ライフサイエンスコーパス: germ-line mutation

1 Hippel-Lindau (VHL) disease is caused by VHL germ line mutation.

2 t (3.4%) was found to have an additional APC germ line mutation.

3 as no family history of Rb, indicating a new germ line mutation.

4 werful tool for monitoring radiation-induced germ-line mutation.

5 predisposition in carriers of Chk2 and BRCA1 germ line mutations.

6 an be linked to either dominant or recessive germ line mutations.

7 ority of cases, there is no link to specific germ line mutations.

8 cinomas of three patients were identified as germ-line mutations.

9 lopment of immunodeficiency diseases, due to germ-line mutations.

10 associated with a high percentage of de novo germ-line mutations.

11 tients for chromosome 10q23 deletion or PTEN germ-line mutations.

12 n breast cancer and discovered two rare FHIT germ-line mutations.

13 ven of the 33 cases (33%) were found to have germ-line mutations.

14 formation to identify the parental origin of germ-line mutations.

15 g sophisticated technologies for engineering germ-line mutations.

16 0%) and harbored either a TERT (45%) or TERC germ line mutation (32%).

17 In addition to these germ-line mutations, a somatic mutation was found in the

18 Germ line mutation analysis was performed using a panel

19 These included one patient with a germ line mutation and two patients with de novo p53 mut

20 Only one of the eight patients had a BRCA1 germ-line mutation and none had BRCA2 mutations, but FAN

21 his context, we evaluated the association of germ-line mutations and common MSR1 sequence variants wi

22 Both rare germ-line mutations and common sequence variants of the

23 The other five mutations are novel germ-line mutations and include missense mutations at co

24 ced this gene in 96 HPC probands to identify germ-line mutations and sequence variants.

25 rve as a "first hit," much like an inherited germ line mutation, and promote tumor progression down a

26 Data from HIV coinfections, germ line mutations, and case reports suggest involvemen

27 n clinically sporadic pancreatic cancer, but germ-line mutations are either not reported or anecdotal

28 Three hundred fifteen women with documented germ-line mutations associated with the Lynch syndrome w

29 Apc(Min/+) mice, which carry a heterozygous germ line mutation at codon 850 of Apc, there is progres

30 Because germ-line mutations at LKB1/STK11 result in the Peutz-Je

31 rmed serially in individuals harboring a p16 germ-line mutation bestowing a high risk for pancreatic

32 dentified a bladder tumor patient carrying a germ-line mutation but with no symptoms of TSC.

33 We did not detect germ-line mutations by single-stranded conformational po

34 Although germ line mutations can be incorporated by means of embr

35 Breast tumors from BRCA1 germ line mutation carriers typically exhibit features o

36 Options available for germ-line mutation carriers, in addition to cancer scree

37 ic heterogeneity such that specific missense germ-line mutations confer a high risk for this complica

38 indicated that the retained allele carried a germ-line mutation, confirming that STK11 is a tumor sup

39 ns in 11.1% (7.8% clonal, 1.3% subclonal, 2% germ line mutations considered pathogenic), SF3B1 mutati

40 racheoesophageal fistula are associated with germ-line mutations/deletion of genes encoding hedgehog

41 t from proteolysis, splicing (SMNDelta7), or germ-line mutations (e.g., Y272C), produce a proapoptoti

42 onstitutive tissue of the patient carrying a germ-line mutation for mismatch repair, suggesting both

43 ny of six mlh1 missense mutations that mimic germ line mutations found in human cancer patients displ

44 lder, no direct molecular measurement of the germ-line mutation frequency has been made to confirm th

45 of breast orovarian cancer.Patients carrying germ-line mutations had improved rates of progression-fr

46 Two germ-line mutations have arisen in members of one branch

47 isplays strong heritability, no predisposing germ-line mutations have been found.

48 The Min mouse, which has a germ line mutation in 1 allele of the Apc tumor suppress

49 ere able to assign a causal or likely causal germ line mutation in 86 patients (48.0%), involving a t

50 of retinoblastoma (Rb) is associated with a germ line mutation in one RB allele and is characterized

51 The combination of Mbd4 deficiency with a germ line mutation in the adenomatous polyposis coli (Ap

52 To determine the role of the Cdk4(R24C) germ line mutation in the genesis of other cancer types,

53 cyte cilia and that disruption of Pkhd1 by a germ line mutation in the PCK rat or by siRNA in IBDUs r

54 that neuroblastoma susceptibility is due to germ line mutations in a tumor suppressor gene.

55 lycystic kidney disease (ADPKD) is caused by germ line mutations in at least three ADPKD genes.

56 Rare, highly penetrant germ line mutations in BRCA1 strongly predispose women t

57 Further, because germ line mutations in BRCA1 yield breast cancers that a

58 Germ line mutations in BRCA2 gene predispose women to ea

59 Germ line mutations in CHEK2, the gene that encodes the

60 Germ line mutations in DNA mismatch repair genes includi

61 Germ line mutations in ETV6 are responsible for a famili

62 GT198 has germ line mutations in familial and early onset breast a

63 Affected individuals carry germ line mutations in folliculin (FLCN), a tumor suppre

64 Conversely, germ line mutations in GATA2 are associated with GATA2 d

65 Here, it is shown that heterozygous germ line mutations in hCHK2 occur in Li-Fraumeni syndro

66 Germ line mutations in LKB1 cause PJS.

67 part of the MEN1 syndrome that is caused by germ line mutations in MEN1.

68 or ETAA1 in this process by surveying random germ line mutations in mice using exome sequencing and b

69 tumors from HNPCC patients is attributed to germ line mutations in mismatch repair (MMR) genes, soma

70 explanation why, among MutL homologues, only germ line mutations in MLH1 are common in hereditary non

71 th MSI-positive tumors underwent testing for germ line mutations in MLH1, MSH2, MSH6, and PMS2.

72 ent models describing the mechanism by which germ line mutations in MMR genes predispose kindreds to

73 In addition, mice that carry linked germ line mutations in Nf1 and p53 develop malignant per

74 Germ line mutations in one of two distinct genes, endogl

75 ity may be relevant to cancer in humans with germ line mutations in only one MLH1 allele.

76 icated in homologous recombination (HR), and germ line mutations in RAD51C are known to cause Fanconi

77 Twelve patients had germ line mutations in SDHB, 17 in SDHD, and 5 carried n

78 Germ line mutations in several genes (BRCA1, BRCA2, and

79 Germ line mutations in the Adenomatous polyposis coli tu

80 al adenomatous polyposis (FAP) coli who have germ line mutations in the APC gene.

81 In addition, germ line mutations in the BRCA2/FANCD1 Fanconi anemia c

82 Germ line mutations in the breast cancer susceptibility

83 subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC

84 Germ line mutations in the LKB1 tumor suppressor gene ar

85 To aid phenotype screening of germ line mutations in the lymphoid system, we developed

86 fective method for genome-wide assessment of germ line mutations in the lymphoid system.

87 lent familial cancer syndrome resulting from germ line mutations in the NF1 tumor suppressor gene.

88 In addition, germ line mutations in the PTEN gene also play a major r

89 Germ line mutations in the PTPN11 gene responsible for c

90 Genetic studies have demonstrated that germ line mutations in the ret oncogene are the direct c

91 ying the PGL1 gene, described here, revealed germ line mutations in the SDHD gene on chromosome 11q23

92 Li-Fraumeni syndrome (LFS) patients harbor germ line mutations in the TP53 gene and are at increase

93 ate are associated with dominantly inherited germ line mutations in the tumor suppressor gene TP53 (p

94 Patients with germ line mutations in the VHL tumor suppressor gene are

95 Individuals bearing germ line mutations in the Von Hippel-Lindau (VHL) tumor

96 Naturally occurring germ line mutations in the X-linked human androgen recep

97 Tissue-specific tumor predisposition from germ line mutations in ubiquitously expressed genes such

98 A germ-line mutation in a Drosophila hnRNP, Squid (Sqd)/hr

99 Approximately half of DBA patients have a germ-line mutation in a ribosomal protein gene.

100 hyltransferase 1 (DNMT1) gene in mice with a germ-line mutation in a tumor suppressor gene was shown

101 sporadic serous ovarian carcinoma, whereas a germ-line mutation in BRCA1 is the most important risk f

102 combined immunodeficient (SCID) mice carry a germ-line mutation in DNA-PK, associated with deficiency

103 match repair attributable to the presence of germ-line mutation in either hMLH1 or hMSH2.

104 Fourteen of 48 of the families had a germ-line mutation in either MSH2 or MLH1 that could be

105 Only 1 of the 15 cases with a germ-line mutation in hMLH1 had a mutation in BRAF.

106 m-positive, late-onset family showed a novel germ-line mutation in MSH6 (deletion of CT at nucleotide

107 indings characteristic of CD, demonstrated a germ-line mutation in PTEN that was passed to identical

108 pacity for fibrin polymer formation due to a germ-line mutation in the Aalpha chain thrombin cleavage

109 amilial adenomatous polyposis is caused by a germ-line mutation in the adenomatous polyposis coli gen

110 Women who have inherited a germ-line mutation in the BRCA1 or BRCA2 (BRCA1/2) genes

111 Our data suggest that a germ-line mutation in the BRCA1 tumor suppressor gene is

112 We also identified a germ-line mutation in the miR-16-1-miR-15a primary precu

113 A germ-line mutation in the p53 gene at nucleotide 13964 w

114 with C57BL/6J mice to investigate whether a germ-line mutation in the p53 gene predisposes for tumor

115 dolescent, and adult cancers associated with germ-line mutation in the TP53 tumor suppressor gene.

116 eiomyomas from the Eker rat, which carries a germ-line mutation in the tuberous sclerosis complex-2 (

117 RAD51, RAD52, and RAD54 for the presence of germ-line mutations in 100 cases with early-onset breast

118 ennsylvania groups reported the detection of germ-line mutations in 100% (93 of 93) of VHL families s

119 parallel genomic sequencing, we screened for germ-line mutations in 21 tumor suppressor genes in geno

120 our families with CS have been shown to have germ-line mutations in a gene known as "PTEN," or "MMAC1

121 Germ-line mutations in bone morphogenic protein type II

122 observed during carcinogenesis.Mice carrying germ-line mutations in both Rb and p53 or Msh2 and p53 d

123 Children born with germ-line mutations in BRAF, MEK1 or MEK2 develop cardio

124 Carriers of germ-line mutations in BRCA1 and BRCA2 from families at

125 al features of breast cancer associated with germ-line mutations in BRCA1 and BRCA2, invasive tumors

126 Estrogen exposure in women who carry germ-line mutations in BRCA1 may always increase breast

127 Germ-line mutations in BRCA1 predispose individuals to b

128 Germ-line mutations in BRCA2 account for approximately h

129 Germ-line mutations in BRCA2 contribute to fewer cases o

130 Germ-line mutations in BRCA2 have been linked to early-o

131 Both 1100delC and R145W germ-line mutations in CHK2 are associated with loss of

132 consistent with other studies, we show that germ-line mutations in Chk2 are unlikely to account for

133 Germ-line mutations in components of the Ras/MAPK pathwa

134 model predisposed to cancer and suggest that germ-line mutations in decorin and p53 may cooperate in

135 cer (CRC), especially among individuals with germ-line mutations in DNA mismatch repair genes.

136 ancer but unselected for family history, for germ-line mutations in exon 2 of BRCA1, by SSCP analysis

137 edical genetics syndromes that are caused by germ-line mutations in genes that encode components or r

138 To establish whether germ-line mutations in HIN-1 may influence breast cancer

139 arently sporadic parathyroid carcinoma carry germ-line mutations in HRPT2 and may have the HPT-JT syn

140 eral studies determined the frequency of VHL germ-line mutations in individuals with a single manifes

141 k factor, particularly in families harboring germ-line mutations in INK4a/ARF.

142 RRS families, although the incidence of PTEN germ-line mutations in JPS might be more rare than that

143 We establish that germ-line mutations in Kcp in Xenopus lead to valve defe

144 We have previously established germ-line mutations in mice in the genes that encode the

145 Germ-line mutations in MLH1 lead to the cancer susceptib

146 available were evaluated for the presence of germ-line mutations in MSH2 and MLH1, tumor microsatelli

147 loss of expression of MLH1 but did not have germ-line mutations in MSH2 or MLH1 that could be detect

148 pression did not identify all samples having germ-line mutations in MSH2 or MLH1, because in five cas

149 genetically heterogeneous disorder caused by germ-line mutations in one of several DNA mismatch repai

150 In VHL, germ-line mutations in one of the three exons of the VHL

151 ismatch repair genes, MSH2 and MLH1, whereas germ-line mutations in other mismatch repair genes are r

152 We screened for germ-line mutations in p16 and in two other candidate me

153 Germ-line mutations in PALB2 lead to a familial predispo

154 probands of linked families was examined for germ-line mutations in PODXL.

155 whether there is a synergy between these two germ-line mutations in promoting carcinogen-induced lung

156 Germ-line mutations in PTEN are responsible for Cowden d

157 Germ-line mutations in PTEN give rise to several related

158 Germ-line mutations in PTEN have also been described in

159 In addition, germ-line mutations in PTEN result in the dominantly inh

160 Germ-line mutations in PTEN, a tyrosine phosphatase and

161 l DBA causative gene, RPS29, and showed that germ-line mutations in RPS29 can cause a defective eryth

162 Germ-line mutations in SAMHD1 have been described in pat

163 ir (originating from both somatic as well as germ-line mutations in several of the mismatch repair ge

164 Germ-line mutations in SHP2 cause clinically similar LEO

165 sequencing of 539 CLL samples revealed five germ-line mutations in six samples (1%) in miR-3676.

166 Germ-line mutations in SMAD4 (DPC4) account for about a

167 imit tissue renewal capacity in the lung and germ-line mutations in telomerase components, hTERT and

168 gned to screen for all possible heterozygous germ-line mutations in the 9.17-kb coding region of the

169 Germ-line mutations in the APC gene cause adenomatous po

170 Germ-line mutations in the base-excision-repair gene MYH

171 ung cysts, and renal neoplasia, is caused by germ-line mutations in the BHD(FLCN) gene, which encodes

172 Heterozygous germ-line mutations in the bone morphogenetic protein ty

173 Germ-line mutations in the BRCA1 and BRCA2 genes predisp

174 hough it is well established that women with germ-line mutations in the BRCA1 gene have a greatly inc

175 Germ-line mutations in the BRCA1 gene predispose affecte

176 Germ-line mutations in the BRCA1 tumor-suppressor gene a

177 Heterozygous carriers of germ-line mutations in the BRCA2/FANCD1, PALB2/FANCN and

178 Any one of four germ-line mutations in the C-terminal region found in pa

179 Germ-line mutations in the cyclin-dependent kinase (CDK)

180 The majority of HNPCC results from germ-line mutations in the DNA mismatch repair (MMR) gen

181 Heterozygosity for germ-line mutations in the DNA mismatch repair gene MSH2

182 To investigate the role of germ-line mutations in the etiology of pancreatic cancer

183 In this study, we identify somatic and germ-line mutations in the gene encoding for polypeptide

184 Germ-line mutations in the genes hTERT and hTR, encoding

185 Germ-line mutations in the human BRCA2 gene confer susce

186 s from Southern California were analyzed for germ-line mutations in the inherited breast/ovarian canc

187 Germ-line mutations in the mismatch-repair genes MLH1, M

188 microsatellite instability, we searched for germ-line mutations in the MLH1, MSH2, MSH6, and PMS2 ge

189 Confirmed germ-line mutations in the p53 tumor-suppressor gene hav

190 About 50% of BRRS and >80% of CD demonstrate germ-line mutations in the tumor suppressor and dual pho

191 Germ-line mutations in the tumor suppressor gene APC are

192 s affected with HPRC have been shown to have germ-line mutations in the tyrosine kinase domain of the

193 von Hippel-Lindau (VHL) disease is caused by germ-line mutations in the VHL tumor suppressor gene and

194 P), who are deficient in DNA repair and have germ-line mutations in the XPB or XPD gene, but not in t

195 or ACVR1B (0 of 29), making it unlikely that germ-line mutations in these genes account for a signifi

196 h early-onset breast cancer, suggesting that germ-line mutations in this gene do not appear to be com

197 Germ-line mutations in this gene, STK11, were identified

198 cer phenotype, most commonly associated with germ-line mutations in TP53.

199 processes, we generated mice homozygous for germ-line mutations in which the core sequences of iEmu

200 The frequency of BRCA1 and BRCA2 germ-line mutations in women with ovarian cancer is uncl

201 Germ-line mutations inactivating BRCA2 predispose to can

202 in the EXT1 gene have been identified--four germ-line mutations, including two unrelated families wi

203 Germ-line mutation induction at mouse minisatellite loci

204 , in virtually all cases, arise from de novo germ-line mutations inherited from their fathers rather

205 in the normal allele of cells containing the germ line mutation initiate or accelerate formation of c

206 Nearly all BRCA1 germ-line mutations involve truncation or loss of the C-

207 umor induction, to investigate whether a p53 germ-line mutation is a predisposing gene for carcinogen

208 ike behaviors, we used male mice that bear a germ-line mutation knocked into the X-linked Mecp2 locus

209 idence indicates that individuals with a p53 germ-line mutation (Li-Fraumeni syndrome) have a 50% ris

210 an excellent model for human carriers of p53 germ-line mutations (Li-Fraumeni syndrome).

211 Germ-line mutations, mainly point mutations, that lead t

212 A PTEN-mutant (germ-line mutation) MI-negative CAH was synchronous with

213 The discovery of mismatch repair germ-line mutations (most commonly MSH2 or MLH1) has add

214 previously suggested as a predictor of MSH6 germ-line mutations; no mutations were found.

215 Seven PTEN germ-line mutations occurred, five nonsense and two miss

216 , an N-ethyl-N-nitrosourea-induced recessive germ line mutation of C57BL/6 mice, impairs the clearanc

217 Individuals carrying a germ line mutation of the breast cancer susceptibility g

218 Germ line mutation of the GCNF gene proves that the orph

219 Cell, Nacerddine et al. describe a targeted germ line mutation of the mouse SUMO-specific E2 Ubc9, w

220 se is a hereditary cancer syndrome caused by germ line mutation of the von Hippel-Lindau tumor suppre

221 Germ line mutations of INI1 have been identified in chil

222 Germ line mutations of PTEN have been detected in three

223 Germ line mutations of the BRCA1 gene increase the risk

224 Germ line mutations of the gene encoding the tricarboxyl

225 Germ-line mutation of genes in this pathway may result i

226 Homozygosity for an inactivating germ-line mutation of p53 had no effect on the incidence

227 vous system malignancies, is associated with germ-line mutation of ptc.

228 Germ-line mutation of PTEN as a cause for JPS in a child

229 is of TCS we generated a mouse model through germ-line mutation of Tcof1.

230 is an autosomal dominant disease caused by a germ-line mutation of the adenomatous polyposis coli (AP

231 Familial adenomatous polyposis (FAP), due to germ-line mutation of the adenomatous polyposis coli (AP

232 n/+)-derived epithelium, confirming that the germ-line mutation of the mApc gene is necessary to init

233 mal dominant cancer-prone disorder caused by germ-line mutation of the phosphatase and tensin homolog

234 Human germ-line mutation of the retinoblastoma susceptibility

235 Germ-line mutation of the von Hippel-Lindau (VHL) gene p

236 Germ-line mutation of this gene has been associated with

237 In humans, germ-line mutations of APC are associated with colorecta

238 othesis that ovarian cancers associated with germ-line mutations of BRCA1 have distinct clinical and

239 mary epithelial ovarian cancer found to have germ-line mutations of BRCA1.

240 We identified 53 patients with germ-line mutations of BRCA1.

241 Germ-line mutations of INI1 were identified in four chil

242 thrombocytosis presenting novel heterozygous germ-line mutations of JAK2.

243 Germ-line mutations of MMR genes in the patients with he

244 nonpolypotic colon cancer families in which germ-line mutations of MSH2 and MLH1 had been excluded w

245 Although germ-line mutations of other NHEJ factors abrogate lymph

246 Germ-line mutations of phosphatase and tensin homolog, d

247 skeletal abnormalities in patients carrying germ-line mutations of PTEN.

248 Additionally, germ-line mutations of PTEN/MMAC1 are responsible for se

249 Recently, germ-line mutations of SDHD, a mitochondria complex II g

250 ase and MEN-2 were diagnosed on the basis of germ-line mutations of the appropriate genes.

251 Germ-line mutations of the BRCA1 gene predispose women t

252 Women with germ-line mutations of the BRCA1 tumor suppressor gene a

253 t and ovarian cancer are often attributed to germ-line mutations of the BRCA1 tumor suppressor gene.

254 Germ-line mutations of the BRCA2 tumor suppressor gene g

255 ncer in women, recent evidence suggests that germ-line mutations of the breast cancer susceptibility

256 hree human diseases that are associated with germ-line mutations of the genes encoding the two essent

257 However, our data also suggest that germ-line mutations of the HPC2/ELAC2 are rare in HPC an

258 Germ-line mutations of the LKB1 gene cause Peutz-Jeghers

259 ullary thyroid neoplasms are associated with germ-line mutations of the RET proto-oncogene, yet very

260 Germ-line mutations of the TSC2 tumour suppressor gene h

261 Although germ-line mutations of this gene rarely occur in the pop

262 The impact of germ-line mutation on response requires further investig

263 on testing, and nine of them had deleterious germ line mutations (one MLH1, three MSH2, and five MSH6

264 Here we show that p53 deficiency, caused by germ-line mutation or by pifithrin-alpha, an inhibitor o

265 promote intestinal carcinogenesis induced by germ-line mutations or chronic inflammation.

266 s promote cancer progression--inheritance of germ-line mutations or polymorphisms, sporadic mutagenes

267 Here we report that germ line mutation Ptpn11(D61G) in mice aberrantly accel

268 at codon 267 on the p53 allele harboring the germ-line mutation R283H, whereas the second somatic mut

269 ellite is extremely hypervariable, showing a germ line mutation rate of 2.5%/gamete.

270 g for heteroplasmies, we estimated the mtDNA germ-line mutation rate at 1.3 x 10(-8) (interquartile r

271 episode of somatic gene expression, with the germ-line mutation rate per cell division evolving downw

272 tic mutations contribute little to the human germ-line mutation rate.

273 ncluded in calculations of radiation-induced germ-line mutation rates.

274 cloned from chromosome 22q; most identified germ-line mutations result in a truncated protein and se

275 ecently, a report describing EGFR-T790M as a germ-line mutation suggested that this mutation may be a

276 nearly all cell lines, including those with germ-line mutations, suggests the possibility that anoth

277 enetic counseling, may become candidates for germ-line mutation testing.

278 breast cancer associated with BRCA1 or BRCA2 germ-line mutations than in sporadic breast cancers (odd

279 examined insulin sensitivity in mice with a germ line mutation that replaces the p53 phosphorylation

280 pel-Lindau (VHL) disease, which is caused by germ line mutations that inactivate the VHL tumor suppre

281 Studies of p53(S18A) mice (with a germ-line mutation that replaces Ser(18) with Ala) have

282 mpact of a high ratio of male:female de novo germ-line mutations that makes this model new and unique

283 re currently offered to women with high-risk germ-line mutations, the in vivo HSPC gene therapy appro

284 blished data shows that for both somatic and germ-line mutations there is an opposite, inverse DR eff

285 c and germ-line mutagenicity, and identified germ line mutations using ZFNs whose somatic mutations r

286 ly) from 150 families with HPC for potential germ-line mutations using conformation-sensitive gel ele

287 In patients with myeloid neoplasm, causative germ line mutations were associated with increased risk

288 Germ-line mutations were found in 14.1% of patients over

289 Germ-line mutations were observed in 4 patients (22%) (a

290 T heterozygotes (APRT+/-) with characterized germ-line mutations were selected in medium containing 1