ライフサイエンスコーパス: mutational signature

1 of APOBEC3F with AID resulted in an AID-like mutational signature.

2 ower frequency and a different UV-associated mutational signature.

3 apse in highly expressed genes, with a clear mutational signature.

4 er is another cancer type that exhibits this mutational signature.

5 -repair gene (SMUG1) correlate with a C-to-T mutational-signature.

6 cancers and extracted more than 20 distinct mutational signatures.

7 ce characteristic mutational patterns called mutational signatures.

8 d to explore the origin of cancer-associated mutational signatures.

9 d these are mainly attributable to two known mutational signatures.

10 etic and epigenetic perturbations and unique mutational signatures.

11 This indicated that COSMIC mutational signature 24, previously hypothesized to stem

12 Mutational signature analysis also confirms that extreme

13 tic aberrations, subclone combinatorics, and mutational signature analysis revealed at least two to f

14 Mutational signature analysis reveals that this differen

15 Mutational signature analysis was extended to genome rea

16 tis elegans whole-genome sequencing to model mutational signatures, analyzing 183 worm populations ac

17 ther, these analyses identify an NER-related mutational signature and highlight the related roles of

18 Our data suggest that the 'platinum' mutational signature and inactivation of REV3L may infor

19 These approaches revealed a distinct mutational signature and nine significantly mutated gene

20 minases in generating particular genome-wide mutational signatures and a signature of localized hyper

21 nclusion, we identified risk factor-specific mutational signatures and defined the extensive landscap

22 ations (88%), copy number alterations (80%), mutational signatures, and neoantigens between cfDNA and

23 e from NGS data that well-defined carcinogen mutational signatures are indeed present in tumour genom

24 veal APOBEC3B and 3A as the deaminases whose mutational signatures are most similar to those of breas

25 Mutational signatures are patterns in the occurrence of

26 The mechanisms underlying most of these mutational signatures are unknown.

27 ts of large (>100 kb) tandem duplications, a mutational signature associated with homologous-recombin

28 BRCA2, BRCA1 or RPA, resulted in a distinct mutational signature associated with significant increas

29 c mutational signatures; however, a specific mutational signature associated with somatic alterations

30 We reveal distinct mutational signatures associated with classical NHEJ-med

31 even in the presence of UNG, and identified mutational signatures associated with combined UNG and S

32 ng can recapture and mechanistically explain mutational signatures associated with human disease.

33 highlights the genetic evolution and non-UVB mutational signatures associated with melanoma developme

34 cing analysis of 243 liver tumors identified mutational signatures associated with specific risk fact

35 e that antibodies to m6A can induce specific mutational signatures at m6A residues after ultraviolet

36 ound that these antibodies similarly induced mutational signatures at N(6),2'-O-dimethyladenosine (m6

37 new method for the statistical estimation of mutational signatures based on an empirical Bayesian tre

38 At least half of these mutational signatures can be readily assigned to known h

39 Mutational signatures can be used as a physiological rea

40 Mutational signatures can be used to understand cancer o

41 identification of MMR defects by providing a mutational signature characteristic of hPMS2 defect.

42 omatic ERCC2 mutations and the activity of a mutational signature characterized by a broad spectrum o

43 ted SCCHN genomes uniquely exhibited a novel mutational signature characterized by C:G to A:T transve

44 n the pooled analysis IR was associated with mutational signatures common to both species.

45 post-chemotherapy samples from 10 cases, the mutational signatures, copy number, and SNV mutational p

46 We identify a mutational signature defined by a high prevalence of A>C

47 Unsupervised analysis of mutational signatures demonstrates the activities of can

48 The stability of NMF-generated mutational signatures depends upon the numbers of varian

49 h mutational process leaves a characteristic mutational signature determined by the mechanisms of DNA

50 We identify six mutational signatures (E1-E6), and Signature E4 is uniqu

51 thus identifying 2-nt deletions as a unique mutational signature for TAM.

52 ce pancreatic cancer and exploit CRISPR/Cas9 mutational signatures for phylogenetic tracking of metas

53 polymerase alleles may generate distinctive mutational signatures for probing functions in vivo.

54 AFB1 mutational signatures from all four experimental systems

55 The extraction of mutational signatures from high-throughput data still re

56 n in tumors and can result in characteristic mutational signatures; however, a specific mutational si

57 In addition to these genome-wide mutational signatures, hypermutation localized to small

58 The order of mutational signatures identified previous treatment and

59 18) histological subtypes and identify three mutational signatures, impacting TpT, CpG and TpCp[A/T]

60 tes large-scale, cross-dataset estimation of mutational signatures, implements existing methods for p

61 Our results reveal a characteristic mutational signature in Apc that is attributable to Mlh1

62 n the spontaneous mutation rate and that the mutational signature in DeltarecD2 cells is not consiste

63 tory of individual cells, we uncover a novel mutational signature in healthy aging endocrine cells.

64 We identified the prevalence of this hybrid mutational signature in many other types of human cancer

65 The TP53 mutational signature in patients with UUC, dominated by

66 e subsequently identify and validate a novel mutational signature in post-treatment tumors consistent

67 clude that N-OH-AABP leaves a characteristic mutational signature in the cII transgene, which is cons

68 urothelium, where they give rise to a unique mutational signature in the TP53 tumor-suppressor gene.

69 at acral skin is sun-protected, the dominant mutational signature in these samples is compatible with

70 A746 allele, as Pol zeta produces a distinct mutational signature in this assay.

71 position results and applied them to analyze mutational signatures in breast cancer genomes.

72 Mutational signatures in cancer genomes have implicated

73 the high-throughput discovery and tracing of mutational signatures in human cells, precancerous lesio

74 ristic sequence preferences that can produce mutational signatures in targets such as retroviral and

75 ational method that analyzes the patterns of mutational signatures in tumors and predicts the likelih

76 responders to platinum therapy exhibit this mutational signature including a sample that lacked any

77 er histological grade, and observed multiple mutational signatures, including one present in about te

78 tion (NMF) into discrete trinucleotide-based mutational signatures indicative of specific cancer-caus

79 Mutational signatures inferring defects in DNA repair we

80 An APOBEC mutational signature is seen in 3.8% of cases and is lin

81 d, ncdDetect, which includes sample-specific mutational signatures, long-range mutation rate variatio

82 to carcinogens recapitulate key features of mutational signatures observed in human cancers.

83 al resolution of ccRCC evolution and refines mutational signatures occurring during tumor development

84 teins into the acceptor scaffold of AID, the mutational signature of AID changes toward that of the d

85 Such enhancements in the mutational signature of B(a)PDE were most pronounced wit

86 ntenance genes (BRCA1, BRCA2 or PALB2) and a mutational signature of DNA damage repair deficiency.

87 This unique mutational signature of N-OH-AABP in the cII gene was, h

88 cell fate and to detect and characterize the mutational signature of rare field transformations in hu

89 e present the first whole-genome data on the mutational signatures of AFB1 exposure from a total of >

90 ation of the in vivo bypass efficiencies and mutational signatures of the DNA lesions.

91 and applied mathematical methods to extract mutational signatures of the underlying processes.

92 ccumulated in a cell, with each imprinting a mutational signature on the cell's genome.

93 ented by PUVA-II treatment, leaving a unique mutational signature on the cII transgene.

94 omponents and leaving its own characteristic mutational signature on the genome.

95 h process leaves a characteristic imprint--a mutational signature--on the cancer genome, which is def

96 ression model to identify six distinguishing mutational signatures predictive of BRCA1/BRCA2 deficien

97 sertion/deletion (indel) and 6 rearrangement mutational signatures present in breast tissue, exhibit

98 mly across the genome and were enriched in a mutational signature previously observed in cancers and

99 Here, we use a distinct mutational signature produced by Polzeta in a frameshift

100 Cancer mutational signatures reflect exogenous or endogenous pr

101 The dominant mutational signature reflects DNA damage due to ultravio

102 ng "chromoanasynthesis," a replication-based mutational signature seen in constitutional genomic diso

103 The APOBEC mutational signature seen in myeloma is, therefore, asso

104 Unsupervised clustering of mutational signatures separated the patients into two ca

105 Two mutational signatures show clock-like properties.

106 However, mutational signatures showed three distinct molecular su

107 hromosomal amplifications and deletions, and mutational signatures suggesting defective DNA repair.

108 PDGFRA genes in GIST tumors may similarly be mutational signatures that are causally linked to specif

109 us, ionizing radiation generates distinctive mutational signatures that explain its carcinogenic pote

110 608 liver cancer cases and identified unique mutational signatures that predominantly contribute to A

111 mutations, novel noncoding alterations, and mutational signatures that were shared by common and rar

112 Here we describe the mutational signatures they harbour, including a deficien

113 ic tumors could also have contributed to the mutational signature through accumulation of unrepaired

114 Integrating all of the classes of mutational signatures thus reveals a larger proportion o

115 In fact, many sequence-specific mutational signatures uncovered in sequenced cancer geno

116 Recently, a mutational signature was associated with failure of doub

117 Furthermore, no UV light-induced mutational signature was identified.

118 Independent of an evolving mutational signature, we show that the growth of gliobla

119 Using mutational signatures, we predicted that majority of the

120 Unique low-level mutational signatures were identified for each colon can

121 ion/deletion and rearrangement patterns, or 'mutational signatures', were associated with BRCA1/BRCA2

122 reased mutation burdens of multiple distinct mutational signatures, which contribute to different ext

123 hat are spatially clustered to have a unique mutational signature with no significant differences bet

124 We integrated the experimental mutational signatures with data from newly sequenced HCC

125 ructSigs, which allows the identification of mutational signatures within a single tumor sample.