ライフサイエンスコーパス: allelic loss

1 blocking the proneoplastic effects of Nkx3.1 allelic loss.

2 es, including translocations, deletions, and allelic loss.

3 these 4 showed no somatic von Hippel-Lindau allelic loss.

4 ations are not simply a result of prodigious allelic loss.

5 and multiple treatments do not predispose to allelic loss.

6 ry to IDH-associated hypermethylation and 1p allelic loss.

7 -B2 overexpression, aneusomy, and pattern of allelic loss.

8 hypermethylation of its promoter region and allelic loss.

9 hat between 0.06 and 55.3% of the genome has allelic loss.

10 7 congenic rats was similar, suggesting a WF allelic loss.

11 hod for determination of global and unbiased allelic loss.

12 ors and 40 cell lines for CDC4 mutations and allelic loss.

13 was lost in eight (47%) of 17 specimens with allelic losses.

14 Of the patients with allelic loss, 3 were among the 29 patients with early-st

15 markers for the 82 xenografted cancers, with allelic loss affecting as little as 1.5% to as much as 3

16 les in miR172 target loci is associated with allelic loss, allelic changes in outcrossing A. arenosa

17 ern of deletions was not random, and 8p21-23 allelic losses always followed 3p deletions and usually

18 The mean fractional allelic loss among these human PETs is 0.126, and no cor

19 evious comparative genomic hybridization and allelic loss analyses demonstrated frequent deletions fr

20 red at the time of transplantation underwent allelic loss analysis.

21 e and that these genes may be inactivated by allelic loss and aberrant promoter methylation.

22 126, and no correlation was observed between allelic loss and clinical parameters, including age, sex

23 The relationship between allelic loss and disease-free and disease-specific survi

24 uman tumor suppressor that exhibits frequent allelic loss and downregulation in high-grade prostate c

25 ocated in the chromosome region 3p21.3 where allelic loss and genetic alterations occur early and fre

26 Frequent allelic loss and homozygous deletions within chromosome

27 These results indicate that allelic loss and mutation of a gene within the MDR is an

28 Allelic loss and mutation of this gene has been reported

29 ression in tumors, presumably as a result of allelic loss and mutational inactivation, suggest that i

30 s of this study suggest that (a) DES-induced allelic loss and mutations may be involved in DES-induce

31 , and finally, (c) The identification of the allelic loss and mutations that were common in DES-expos

32 e, where PTEN and FOXA1 are downregulated by allelic loss and site-specific DNA hypermethylation, res

33 alignancies to define chromosomal regions of allelic loss and sites of putative tumor suppressor gene

34 h the reduced p53 gene dosage because of the allelic loss and the functional inactivation of p53 prot

35 associated with elevated rates of fractional allelic loss and/or inter-(simple sequence repeat) PCR i

36 issues carrying the R804H mutation showed 2q allelic losses and higher cyclic nucleotide levels and c

37 Intense investigation of allelic losses and the discovery of overlapping homozygo

38 ed in a number of human cancers by mutation, allelic loss, and/or promoter methylation.

39 ncers lost alleles at 18q21, suggesting that allelic losses are relatively early events in the develo

40 The applicability of chromosome 9 allelic losses as non-invasive markers of urothelial neo

41 PC/beta-catenin pathway, using chromosome 5q allelic loss assays and direct DNA sequencing of the mut

42 Using direct gene sequencing and allelic loss assays at 5q, we analyzed somatic adenomato

43 ohistochemistry for beta-catenin, 5q and 11p allelic loss assays, and direct DNA sequencing of exon 3

44 Allelic loss at 11q23 was inversely related to MYCN ampl

45 The high frequent allelic loss at 1q31-32 as well as 1q21-23, which was as

46 ymerase chain reaction (PCR) for evidence of allelic loss at 39 highly polymorphic loci on the long a

47 cimens that were shown previously to exhibit allelic loss at 3p and elsewhere, were tested for LOH at

48 Together, these results indicate that allelic loss at 3p21 can affect patient outcome, and tha

49 Since allelic loss at 3p24 occurs in <25% of patients, we inve

50 The most frequent region of allelic loss at 3p24.3 in morphologically normal termina

51 Whereas most of these tumors had allelic loss at all informative markers, five tumors had

52 Previous studies have implicated allelic loss at chromosome 17q in the development of non

53 Alternating allelic loss at different tumor sites was identified in

54 Frequent allelic loss at human chromosome 11q23-q24 occurs in a w

55 Allelic loss at MYH was also assessed.

56 taplasia) specimens had clones of cells with allelic loss at one or more regions; (2) There was a pro

57 mpared to normal cells and the assessment of allelic loss at single or multiple selected loci that ar

58 protein or SMAD4 mutation, and very few had allelic loss at SMAD4 or DCC, although many of these MSI

59 ses with LOH at the AR locus showed that the allelic loss at the AR locus is not confined to the inac

60 Allelic loss at the GPC3 locus was infrequent (6.9%) in

61 Allelic loss at the MEG3 locus is also observed in menin

62 Allelic loss at the MMP-1 locus on chromosome 11 occurs

63 opment of quantitative methods for assessing allelic loss at the MMP-1 locus, and demonstrate that 83

64 Allelic loss at the short arm of chromosome 3 is one of

65 A variety of studies suggest that allelic losses at chromosome 2q are associated with aggr

66 Notably, clonal allelic losses at chromosome 3p24 and 6q24 were an early

67 tly expressed human common fragile site, and allelic losses at FRA3B have been observed in many types

68 sults with results of molecular analyses for allelic losses at loci in the regions to which the FISH

69 Allelotyping studies suggest that allelic losses at one or both arms of chromosome 4 are f

70 al positions and the frequencies of reported allelic losses at these genetic loci.

71 The consensus region of allelic loss between D1S190 and D1S447 represents approx

72 A discordant pattern of allelic loss between the ovarian and appendiceal tumors

73 for SMAD4, SMAD2, and SMAD3 and analyzed for allelic loss by single-nucleotide polymorphism (SNP) mic

74 Fractional allelic loss, calculated for each sample as the total nu

75 Allelic losses characteristic of tumor cells, when displ

76 and cytogenetic methods to determine whether allelic loss correlates with chromosomal duplication in

77 The observed patterns of allelic loss define a minimum consensus region of deleti

78 roach we identified five distinct regions of allelic losses defined by their flanking markers and pre

79 em reported here strongly suggest that early allelic losses delineated in immortalized cultures and v

80 Allelic loss encompassing the p16 locus was present sign

81 Allelic losses encompassing chromosomes 6q24-6q27, impli

82 ary tumours were allelotyped, the fractional allelic loss (FAL) at 39 autosomal arms also significant

83 Fractional allelic loss (FAL) was determined using 400 microsatelli

84 mutational profile and cumulative fractional allelic loss (FAL) were correlated with clinical and pat

85 CC-RCC tumours showing DUTT1 methylation had allelic losses for 3p12 markers hence obeying Knudson's

86 mechanism, including epigenetic changes and allelic loss, for tumor suppressor gene inactivation.

87 that there is little difference between the allelic loss frequencies of microsatellites mapping near

88 These data suggest that the high allelic loss frequencies seen at 8p23 loci are not the r

89 Allelic loss from 15q was observed in 22 of 46 (48%) cas

90 erial (also called loss of heterozygosity or allelic loss) from chromosomes 18q, 17p, and 8p; cellula

91 Twenty of 26 SCLC tumours with 3p21.3 allelic loss had RASSF1A methylation, while only six out

92 Chromosomal allelic losses have a varying frequency in colorectal ca

93 Chromosomal allelic losses have varying frequency in breast cancer,

94 Frequent allelic loss in >20% of the informative cases was observ

95 The results showed allelic loss in 17 (47%) tumors.

96 Nineteen regions of allelic loss in 17 patients (32%) were detected on chrom

97 Loss of heterozygosity analysis revealed U19 allelic loss in 19 of the 23 specimens.

98 used 23 polymorphic markers on 6q to examine allelic loss in 25 high-grade, late stage ovarian tumors

99 located between 6q25.1 and 6q26, to examine allelic loss in 54 fresh and paraffin embedded invasive

100 the LOH-associated region in colorectal FAP: allelic loss in adenomatous polyps tended to occur when

101 Analysis of allelic loss in archival tumor specimens is constrained

102 Fourteen of 16 mature teratomas showed allelic loss in at least one of six microsatellite polym

103 The remaining eight cases showed similar allelic loss in at least one of the nine DNA loci analyz

104 Twenty-two of 24 (92%) cases showed allelic loss in at least one tumor focus, including 15 o

105 17p13.3, a region which frequently undergoes allelic loss in breast and other human cancers.

106 Furthermore, the high incidence of allelic loss in breast, ovarian, prostate, and other can

107 ons) occurs is unknown; (8) Four patterns of allelic loss in clones were found.

108 n chromosome 9q, previously shown to exhibit allelic loss in colorectal cancer (CRC).

109 s and aid the understanding of mechanisms of allelic loss in human carcinogenesis.

110 The frequency of allelic loss in mature teratoma was 50% (7 of 14) with D

111 six chromosome regions, which are common for allelic loss in melanoma tumors, in 57 patients undergoi

112 Loss of Apaf-1 expression is accompanied by allelic loss in metastatic melanomas, but can be recover

113 n shown to be common sites of karyotypic and allelic loss in MM, our comparative genomic hybridizatio

114 Fourteen of 16 (88%) cases showed allelic loss in one or more components of the mixed germ

115 All tumors showed allelic loss in one or more loci of both the epithelial

116 m of chromosome 10 is frequently affected by allelic loss in prostate cancer.

117 ith hyperplastic polyposis and chromosome 1p allelic loss in some HPs, in contrast to patients who ha

118 of cervical cancer has demonstrated frequent allelic loss in the 3p chromosomal region.

119 ity, 8 cases showed the identical pattern of allelic loss in the epithelial cells of the adjacent ter

120 The frequency of allelic loss in the epithelial component was 2 of 5 (40%

121 The frequency of allelic loss in the stromal component was 2 of 5 (40%) a

122 anges and microsatellite analysis to examine allelic loss in the vicinity of PTEN/MMAC1.

123 ion (codons 1,194-1,392 at most) mainly show allelic loss in their colorectal adenomas, in contrast t

124 cal atrophy and PIN but is not related to 8p allelic loss in these lesions.

125 The minimum region of allelic loss in UPSC is defined by D1S190 and D1S447, an

126 Many distinct regions of 3p show frequent allelic losses in a wide range of tumour types.

127 In addition, allelic losses in both dysplastic and corresponding inva

128 n 16q23.3-24.1, an area commonly affected by allelic losses in breast cancer.

129 q21, a region that shows high frequencies of allelic losses in pancreatic and colorectal adenocarcino

130 hat they are not targets for inactivation by allelic losses in prostate cancer.

131 responding tumor; (7) Nevertheless, when the allelic losses in the 30 clonally independent lesions an

132 Allelic losses in the long arm of chromosome 9 are commo

133 Two PMP cases showed identical allelic losses in the matched ovarian and appendiceal tu

134 Allelic losses in the proximity of the PTEN locus (10q23

135 ne of 11 pancreatic cancer xenografts having allelic loss) in FBXW7, which was accompanied by cyclin

136 at disruption of PTEN by several mechanisms, allelic loss, intragenic mutation, or epigenetic silenci

137 Chromosome 18q allelic loss is a prognostic marker in colorectal cancer

138 Allelic loss is an important mutational mechanism in hum

139 owed that although RASA1 mutations are rare, allelic loss is frequent, particularly in basal tumors (

140 Although loss of heterozygosity or allelic loss is frequently identified among prostate can

141 To examine whether allelic loss is of prognostic importance in melanoma, di

142 Allelic loss is selected strongly in cells with one muta

143 The pattern of allelic loss is significantly different in both stroma a

144 The frequent allelic loss (LOH) in the mammary stroma, identified in

145 py number polymorphism (SNP) microarrays for allelic loss (LOH).

146 All the specimens with allelic losses lost at least one allele within chromosom

147 Chromosomal regions with frequent allelic loss may point to major susceptibility genes tha

148 t also suggests that in HPV-negative tumors, allelic loss may predate the onset of invasive carcinoma

149 -regulation of MKK4 protein is the result of allelic loss, metastatic prostate cancer lesions were ex

150 Even in the presence of allelic loss, NKX3.1 expression is reduced over a wide r

151 n = 17), in all other parameters (fractional allelic loss, number of breakpoints, and number of micro

152 Although many regions of allelic loss occur in glioblastomas, relatively few tumo

153 ine and somatic mutations (or, infrequently, allelic loss) occur in tumors in FAP (familial adenomato

154 3) The earliest and most frequent regions of allelic loss occurred at 3p21, 3p22-24, 3p25 and 9p21; (

155 Genetic analysis indicated that allelic loss occurred in a subset of tumor cells, sugges

156 On multiple variable analysis, P16 allelic loss (odds ratio [OR], 0.32; 95% confidence inte

157 Allelic loss of 10q is a common genetic event in maligna

158 r gene amplification, decreased incidence of allelic loss of 10q, increased frequency of TP53 mutatio

159 in DNA extracted from 33 tumor samples with allelic loss of 17p13, including 10 medulloblastoma, 14

160 Allelic loss of 17p13.3 is observed in approximately 40%

161 d for alterations in a panel of gliomas with allelic loss of 19q.

162 s in all cases, with an overall frequency of allelic loss of 90% (18 of 20 cases).

163 Allelic loss of a portion of chromosome 18q and lack of

164 situ hybridization analysis demonstrated an allelic loss of an NOL7 in cultured tumor cells and huma

165 Here we show that allelic loss of beclin1 and defective autophagy sensitiz

166 Myc transgene displayed embryonic lethality, allelic loss of Bif-1 dramatically accelerated the onset

167 Consistently, allelic loss of Bif-1 suppressed the activation of caspa

168 actor for survival, and adenocarcinomas with allelic loss of both 17p and 18q had worse survival than

169 an disease, specifically a high frequency of allelic loss of chromosome 16q, which is syntenic to mou

170 (92% vs. 53%, P = 0.0001), but less frequent allelic loss of chromosome 1p (4% vs. 17%, P = 0.03).

171 ons in 20 primary head and neck cancers with allelic loss of chromosome 8p.

172 Allelic loss of chromosome region 3p21.3 occurs early an

173 are chemosensitive and this correlates with allelic loss of chromosomes 1p and 19q.

174 We compared the genomic fractional allelic loss of each xenografted cancer with known clini

175 These combined data suggest that bi-allelic loss of ENG or ACVRL1 may be a required event in

176 We determined an allelic loss of expression of the CLDN14 gene isoform at

177 rase chain reaction (PCR) was used to assess allelic loss of five chromosome 18q microsatellite marke

178 Bi-allelic loss of function variants in TMC6, TMC8, and CIB

179 ic loss of XPC in most human lung tumors and allelic loss of Gadd45a in some human lung and other can

180 tes the utility of a tSNP-based detection of allelic loss of gene expression in studies involving chr

181 Allelic loss of intron 5 of the FHIT gene was detected i

182 Allelic loss of Nkx3.1 caused reduced levels of Nkx3.1 p

183 iated with elevated rates of chromothripsis, allelic loss of PTEN and shorter telomeres.

184 We show that mono-allelic loss of pten in the probasin-driven-ErbB-2 model

185 Acquired bi-allelic loss of PTEN was found in one of these patients,

186 gosity results, 6 had evidence of hemizygous allelic loss of PTEN while the remaining 7 had intact PT

187 Recent studies suggest that allelic loss of sequences from the long arm of chromosom

188 ed that Dax1 deficiency would compensate for allelic loss of Sf1.

189 in cancer cells and detectable by analyzing allelic loss of single nucleotide polymorphism and/or sh

190 Unexpectedly, allelic loss of the autophagy regulator Beclin-1 signifi

191 Allelic loss of the chromosome 19q arm is a frequent eve

192 Allelic loss of the essential autophagy gene beclin1 occ

193 ine skin lesions from patients with MEN1 for allelic loss of the MEN1 gene.

194 Southern blotting demonstrated the allelic loss of the p53 gene, which resides on mouse chr

195 cases with CDKN2A/p16 alterations, none had allelic loss of the RB gene and all expressed pRb, sugge

196 Fluorescence in situ hybridization showed allelic loss of the rb gene in 10 (40%) of 25 tumors ana

197 inomas containing a Kras2 mutation exhibited allelic loss of the wild-type Kras2 allele when a correl

198 rcinoma but not in hamartomas, implying that allelic loss of these two regions corresponds to late mo

199 r, and to determine the extent and timing of allelic loss of two DNA mismatch repair genes, human Mut

200 In most cases this is associated with allelic loss of wildtype Apc.

201 Allelic loss of wildtype Kras2 was found in 67% to 100%

202 Analysis of published data indicated allelic loss of XPC in most human lung tumors and alleli

203 q, increased frequency of TP53 mutations and allelic losses of 1p and 19q, and longer patient surviva

204 Allelic losses of 3p were detected in 96% of the lung ca

205 Allelic losses of chromosome 9 were associated with expa

206 DNA replication errors and allelic losses of chromosomes 17p, 18q, and 5q were stud

207 We analyzed K-ras mutations and allelic losses of chromosomes 18q, 17p, 5q, and 6q in a

208 Allelic losses of individual markers were related to mic

209 These were associated with allelic losses of the mouse chromosome 11 Prkar1a locus,

210 Allelic losses of the q13.3 region of chromosome 19 have

211 Crucially, allelic losses of this region were not identified in con

212 We identified bi-allelic loss-of-function (LoF) variants in Oxidative Res

213 We report bi-allelic loss-of-function CACNA1B variants in six childre

214 y CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating wit

215 Bi-allelic loss-of-function mutations in genes required for

216 MMAF-affected individuals, we identified bi-allelic loss-of-function mutations in more than 30% of t

217 Taken together, our results implicate bi-allelic loss-of-function NUP188 variants in a recessive

218 Bi-allelic loss-of-function variants in CACNA1B are predict

219 al and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented

220 Bi-allelic loss-of-function variants in genes that encode s

221 Genomic analysis revealed bi-allelic loss-of-function variants in SMPD4, coding for t

222 Nearly 3% of the human population carries bi-allelic loss-of-function variants in the gene encoding C

223 ncing, we identified the first human with bi-allelic loss-of-function variants in the gene IREB2 lead

224 a severe neurological disorder caused by bi-allelic loss-of-function variants in thioredoxin (TRX)-r

225 Here, we report bi-allelic loss-of-function variations in SMO in seven indi

226 Here, we report a human patient with bi-allelic, loss-of-function mutations in PIK3CG resulting

227 on even in low histological grade DCIS, this allelic loss often appears to be preceded by loss of oth

228 Samples with allelic loss on 10q were analyzed for abnormalities of t

229 otal of 13% of tumors demonstrated recurrent allelic loss on 18q, with 18q21.1-q21.2 being defined as

230 Allelic loss on 1p and 9p were found in all stages of my

231 Allelic loss on 1p was observed in 14 of the 30 individu

232 ion was available for many of our cases with allelic loss on 6q, 7p, 10p, 11q, 14q, and 20q, no delet

233 We identified a 1.5-Mb common region of allelic loss on 8p22 by allelotype analysis.

234 yping study by our group identified frequent allelic loss on 9p, 10q, and 17p including losses on 9p2

235 analysis was informative in 73 of 76 cases: allelic loss on 9p21 was identified in 18 patients (25%)

236 We observed a frequency of allelic loss on chromosomal arm 3p in 24% of cases.

237 Allelic loss on chromosome 11p was the most common genet

238 Allelic loss on chromosome 11p was the most common genet

239 ions in the APC/beta-catenin pathway and for allelic loss on chromosome 11p.

240 Allelic loss on chromosome 12 occurred at a frequency of

241 cinoma (ESCC) have shown a high frequency of allelic loss on chromosome 13q, infrequent somatic mutat

242 his study was to define the target region of allelic loss on chromosome 22q in human colorectal carci

243 have been able to map a new target region of allelic loss on chromosome 22q involved in colorectal ca

244 6 tumors showed variable patterns of partial allelic loss on chromosome 22q, thereby localizing a min

245 ve recently demonstrated a high frequency of allelic loss on chromosome arm 11p and mutations in the

246 on of tandem repeats to study the pattern of allelic loss on chromosome X11.2-q12 in borderline and i

247 fuse gliomas, we localized regions of common allelic loss on chromosomes 1 and 19 and assessed the as

248 In this study, we determined allelic loss on chromosomes 5 and 6 in 29 primary early-

249 hus, we performed a comprehensive survey for allelic loss on our panel of xenografted human gastric c

250 ect of cigarette smoking on the frequency of allelic losses on chromosome 9p21 and the incidence of p

251 In addition, allelic losses on chromosomes 12 and 14 were significant

252 Allelic losses on the short arm of chromosome 8 (8p) hav

253 h APC mutation only, and three cases with 5q allelic loss only.

254 The FAL (fractional allelic loss or gain) is defined as the percentage of ch

255 Allelic loss or imbalance was observed in 38 (54%) cance

256 Allelic losses or gains at chromosomal arms 3p (37 versu

257 on cancer, may be more important than either allelic losses or inactivating mutations.

258 dly abnormal foci had a negative pattern (no allelic loss) or early pattern of loss while all foci of

259 d worse survival than cancers with no or one allelic loss (P = 0.002).

260 s other coexisting tumors displayed the same allelic loss pattern.

261 Completely concordant allelic loss patterns between mature teratoma and all of

262 Three patients showed different allelic loss patterns in the two tumor types at a single

263 We extend the evaluation of allelic loss patterns on chromosome 17 to papillary sero

264 thelium statistically; completely concordant allelic loss patterns were not seen in any tumor examine

265 splasias demonstrated the entire spectrum of allelic loss patterns, and were the only histologic cate

266 Allelic losses picked at D18S51 (19%) and D18S858 (17%).

267 bar form (T4), sufficient discordance in the allelic loss profile enabled a more accurate T-stage cla

268 ically, we found that the cumulative size of allelic losses ranged from 58 to 1160 cM, with an averag

269 Instability quantitated by fractional allelic loss rates was found to be independent of that d

270 Allelic losses reported in this cell line preceded detec

271 le nucleotide polymorphism sites, to compare allelic loss results obtained from both formalin-fixed a

272 A mapping of individual loci of allelic loss revealed 11 "hot spots" of loss of heterozy

273 An alternative hypothesis based on allelic loss studies in colorectal adenomas proposes tha

274 1p deletion in neuroblastomas, we performed allelic loss studies of 737 primary neuroblastomas and g

275 Previous cytogenetic and allelic loss studies of PRCC cases revealed gain of chro

276 Allelic loss studies on laryngeal and oral/oropharyngeal

277 sm of Apc mutation in tumors is altered from allelic loss to intragenic mutation as a result of Mlh1

278 tion (truncating intragenic mutation plus 5q allelic loss), two cases with APC mutation only, and thr

279 The study revealed a degree of allelic loss underestimated by routine cytogenetic analy

280 d 60 cases of infiltrating ductal cancer for allelic loss using 14 microsatellite markers mapped to t

281 Tumors were also analyzed for allelic loss using microsatellite markers located in or

282 We compared the pattern of allelic loss using nine microsatellite DNA markers (D9S1

283 The average genomic fractional allelic loss was 15.3% of all tested markers for the 82

284 Chromosome 18q allelic loss was a negative prognostic indicator of both

285 Allelic loss was also significantly associated with loss

286 Allelic loss was evaluated at 1,168 marker loci, with la

287 Allelic loss was identified in 10 samples, all of which

288 in carcinoma was correlated with 8p loss and allelic loss was inversely related to Gleason pattern.

289 tment for all other evaluated factors, 18q21 allelic loss was not a predictor of survival (hazard rat

290 However, allelic loss was observed at the TP53 gene in 25% of inf

291 with evidence of microsatellite instability, allelic loss was observed in 11 of the informative tumor

292 A nearly identical pattern of allelic loss was observed in the two tumor types in all

293 Allelic loss was present in 45% of patients with mycosis

294 ith progressive histologic changes; (5) TP53 allelic loss was present in many histologically advanced

295 Fractional allelic loss was significantly higher in those with dysp

296 Importantly, the pattern of allelic loss was uniform in 8 of these 9 tumors, suggest

297 Allelic losses were nonrandomly distributed across the g

298 omatic mutations of PTEN and NF2, as well as allelic loss, were investigated by direct sequencing of

299 or the analysis of LOH, was used to evaluate allelic losses with the use of 21 highly polymorphic mic

300 om this region to examine leukemia cells for allelic loss within 7q22.