ライフサイエンスコーパス: genetic alteration

1 ven without identification of the underlying genetic alteration.

2 inical heterogeneity, despite relatively few genetic alterations.

3 ut malignant progression requires additional genetic alterations.

4 ents, that are defined by mutually exclusive genetic alterations.

5 ype causes disease due to psoriasis-specific genetic alterations.

6 entiation and excluding pathognomonic (cyto-)genetic alterations.

7 etic variants or multiple, individually rare genetic alterations.

8 changes, indicating a role for smaller-scale genetic alterations.

9 s of such tumors would be driven by distinct genetic alterations.

10 ations can be reconstructed from patterns of genetic alterations.

11 f the malignant clone is ascribed to defined genetic alterations.

12 ng tumor size, histopathologic features, and genetic alterations.

13 ishable primary patient samples with similar genetic alterations.

14 interpretation of functional consequences of genetic alterations.

15 boratory-adapted HCMV strains have undergone genetic alterations.

16 ormation following the introduction of these genetic alterations.

17 s of uterine leiomyoma (LM) with distinctive genetic alterations.

18 orbidity between diseases caused by the same genetic alterations.

19 ression was enriched in tumors with specific genetic alterations.

20 in tumors by uncovering several novel driver genetic alterations.

21 tologically diverse malignancies with common genetic alterations.

22 urvival pathways, and multiple low-frequency genetic alterations.

23 Despite extensive genetic alterations across 6% of the genome, no major gl

24 omas and phyllodes tumors, the landscapes of genetic alterations across the fibroepithelial tumor spe

25 Here, I review the common genetic alterations across the spectrum of thyroid neopl

26 Its phenotype is determined by both genetic alterations (activating RET oncoprotein) and phy

27 However, it has remained unclear how these genetic alterations affected the structure of SepSecS an

28 In principle, any genetic alteration affecting a protein-coding region has

29 enetic diseases are believed to be caused by genetic alterations affecting the function of signalling

30 rearrangements of ALK, DUSP22/IRF4, and TP63 Genetic alterations affecting TP53 and the mutational st

31 (GBM) tumors exhibit potentially actionable genetic alterations against which targeted therapies hav

32 nherent to cochlear progenitor cells without genetic alterations, allowing for the generation of over

33 ression classifier (GEC), the sensitivity of genetic alterations alone was 42%, compared to the 91% s

34 Genetic alterations also associated with lack of respons

35 Rare occurrence of genetic alterations among PIM family members imposes a s

36 r entities, each associated with a recurrent genetic alteration and distinct histopathological and cl

37 by the presence of more than one pathogenic genetic alteration and distinctive histopathological fea

38 ad and neck cancers, despite an abundance of genetic alterations and a T-cell-inflamed phenotype.

39 se studies provide mechanistic links between genetic alterations and aberrant signaling pathways crit

40 (ROS) than do non-malignant cells because of genetic alterations and abnormal growth; as a result, ma

41 Investigations of genetic alterations and correlations with histology or m

42 conventional risk factors with regard to new genetic alterations and early response to therapy, as as

43 ing tumor evolution through a combination of genetic alterations and epigenetic events that recapitul

44 pigenetic modifications are less stable than genetic alterations and even reversible under a variety

45 l of bladder cancer cell lines which exhibit genetic alterations and gene expression patterns consist

46 In this regard, different genetic alterations and genetic pathways appear to disti

47 glioblastoma multiforme (GBM); thus, complex genetic alterations and genomic profiles, which recurren

48 Genetic alterations and genomic reprogramming underlie t

49 sporadic CRCs has confirmed prior identified genetic alterations and has classified new alterations.

50 rkers that serve as surrogates for molecular genetic alterations and identification of characteristic

51 ions for known clinically actionable somatic genetic alterations and identified new predictive biomar

52 ion are also associated with accumulation of genetic alterations and loss of normal regulatory proces

53 sion genes in the absence of other recurrent genetic alterations and mechanisms of tumor heterogeneit

54 be considered in the context of cooperating genetic alterations and provide previously unidentified

55 We showed that the incidence of MYC/BCL2 genetic alterations and their clinical significance were

56 In summary, we delineate specific genetic alterations and their sequential order, informat

57 ssue samples have uncovered a high degree of genetic alterations and tumour heterogeneity in most tum

58 These mice did not have any other engineered genetic alterations and were not exposed to liver toxins

59 V) might function as a novel tumor-promoting genetic alteration, and potentially an oncogene, in cert

60 ages and shortcomings for engendering useful genetic alterations, and consider future prospects for g

61 Multiple genetic alterations are associated with prostate carcino

62 Although some of these genetic alterations are clonal in the PIPs, many of the

63 Genetic alterations are known drivers of autoimmune dise

64 n biological samples is still challenging as genetic alterations are only partially predictive and di

65 EGFR tyrosine kinase inhibitors (TKI), these genetic alterations are present in only a minority of pa

66 inal stromal tumours (GISTs), and additional genetic alterations are required for progression to mali

67 g that viral integration induced host driver genetic alterations are required on top of viral oncogen

68 in murine models, indicating that additional genetic alterations are required.

69 resistance, which are largely attributed to genetic alterations, are barriers to effective anti-epid

70 These genetic alterations arise through the aberrant repair of

71 oteins and (2) the urine of children without genetic alterations, as validated by next-generation seq

72 lated to a genetic cause, but to what extent genetic alterations associate with resistance to immunos

73 based analysis of HCA and identify recurrent genetic alterations associated with adenoma-carcinoma tr

74 Genetic alterations associated with prostate cancer (PCa

75 ical Hodgkin's lymphoma are characterised by genetic alterations at the 9p24.1 locus, leading to over

76 predictions about conditions where combining genetic alterations benefits tumorigenesis.

77 r, predicting the functional effect of these genetic alterations beyond affected genes and their prod

78 Because each tumor carries only one genetic alteration, both subtypes are considered to be m

79 neoplastic cells is determined by intrinsic genetic alteration but tumor progression is controlled b

80 which is able to characterize the history of genetic alterations by integrating longitudinal and cros

81 n the mechanism of the synergy between these genetic alterations by modeling hematopoietic abnormalit

82 OO subtype-specific biomarkers based on BCL2 genetic alterations can be used to risk-stratify patient

83 The HPV-positive HNSCC is characterized by genetic alterations, clinical progression, and therapeut

84 of the activating NK-cell receptor DNAM-1, a genetic alteration consistently found in MS-association

85 FL-HCCs examined (15/15) suggests that this genetic alteration contributes to tumor pathogenesis.

86 Additionally, MIRMMR highlights those genetic alterations contributing to microsatellite insta

87 The molecular-genetic alterations contributing to the pathogenesis of

88 Here, we review how genetic alterations define subclasses of patients with a

89 nother 3 cases, MRD clonal PCs displayed all genetic alterations detected at diagnosis plus additiona

90 mic heterogeneity, summarize the spectrum of genetic alterations detected in BM, and discuss how mole

91 Research Network has expanded the number of genetic alterations detected in papillary thyroid carcin

92 mia (CLL) is a frequent disease in which the genetic alterations determining the clinicobiological be

93 ith HPV infection, little is known about the genetic alterations determining the development of penil

94 tumors, show high concordance with specific genetic alterations, disease risk factors and patient ou

95 Genetic alterations disrupting the transcription factor

96 poorly understood, and previously determined genetic alterations do not explain the majority of trans

97 Which genetic alterations drive tumorigenesis and how they evo

98 Sequential acquisition of genetic alterations drives this process but also causes

99 A systematic characterization of the genetic alterations driving ALCLs has not been performed

100 neous disease with different combinations of genetic alterations driving its development in different

101 Genetic alterations driving medulloblastoma initiation a

102 n emerging model of universal ERK-activating genetic alterations driving pathogenesis in LCH.

103 n found to contain a large number of de novo genetic alterations due to DNA damage response during re

104 luding KLF4 and KLF5, are rarely affected by genetic alteration during tumorigenesis, but compose key

105 Our study defined the succession of genetic alterations during melanoma progression, showing

106 Whether metastasis-specific genetic alterations exist remains controversial.

107 Genotyping tumor tissue in search of somatic genetic alterations for actionable information has becom

108 The most common genetic alterations for familial thoracic aortic aneurys

109 ogy and harbours the majority of the somatic genetic alterations found in a metastatic lesion isolate

110 4 and MAP2K1 mutations are the most frequent genetic alterations found in PTFL and occur independentl

111 The epimutation was inherited without a genetic alteration from his asymptomatic mother.

112 amics of such sequential acquisition of (epi)genetic alterations has been the topic of much investiga

113 cancer in men and multiple risk factors and genetic alterations have been described.

114 Although a variety of genetic alterations have been found across cancer types,

115 Stereotypical genetic alterations have been identified and confirmed.

116 Although genetic alterations have been identified, none are consi

117 Analyses of genetic alterations have identified those that might be

118 The overwhelming number of genetic alterations identified through cancer genome seq

119 gineered tumors containing up to 5 different genetic alterations, identified genetic dependencies of

120 A common genetic alteration in acute myeloid leukemia is the inte

121 mutation in EZH1 is the second most frequent genetic alteration in ATAs.

122 tumor suppressor gene are the most frequent genetic alteration in cancer and are often associated wi

123 meric gene Titin are the most common type of genetic alteration in dilated cardiomyopathy.

124 IDH1 mutation is the earliest genetic alteration in low-grade gliomas (LGGs), but its

125 A variety of upstream genetic alterations in acute myeloid leukemia lead to ov

126 omplex genetic disorder orchestrated by many genetic alterations in addition to PIGA mutations.

127 Genetic alterations in ASM lead to ASM deficiency (ASMD)

128 Genetic alterations in at least two out of four genes we

129 ng our understanding of coding and noncoding genetic alterations in B-progenitor and T-lineage ALL an

130 ic copy-number alterations revealed frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1.

131 Genetic alterations in BRAF, NRAS and NF1 that activate

132 We discuss how some of these genetic alterations in brain tumors rewire metabolism.

133 Analysis of genetic alterations in Burkitt lymphoma has yielded a be

134 how transcriptional control is disrupted by genetic alterations in cancer cells, why transcriptional

135 iated RNA editing dynamically contributes to genetic alterations in cancer, and directly correlates w

136 stability of the genome by the prevention of genetic alterations in cells but also plays a role in re

137 pair status without interrogating individual genetic alterations in cells.

138 These results suggest that heterogeneous genetic alterations in children with sporadic forms of n

139 n to mutations in TP53 and KRAS, we identify genetic alterations in chromatin remodelling genes, ARID

140 The clinical significance of MYC and BCL2 genetic alterations in diffuse large B-cell lymphoma (DL

141 hese studies identify unique combinations of genetic alterations in discrete LBCL subtypes and subtyp

142 nvestigate the prevalence of these and other genetic alterations in diverse subtypes of thyroid nodul

143 most retinoblastomas reemerged without clear genetic alterations in either Mycn or known Mycn targets

144 We tested whether genetic alterations in endocannabinoid signaling related

145 r-dependent genomic signaling is affected by genetic alterations in endocrine therapy resistance.

146 An array of cancer-associated genetic alterations in ERBB receptors has also been iden

147 atients with advanced solid tumors harboring genetic alterations in fibroblast growth factor receptor

148 been a clear delineation of the landscape of genetic alterations in HCC, including high-level DNA amp

149 Recent reports have characterized the genetic alterations in HNSCC and demonstrated that mutat

150 flammatory cytokines might therefore promote genetic alterations in human cancer cells.

151 Genetic alterations in human cancers and murine models i

152 ation and mutation are among the most common genetic alterations in human HNSCC.

153 1 (IDH1) and IDH2 are among the most common genetic alterations in intrahepatic cholangiocarcinoma (

154 We showed that molecular genetic alterations in membrane lipid composition result

155 pared to tumorigenesis, it is yet unclear if genetic alterations in metabolic pathways are associated

156 Here the authors characterize diverse genetic alterations in MIBC that convergently lead to co

157 e demonstrate that targeted NGS can identify genetic alterations in minute lesions, such as TICs, and

158 ome characterization efforts have identified genetic alterations in multiple components of the NF-kap

159 factors are the single most common class of genetic alterations in myelodysplastic syndrome (MDS) pa

160 these findings describe a mechanism by which genetic alterations in noncoding gene regions may result

161 ovide insights into the number and nature of genetic alterations in normal tissues and can be used to

162 criptional programs associated with specific genetic alterations in oncogenes and tumor suppressors a

163 and potential prognostic significance of key genetic alterations in paediatric ACT and outline a hypo

164 ctivating mutations in KRAS are the hallmark genetic alterations in pancreatic ductal adenocarcinoma

165 and links clinical outcomes to co-occurring genetic alterations in patients with advanced-stage EGFR

166 study provides mechanistic insights into how genetic alterations in primary tumors impact the ensuing

167 IPER to evaluate the functional relevance of genetic alterations in regulatory proteins across all sa

168 Therefore, genetic alterations in specific pathways in MF were iden

169 role of epigenetic abnormalities as well as genetic alterations in such dynamics and in the creation

170 y reveal a shared dependency of cancers with genetic alterations in SWI/SNF subunits, but also sugges

171 s that personalizing therapies to target key genetic alterations in the CPC represents an attractive

172 e data indicate that human cancer-associated genetic alterations in the FEN1 gene can contribute subs

173 to define the repertoire of potential driver genetic alterations in the HER2-negative components of t

174 ave shown that MWCNT cause biomechanical and genetic alterations in the lung tissue which lead to lun

175 Moreover, genetic alterations in the PORCN gene lead to focal derm

176 However, genetic alterations in the RB-regulated E2F family of tr

177 en stabilizing and destabilizing forces, and genetic alterations in these mechanisms provide one expl

178 e cancer, but the interplay between diet and genetic alterations in this disease is not understood.

179 etween PD-L1 protein expression and relative genetic alterations in this series.

180 Additional genetic alterations include recurrent somatic mutations

181 Actionable genetic alterations included 25 EGFR mutations, 5 BRAF m

182 Genetic alterations including deletions and single nucle

183 The RNA-seq analysis also highlighted genetic alterations, including mutations, gene fusions,

184 Cancer-associated genetic alterations induce expression of tumour antigens

185 Genetic alterations initiate tumors and enable the evolu

186 nted rate, determining which combinations of genetic alterations interact to produce cancer phenotype

187 The genetic alterations involved in the pathogenesis of PTFL

188 However, the presence of a particular genetic alteration is often insufficient to predict ther

189 s low-grade forms driven by distinct sets of genetic alterations is germane to the successful impleme

190 Instead, other genetic alterations known to activate the MAPK and PI3K

191 er develops through a particular sequence of genetic alterations (KRAS, followed by CDKN2A, then TP53

192 ledge of the functional consequences of many genetic alterations lags, investigators and sponsors str

193 al Hodgkin lymphoma (HL) frequently exhibits genetic alterations leading to overexpression of the pro

194 Characterizing the genetic alterations leading to the more aggressive forms

195 This genetic alteration leads to the accumulation of five typ

196 ice deficient in desmoglein 3, similar human genetic alterations may also disrupt desmosome function

197 Cancer cells with specific genetic alterations may be highly dependent on certain n

198 Despite harboring the same genetic alterations, mesenchymal-like tumor cells are re

199 neous disease in which a variety of distinct genetic alterations might occur.

200 d arteries were studied to establish whether genetic alterations modified vascular reactivity.

201 a heterogeneous group of tumors with various genetic alterations, molecular features, and risks of ma

202 SCLC; arm 1) or other solid tumors with FGFR genetic alterations (mutations/amplifications/fusions) r

203 ER2-negative components are likely driven by genetic alterations not present in the HER2-positive com

204 nase genes IDH1 and IDH2 are among the first genetic alterations observed during the development of l

205 omosome region 3p21.3 where allelic loss and genetic alterations occur early and frequently in lung c

206 utation allele burden, nor prevention of new genetic alteration occurence.

207 pituitary gland is particularly sensitive to genetic alteration of genes involved in the cyclin-depen

208 Importantly, genetic alteration of OCT2 is not a requirement for cell

209 We found that genetic alteration of the p53 pathway is a primary molec

210 ncer medicine seeks to target the underlying genetic alterations of cancer; however, it has been chal

211 ell survival and altering cell polarity) for genetic alterations of CTCF in endometrial cancer.

212 In this study, we found that genetic alterations of FBW7, an E3 ubiquitin ligase and

213 literature search to focus on nine pairs of genetic alterations of our dataset, with subsequent veri

214 Recently, recurrent genetic alterations of potential importance for its path

215 Herein, we review the most relevant genetic alterations of primary versus secondary GBM, the

216 Focusing on genetic alterations of protein-coding genes involved in

217 lian disease and comorbid cancer indeed have genetic alterations of significant functional similarity

218 lethal childhood cancers with characteristic genetic alterations of SMARCB1/hSNF5.

219 Genetic alterations of TET2 occur in myeloid malignancie

220 Genetic alterations of the maternal UBE3A allele result

221 cancers from scleroderma patients, we found genetic alterations of the POLR3A locus in six of eight

222 ed understanding of the functional impact of genetic alterations on biological processes.

223 le unit to delineate the impact of noncoding genetic alterations on single genes in cancer.

224 d in breast cancer, but the effects of these genetic alterations on the proteomic landscape remain po

225 hich can be used to understand the impact of genetic alterations or to screen the efficacy of chemoth

226 A prognostic model comprising these genetic alterations outperformed current established cel

227 ECM inputs, pharmacological perturbations or genetic alterations, particularly a loss of PTEN in aggr

228 comprehensive understanding of the molecular-genetic alterations pivotal to the development of sebace

229 d by SVs, suggesting that these two types of genetic alterations play different roles during cancer p

230 To identify genetic alterations potentially responsible for driving

231 In 28% of the tumors, we identified genetic alterations potentially targetable by US Food an

232 ases defined by the pattern of combinatorial genetic alterations present within the cells of the tumo

233 rocess, caused by successive accumulation of genetic alterations providing milestones of tumor initia

234 lnerabilities that arise as a consequence of genetic alterations remain major challenges.

235 sequencing, and identified potential driver genetic alterations restricted to the HER2-negative cell

236 ltering mutations and undergo epigenetic and genetic alterations, resulting in aberrant protein expre

237 to BYL719 had additional and different PTEN genetic alterations, resulting in the loss of PTEN expre

238 Several genetic alterations seemed to segregate by histology.

239 omputational modeling to explain patterns of genetic alterations seen in 178 patients with bladder tu

240 a Shank3-deficient rat model of PMS, with a genetic alteration similar to a human SHANK3 mutation.

241 e a comprehensive characterization of driver genetic alterations (somatic point mutations, copy numbe

242 model that faithfully recapitulates a DISC1 genetic alteration strongly associated with schizophreni

243 Relationships between genetic alterations, such as co-occurrence or mutual exc

244 Our results indicate that even driver genetic alterations, such as HER2 gene amplification, ca

245 Such genetic alterations target distinct combinations of the

246 rge B-cell lymphomas that carry inactivating genetic alterations targeting the FBXO11 gene.

247 features, viral infection status, and cancer genetic alterations than other computational approaches.

248 Genetic alterations that activate NOTCH1 signaling and T

249 thetic chromosome, was developed to identify genetic alterations that affect cell fitness ("bugs").

250 Rare copy number variations (CNVs) are genetic alterations that are associated with a wide rang

251 ose a method for the systematic discovery of genetic alterations that are causal determinants of dise

252 Genetic alterations that are common to all HNSCC types a

253 ted thyroid carcinoma) carry several complex genetic alterations that are likely cooperating to promo

254 risk of leukemia development and the somatic genetic alterations that are required to establish the l

255 ll lung cancers and these tumors often carry genetic alterations that are responsive to targeted ther

256 -specific mutations, and we identify somatic genetic alterations that are specifically related to ini

257 RD clonal PCs, but also a selected number of genetic alterations that became apparent only at the MRD

258 Moreover, IDH and Kras mutations, genetic alterations that co-exist in a subset of human I

259 unique mutational profiles for cyst type and genetic alterations that coincide with the development o

260 Although researchers have identified genetic alterations that contribute to development of es

261 ll cycle function, evolving in parallel with genetic alterations that deregulate the G1/S cell cycle

262 Thus, oncogene activation can occur via genetic alterations that disrupt insulated neighborhoods

263 The identification of specific genetic alterations that drive the initiation and progre

264 Cancer arises from genetic alterations that invariably lead to dysregulated

265 elatively little is known about the acquired genetic alterations that lead to canine B-cell lymphomas

266 ave emerged: an intrinsic pathway, driven by genetic alterations that lead to neoplasia and inflammat

267 In addition, we report previously unknown genetic alterations that may render selected patients se

268 We review the cellular and genetic alterations that occur during progression of Bar

269 tudies have identified a large collection of genetic alterations that occur in human cancers.

270 genomic instability enables cells to acquire genetic alterations that promote oncogenesis.

271 Genetic alterations that range from chromosome imbalance

272 Genetic alterations that reduce the function of the immu

273 We set out to identify genetic alterations that underlie recurrent/metastatic H

274 histopathologic features and to identify the genetic alterations that underpin SPCRP using massively

275 ing of the same patient specimens identified genetic alterations that were then integrated with the f

276 cts of diverse selective pressures including genetic alterations, therapeutic interventions, heteroce

277 Unlike genetic alterations, these virally induced epigenetic ch

278 Because of the stochastic nature of genetic alterations, this intratumoral heterogeneity is

279 xpression (MuLE) system that allows multiple genetic alterations to be introduced simultaneously into

280 directions toward yield improvement through genetic alterations to physiology to increase varepsilon

281 histologic subtypes (many with well-defined genetic alterations) to best fit diagnosis to therapy.

282 m directly into HCC cells (via a sequence of genetic alterations), to dedifferentiate into hepatocyte

283 The comprehensive genetic alterations underlying the pathogenesis of SS ar

284 enes and have provided a limited view of the genetic alterations underlying this disease.

285 Although genetic alterations underpin the development of neoplast

286 In this study, we profiled MYC and BCL2 genetic alterations using next-generation sequencing and

287 The specificity based only on genetic alterations was 84%, compared to 77% specificity

288 s ALK, CSF1R, and CD274/PD-L1 The over 1,000 genetic alterations we identified highlight the importan

289 Genetic alterations were detected in 1039 (70%); the mos

290 In FNAs, genetic alterations were detected in 19/44 malignant sam

291 In 8 PTFL cases (19%), no genetic alterations were identified beyond IG monoclonal

292 Genetic alterations which impair the function of the TP5

293 cancer progression, epithelial cells undergo genetic alterations which, together with stromal changes

294 ogy malignant samples were found to harbor a genetic alteration, while 15/75 (20%) of benign samples

295 Furthermore, the combination of BCL2 genetic alterations with IPI identifies markedly worse p

296 rs, and divergent recurrences that share few genetic alterations with the primary tumor and originate

297 sequencing identifies potentially targetable genetic alterations with therapeutic implications.

298 e tumour often contains the same core set of genetic alterations, with heterogeneity confined to muta

299 es of renal cancer characterized by specific genetic alterations, with type 2 further classified into

300 will require tools to distinguish actionable genetic alterations within the complex genetic landscape