 Defective HRR contributes to a high tumor mutational burden that, in turn, is expected to prompt a

239 In addition, 15% of tumors exhibited raised mutational burdens that correlated with gene expression

240 in individuals with a history of smoking had mutational burdens that were equivalent to those expecte

241 Although STSs generally have low mutational burdens, the most commonly mutated genes are

242 etastatic breast cancer (MBC) and high tumor mutational burden (TMB >= 9 mut/Mb) received nivolumab (

243 izumab [microsatellite instability and tumor mutational burden (TMB) >=10 mutations/megabase (mut/Mb)

244 Mammary tumor and glioma have lower tumor mutational burden (TMB) (median < 0.5 mutations per Mb),

245 izumab [microsatellite instability and tumor mutational burden (TMB) 10 mutations/megabase (mut/Mb)]

246 teractions between treatment group and tumor mutational burden (TMB) and Immunoscore IC were reported

247 iency (MMRd) is associated with a high tumor mutational burden (TMB) and sensitivity to immune checkp

248 Patients with high tumour mutational burden (TMB) and with ANO1, CDKN2A/2B/2C, and

249 16% of HGSOCs with relatively elevated tumor mutational burden (TMB) are associated with an increased

250 PS) expression ( >= 90%) and increased tumor mutational burden (TMB) are independently associated wit

251 D-L1) tumor proportion score (TPS) and tumor mutational burden (TMB) are key predictive biomarkers fo

252 earch for additional biomarkers led to tumor mutational burden (TMB) as surrogate marker for neoantig

253 Tumour mutational burden (TMB) has been retrospectively correla

254 Tumor tissue mutational burden (TMB) has emerged as a promising predi

255 ontribute to mutational signatures and tumor mutational burden (TMB) in cancer tissues.

256 Tumor Mutational Burden (TMB) is a measure of the abundance of

257 Tumor mutational burden (TMB) is associated with clinical resp

258 In multiple cancer types, high tumor mutational burden (TMB) is associated with longer surviv

259 The tumor mutational burden (TMB) is increasingly recognized as an

260 in selected cancer types suggest that tumor mutational burden (TMB) may predict clinical response to

261 ements established biomarkers, such as tumor mutational burden (TMB) or programmed death ligand 1 (PD

262 Tumor mutational burden (TMB) reflects cancer mutation quantit

263 expression profile (Tcell(inf)GEP) and tumor mutational burden (TMB) status and randomly assigned 1:1

264 Tumor mutational burden (TMB) was determined by next-generatio

265 Tumor mutational burden (TMB) was similar to muscle-invasive d

266 or MCPyV status, PD-L1 expression, and tumor mutational burden (TMB) were assessed in pretreatment tu

267 Efficacy based on PD-L1 expression, tumor mutational burden (TMB), and changes in circulating CD4+

268 on, lactate dehydrogenase (LDH) level, tumor mutational burden (TMB), and interferon-gamma (IFN-gamma

269 egative correlations with CD8A, PD-L1, tumor mutational burden (TMB), and neoantigen load (NAL).

270 linically approved biomarkers, such as tumor mutational burden (TMB), have a modest predictive value

271 bladder cancer (GBC), association with tumor mutational burden (TMB), microsatellite instability (MSI

272 was analyzed and its correlation with tumor mutational burden (TMB), patient prognosis, age and smok

273 Combining NLR with tumor mutational burden (TMB), the probability of benefit from

274 opose that a tumor-only calculation of tumor mutational burden (TMB), which leverages algorithmic fil

275 2, 18, 24 and 30 months, outperforming tumor mutational burden (TMB), which showed median AUC(t) valu

276 ced efficacy toward cancers with a low tumor mutational burden (TMB).

277 an only partially be explained by high tumor mutational burden (TMB).

278 ICIs were more likely to have a higher tumor mutational burden (TMB).

279 tational signatures, and estimation of tumor mutational burden (TMB).

280 owed that POLE/D1pd tumors have higher tumor mutational burden (TMB).

281 death ligand 1 (PD-L1) expression and tumor mutational burden (TMB).

282 nomic signatures contributing to high tumour mutational burden (TMB-H) independent from mismatch-repa

283 umors of any histologic type with high tumor mutational burden (TMB; 10 mutations per megabase).

284 s were categorised into hypermutated (tumour mutational burden [TMB] >15 mutations per megabase) and

285 deleterious alleles by 26%, and shifted the mutational burden toward common variants; (ii) deleterio

286 In contrast, higher tumor mutational burden, tumor indel burden, and degrees of mi

287 rve negative selection (dN/dS ~ 0.56) in low mutational burden tumors, while remaining cancers exhibi

288 Tobacco smoking was the major influence on mutational burden, typically adding from 1,000 to 10,000

289 Further, we introduce untranslated tumor mutational burden (uTMB), a metric reflecting the amount

290 exploratory biomarker analyses, higher tumor mutational burden was associated with improved clinical

291 easurements and Main Results: Clonal somatic mutational burden was associated with reduced lung funct

292 tumor genomic profiling data, the mean tumor mutational burden was greater for patients with HGTs (me

293 Tumour mutational burden was independently prognostic for relap

294 The decreased mutational burden was not due to rapamycin-induced cell

295 By stratifying tumors by their genome-wide mutational burden, we observe negative selection (dN/dS

296 en tumor differentiation and overall somatic mutational burden, which also likely explains the highly

297 ntly outperformed predictions based on tumor mutational burden, which was recently approved by the U.

298 fspring heteroplasmic variance and increased mutational burden with higher nonsynonymous-to-synonymou

299 ression, we have demonstrated an increase in mutational burden with tumor progression at all length s

300 CRC) is thought to arise when the cumulative mutational burden within colonic crypts exceeds a certai