ライフサイエンスコーパス: copy number gain

1 ith few changes, one with a tendency to show copy number gain).

2 ylation of these segments associated with AR copy number gain.

3 L-Myc RNA in relative proportion to the DNA copy number gain.

4 r neutral regions, as well as two regions of copy number gain.

5 ular dysfunction in aneuploid HMECs with net copy number gain.

6 a morphological change attributable to a DNA copy number gain.

7 ixture of deletion, insertion, inversion and copy number gain.

8 plified alleles and haplotypes in regions of copy number gain.

9 l uncharacterized (12p13 and 16p13) regional copy number gains.

10 focal epilepsy who have mosaic chromosome 1q copy number gains.

11 e the clinical correlates of germline TPSAB1 copy number gains.

12 types: deletions, insertions, inversions and copy number gains.

13 tions have occasionally been associated with copy-number gains.

14 signature of genomic regions with recurrent copy-number gains.

15 positive regions flanking and throughout the copy-number gains.

16 omes, often in clusters, and associated with copy-number gains.

17 umors to spatially associate palindromes and copy-number gains.

18 MCL1 copy number gain (14%-34%) correlates with increased MCL

19 e than one breakpoint) are more prevalent in copy-number gains (17.7%) than in copy-number losses (2.

20 cally opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).

21 Copy number gain (3 copies) was also observed for MUC2,

22 ddition, ABC-DLBCL frequently displays focal copy number gains affecting BCL2 Here, we generated a no

23 nt ALK-FISH patterns [ALK-rearrangement, ALK-copy number gain (ALK-CNG)] monitored on crizotinib coul

24 BLM) and cyclin E1 (CCNE1) overexpression or copy number gain/amplification were seen in patients who

25 44 genes that exhibit high frequency somatic copy number gains/amplifications (>20 % cases) associate

26 allowed the identification of 70 regions of copy number gain and 55 regions of copy number loss.

27 w for the first time that patients with KRAS copy number gain and KRAS mutation have significantly wo

28 enable determination of the presence of KRAS copy number gain and KRAS mutations in larger studies an

29 ng assays for their ability to detect 2-fold copy number gain and loss (4n or 1n, respectively) as we

30 is study, we found seven frequent regions of copy number gain and loss in the mouse p53(+/-) osteosar

31 NA) and identified regions of peak and broad copy number gain and loss, including peak gains (3q21, 5

32 found that RalA up-regulation was driven by copy number gain and uncovered that SP1 and ETS proto-on

33 subsequent BRCA recovery upon progression by copy number gain and/or upregulation of the remaining fu

34 ationTimeR, a method for timing higher level copy number gains and inferring the most parsimonious or

35 Cancer cells undergo a variety of DNA copy number gains and losses (CNV), raising two importan

36 DNA copy number gains and losses are commonly found in tumor

37 -EPN-B) tumours display frequent large-scale copy number gains and losses but have favourable clinica

38 HMM approach has greater power for detecting copy number gains and losses relative to existing method

39 The CGH map of chromosomal copy number gains and losses strikingly matched the SKY

40 e found that NCC-derived NBL tumors acquired copy number gains and losses that are syntenic to those

41 sent most of the major lineage-specific gene copy number gains and losses that have occurred in these

42 dels to predict the clinical significance of copy number gains and losses were trained independently.

43 as identified chromosomal rearrangements and copy number gains and losses, including ETS gene family

44 enomes frequently contained many small-scale copy number gains and losses, termed micro-aberrations,

45 of DNA segments falsely identified as having copy number gains and losses.

46 iscuss the permanent and transient nature of copy number gains and relate these observations to a new

47 esis that multiple genetic events, including copy number gains and somatic mutations, are necessary f

48 In addition, MCL1 and BCL2L1 copy number gains and structural rearrangements were lin

49 subgroup, characterized genetically by c-MYC copy number gains and transcriptionally by enrichment of

50 nd to play an important role in USC, with 13 copy-number gains and 12 copy-number losses that occurre

51 varied chromosomal structures with low-level copy-number gains and frequent inverted rearrangements.

52 ed that 49 participants had a combination of copy-number gains and losses across multiple (>=3) chrom

53 alysis showed unique patterns of nonspecific copy-number gains and losses across multiple chromosomes

54 genomic hybridization (array CGH), measuring copy-number gains and losses among these species.

55 l and SNV formation are associated with both copy-number gains and losses of 17p11.2, occur up to ~1

56 a distinct pattern of multiple recurrent DNA copy-number gains and losses that include alterations fr

57 g Chinese Asian data, we confirm that GMS-B (copy-number gain) and GMS-D (mutationally noisy) are spe

58 that are up-regulated and show frequent DNA copy number gain, and 37 genes that are down-regulated a

59 identified 26 recurrently mutated genes, 18 copy number gains, and 8 copy number losses.

60 ce in control subjects, complete coverage in copy number gains, and presence in the minimal region co

61 ied at certain loci, and in some cases these copy-number gains are complex chromosome rearrangements

62 Analysis of relapsed tumours identified Myc copy number gain as a prevalent candidate resistance mec

63 tion to address the chromosomal locations of copy number gains as well as losses.

64 Here we show (V600E)B-RAF copy-number gain as a mechanism of acquired B-RAF inhibi

65 To date, few efforts have focused on copy number gain at Xp22.31.

66 rm of human ovarian cancer, and is linked to copy number gains at chromosome 12p13.33.

67 Vs and report the significant association of copy number gains at chromosome 7q36.3 with schizophreni

68 n MYCN-amplified neuroblastoma, specifically copy number gains at mouse chromosome 11, syntenic with

69 ed in 1.35% of cases the presence of de novo copy number gains at Xq28 encompassing the VAMP7 gene, w

70 Copy-number gain at 3q resulted in increased MAP3K13 mRN

71 s from nine unrelated families, we show that copy-number gains at 16p13.3 cause a severe, recognizabl

72 olyadenylation-like complex and demonstrated copy number gain, chromosomal translocation and enhancer

73 tinib with that of placebo according to EGFR copy number gain (CNG) and EGFR, KRAS, BRAF, and PIK3CA

74 RKCI is targeted for frequent tumor-specific copy number gain (CNG) in both lung squamous cell carcin

75 We examined the clinical relevance of MET copy number gain (CNG) in the setting of treatment-naive

76 KDR copy number gains (CNG), measured by quantitative PCR an

77 y loss and slightly improved in regions with copy number gain, comparing with the Bayesian Robust Lin

78 a-Tryptase encoding TPSAB1 copy number gains, compatible with HaT, were identified

79 sitates the use of FISH to determine whether copy-number gains detected by array CGH represent tandem

80 2 first-degree relatives) carried a germline copy-number gain (duplication) of the genomic region on

81 ired resistance is associated with focal DNA copy number gains encompassing c-MYC.

82 On average, 26% of the copy number gain events occur by the mitotic recombinati

83 2 amplification, KRAS amplification, or WNT2 copy-number gain exhibited Porcupine inhibitor-sensitive

84 and other tumors due in part to the genomic copy number gain for 3-phosphoglycerate dehydrogenase, t

85 the optimal diagnostic cut-off point for MET copy number gains identified using fluorescence in situ

86 We found that the WWP1 gene had copy number gain in 15 of 34 (44%) xenografts and cell l

87 We demonstrated chromosomal copy number gain in 1q21-23 and loss in 17p13 by genomic

88 fusion gene expression locus, demonstrated a copy number gain in a majority of tumors of both genotyp

89 FISH analysis revealed copy number gain in a subset of cells within medulloblas

90 s located at 13q12.13, a region of recurrent copy number gain in a substantial fraction of colon canc

91 (PHGDH) is in a genomic region of recurrent copy number gain in breast cancer and PHGDH protein leve

92 es exhibiting frequent overexpression and/or copy number gain in cancer.

93 some 1q (1q+) is the most frequent arm-level copy number gain in patients with MM and is associated w

94 investigated 67 breakpoint junctions of gene copy number gains in 31 unrelated subjects.

95 dew resistance locus and population-specific copy number gains in a regulator of vegetative branching

96 ight into the direct and indirect effects of copy number gains in chromosome 15 and provides a framew

97 ociated with malignant transformation (focal copy number gains in chromosome arms 1q, 7p, 8q, 9q, and

98 Copy number gains in chromosomes 3q, 5p, and 8q were obs

99 role of germline a-tryptase encoding TPSAB1 copy number gains in disease evolution.

100 f human cancer revealed subtle but impactful copy number gains in E2F1 and E2F3 in hepatocellular car

101 F transcriptional output, we have shown that copy number gains in E2f1 or E2f3b resulted in dosage-de

102 Copy number gains in EIF4G1 and EIF3E frequently co-occu

103 e chromosome 3q region frequently subject to copy number gains in human tumours.

104 ng enzyme in animals, underwent several gene copy number gains in humans (Perry et al., 2007), dogs (

105 he 70-gene mRNA risk model, is driven by DNA copy number gains in MM.

106 For many CNVs, and copy number gains in particular, the responsible dosage-

107 cate previously uncharacterized regions with copy number gains in primary tumor samples.

108 Focal copy-number gain in CCNE1 and CDKN2A deletion was enrich

109 ACSS2 exhibits copy-number gain in human breast tumors, and ACSS2 expre

110 esulting in daughter cells with simultaneous copy-number gains in multiple ecDNA species before any s

111 nt tumor specimens from 10 patients revealed copy-number gains in PDL1 and PDL2 and increased express

112 ncluding percentage of genome alteration and copy number gains, in men of African ancestry.

113 Conversely, commonly reported genes with copy number gains, including MYC and GATA6, were frequen

114 Five PKC genes exhibited significant DNA copy number gains, including PKCiota (43.8%), PKCbeta1 (

115 Chr12p copy number gains indicate rapid emergence of resistance

116 ion of TRAF2 in cancer cells harboring TRAF2 copy number gain inhibits proliferation, NF-kappaB activ

117 cogenes that may be activated as a result of copy number gains involving 9p and 22q.

118 Copy number gains involving 9p23-p22.3 (NFIB) and 22q12-

119 This copy number gain is observed only in patient brain tissu

120 romosomal mosaicism, with parentally derived copy number gain isolated to brain, reflecting rescue in

121 currence of certain chromosomal aberrations (copy number gain, LOH, and somatic UPDs) during carcinog

122 NRAS mutations and KIT copy number gain may be mechanisms of therapeutic resist

123 ently amplified in a genomic region of focal copy number gain most commonly found in melanoma.

124 mber losses (NAFLD: 13.3%, controls: 12.9%), copy number gains (NAFLD: 32.9%, controls: 18.5%).

125 The most prominent copy number gain occurred on chromosome 13, overlapping

126 taining cells above the cutoff for polysomy (copy number gain of >/=2 probes) were classified as posi

127 this study was to analyze the association of copy number gain of 1q in favorable-histology Wilms tumo

128 ary medulloblastomas revealed frequent focal copy number gain of a region minimally containing OTX2 a

129 orf72 hexanucleotide repeat expansions and a copy number gain of APP, were found in 61 brains.

130 In addition to expected copy number gain of chromosome 12p and mutation of KIT,

131 gnificant correlations were observed between copy number gain of clones containing CCNE1 and gain of

132 s its overexpression is coupled with a focal copy number gain of its locus at 12q13.1, and its expres

133 r human colon cancer progression there was a copy number gain of the fak gene during conversion from

134 Recurrent copy number gain of the genes encoding the PD-1 ligands

135 ing grafting rate were histology, TNM stage, copy number gain of tyrosine kinases/KRAS genes, and mic

136 rall, we define a novel cohesinopathy due to copy number gain of Xq25 and STAG2 in particular.

137 ng, we identified structural aberrations and copy number gains of 1q21 in the treated cells similar t

138 showed some clear differences including high copy number gains of CCND1, hsa-miR-548k and TP63 in the

139 By contrast, large copy number gains of chromosomes 7, 12, 16 and 17 are us

140 Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup

141 Overall, our study delineates early copy number gains of mutant TP53 as a characteristic mut

142 Copy number gains of noncoding regions harboring super-e

143 omic microarray analysis identified oncogene copy number gains of PAK1 and JUNB in three of four case

144 NVs were found in <1.5% of brains, including copy number gains of PRPH that were overrepresented in A

145 alterations in the AKT/mTOR pathway included copy number gains of the AKT1 locus at 14q32.33 in 19% o

146 Solid tumors frequently have copy number gains of the PVRL4 locus and some have focal

147 Whether low copy-number gain of one or more of these genes drives ne

148 kin lymphomas (cHLs), which exhibit frequent copy-number gains of CD274 (PD-L1) and PDC1LG2 (PD-L2) o

149 PIK3CA mutations and copy-number gains of chromosome 22q11 were more frequent

150 trol group revealed a radiation-specific DNA copy number gain on chromosomal band 7q11.23 and the rad

151 The impacts of histologic grade, focal copy number gain on chromosome 1q, and DNA methylation p

152 expression in cancer is known, the impact of copy-number gains on "bystander" genes is less understoo

153 These third hits were mostly copy number gains or deletions, but could be protein-tru

154 ty leading to aneuploidy and accumulation of copy number gains or losses is a hallmark of cancer.

155 structural alterations to the genome through copy number gains or losses.

156 cinoma have identified regions of consistent copy-number gain or loss, but in many cases the oncogene

157 chromosome arms show consistent large-scale copy-number gain or loss, of which only a handful have b

158 We show here that a copy-number gain or overexpression of the membrane-type

159 e by increasing the probability of acquiring copy-number gains or losses relative to non-WGD cells.

160 phism arrays and identified 1,747 genes with copy number gain organized into 30 amplicons.

161 ar to primaries but have a greater burden of copy number gains (P < 0.0001) and increased methylation

162 , in a series of lung cancer patients, DSTYK copy number gain predicts lack of response to the immuno

163 Copy-number gains preferentially occur at late stages of

164 eterozygosity, as well as of genes that show copy-number gains, providing a potential mechanism for e

165 ll proliferation and are often driven by DNA copy-number gains selected early in tumor evolution.

166 ough there may be little bias when there are copy number gains, small biases may result when one alle

167 rdant methylation changes (hypomethylated in copy number gains such as STC2 and CCND1 and hypermethyl

168 onstrained set of driver genes, and specific copy number gains, such as trisomy 7 in glioblastoma and

169 Early detection of copy number gains suggesting a predisposition toward can

170 IF4EBP3, loss of function of TET2, and NTRK1 copy number gain, suggesting that genetic alterations un

171 ers (>60 pack-years) have significantly more copy number gains than non- or light smokers (</=60 pack

172 ALK gene copy number gain was detected in the vast majority of AR

173 OTX2 copy number gain was restricted to tumor subtypes that d

174 Copy-number gain was confirmed in an independent tumor s

175 polymorphism (SNP) risk alleles and somatic copy number gains were associated with increased LMO1 ex

176 Mutations in FOXA1 and ESR1 copy number gains were detected in 9% and 25% of the sam

177 PIK3CA copy number gains were more frequent in squamous cell ca

178 rcinoma patients is consistent with ALK gene copy number gain, whereas a stromal sarcoma patient carr

179 the tumor samples we could detect high-level copy number gains, which mapped to chromosome band 11E2,

180 Furthermore, a Yorkshire-specific copy number gain within ABCG2 is found, impacting chroma

181 The results demonstrate segmental copy number gains within chromosome 3p in cutaneous mali

182 Targeting copy number gain yielded 5/199 responses across nine bio