ライフサイエンスコーパス: biallelic inactivation

1 ntly, and this epigenetic mechanism leads to biallelic inactivation.

2 g BAP1 in familial mesotheliomas, indicating biallelic inactivation.

3 ge repair (DDR) genes, of which 28 (42%) had biallelic inactivation.

4 ergo tumor-specific mutation consistent with biallelic inactivation.

5 pressure for, and functional consequences of biallelic inactivation across TSGs.

6 tumorigenic effects associated with somatic biallelic inactivation, although haploinsufficiency may

7 ost significantly mutated CMG is DNAAF1 with biallelic inactivation and loss of DNAAF1 expression sho

8 Additional biallelic inactivation and/or missense p53 mutation in t

9 were found in tumors from five patients, and biallelic inactivation as a result of a mutation and los

10 ith approximately 30% of patients displaying biallelic inactivation by mutations and/or deletions.

11 We demonstrate that selection for biallelic inactivation can be utilized to identify drive

12 loma driver genes and the critical nature of biallelic inactivation events affecting tumor suppressor

13 In many recurrent deletions, however, such biallelic inactivation has not been found.

14 gsLOH was common, indicating a high rate of biallelic inactivation in metastatic breast cancer.

15 he unmethylated form was present, confirming biallelic inactivation in methylated lines.

16 We show that the frequency of TP53 biallelic inactivation increases dramatically in early p

17 the genome-wide identification of genes with biallelic inactivation involving nonsense mutations and

18 5.1% overall), lineage-dependent patterns of biallelic inactivation led to tumors exhibiting mechanis

19 RCs and also confers the "second hit" in the biallelic inactivation mechanism for some proportion of

20 r ACVR2 mutation and expression to assess if biallelic inactivation occurs.

21 ssity for earlier genetic alterations before biallelic inactivation of a recessive tumor susceptibili

22 ising in Arf (+/-) mice consistently exhibit biallelic inactivation of Arf, but, unexpectedly, do not

23 In contrast to biallelic inactivation of autosomal tumor-suppressor gen

24 esothelioma cells from Bap1(+/-) mice showed biallelic inactivation of Bap1, consistent with its prop

25 Biallelic inactivation of BRCA1 or BRCA2 is associated w

26 We investigated the prevalence of biallelic inactivation of BRCA2 in the presumed precurso

27 Although biallelic inactivation of BRG1 could not initiate tumor

28 that a loss of cell viability underlies why biallelic inactivation of BRG1 does not increase tumorig

29 Biallelic inactivation of cancer susceptibility gene BRC

30 Biallelic inactivation of CDKN2A emerged exclusively in

31 known TSGs are not homozygously deleted, and biallelic inactivation of CDKN2A may contribute to tumor

32 Biallelic inactivation of DPC4 has been reported in half

33 tumors arising in a double heterozygote show biallelic inactivation of either BRCA1 or BRCA2, but not

34 ly, TSC is said to occur through a classical biallelic inactivation of either TSC genes (TSC1, hamart

35 ha subtype(4) and characterized by universal biallelic inactivation of ELP1 owing to somatic loss of

36 wo patients with hybrid oncocytic tumors had biallelic inactivation of FLCN in a setting of Birt-Hogg

37 diator complex subunit 12 (MED12) mutations, biallelic inactivation of fumarate hydratase (FH), and c

38 161 deficiency and the primary mechanism for biallelic inactivation of GPR161 in affected MB(SHH) tum

39 We demonstrate that biallelic inactivation of Lkb1 and Pten in the mouse lun

40 Biallelic inactivation of LKB1, a serine/threonine kinas

41 The "secondhit" pathway is responsible for biallelic inactivation of many tumor suppressors, where

42 cy in a subset of canine and feline UCs with biallelic inactivation of MSH2.

43 Biallelic inactivation of PALB2 and MLH1 was observed in

44 lial carcinoma, we generated mice containing biallelic inactivation of Pten in the urogenital epithel

45 In tumor tissue tested with NGS, biallelic inactivation of RB1 was identified in 28 tumor

46 Eleven tumor tissues showed biallelic inactivation of RIZ.

47 Thus, biallelic inactivation of SMAD4 occurs in both the epith

48 One case of apparent biallelic inactivation of Smad4 was found in our study o

49 Biallelic inactivation of SMARCB1, encoding a member of

50 s, each containing multiple individuals with biallelic inactivation of SVBP caused by truncating vari

51 In one of the two tumors, biallelic inactivation of the APC gene was found.

52 Biallelic inactivation of the Apc tumor suppressor gene

53 These results suggest that biallelic inactivation of the BRCA2 gene is a relatively

54 aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit S

55 CC) is an aggressive cancer characterized by biallelic inactivation of the gene encoding the Krebs cy

56 C) is an inherited cancer syndrome linked to biallelic inactivation of the gene encoding the tricarbo

57 When reintroduced in cell lines carrying biallelic inactivation of the gene, A20 induced apoptosi

58 s cause loss of ACVR2 expression, indicating biallelic inactivation of the gene.

59 RTs are characterized by biallelic inactivation of the INI1 tumor suppressor gene

60 the mTORC1 activator genes, Rheb or MTOR, or biallelic inactivation of the mTORC1 repressor genes, De

61 bility that gliomagenesis requires more than biallelic inactivation of the NF1 tumor suppressor gene

62 g may result in the functional equivalent of biallelic inactivation of the NF1 tumor suppressor.

63 Biallelic inactivation of the NF2 gene occurs in the maj

64 is an inherited autosomal disorder caused by biallelic inactivation of the NF2 tumor suppressor gene.

65 n malignancies, but the demonstrated rate of biallelic inactivation of the PTEN gene by mutation or h

66 of the developing retina that initiates with biallelic inactivation of the RB1 gene.

67 defined by germline Ras disease and acquired biallelic inactivation of the respective genes in hemato

68 ma is a pediatric retinal tumor initiated by biallelic inactivation of the retinoblastoma gene (RB1).

69 Specifically, the biallelic inactivation of the SWI/SNF subunit SMARCB1 re

70 In ccRCC the biallelic inactivation of the VHL gene leads to stabiliz

71 for more than 80% of cases, are typified by biallelic inactivation of the von Hippel-Lindau (VHL) tu

72 f kidney cancer and frequently are linked to biallelic inactivation of the von Hippel-Lindau (VHL) tu

73 Biallelic inactivation of the von Hippel-Lindau tumor su

74 Biallelic inactivation of the von Hippel-Lindau tumor su

75 r in sporadic colorectal cancers (CRCs), but biallelic inactivation of this site has not been frequen

76 tic DICER1 variant (p.Asp1709Glu) as well as biallelic inactivation of TP53 (p.Val173Leu, VAF 91%) an

77 Here we model occult preneoplasia by biallelic inactivation of TP53, a common early event in

78 number of copy number aberration changes and biallelic inactivation of tumor suppressor genes was inc

79 es that are much more similar to tumors with biallelic inactivation of VHL.

80 In addition, biallelic inactivations of BRG1 were observed in four ot

81 Monoallelic and biallelic inactivation represent disease stages occurrin

82 This biallelic inactivation resulted in loss of expression of

83 However, the low frequency of biallelic inactivation suggests that either PTEN/MMAC1 i

84 ty, clinical presentation and tumour-matched biallelic inactivation, top-ranked candidates include PR

85 tage, including drivers (DUOX2, EZH2, TP53), biallelic inactivation (TP53), noncoding mutations in bo

86 Overall, evidence of biallelic inactivation was found in 74.2% of patients wi

87 Loss of the WT Nf2 allele, leading to biallelic inactivation, was observed in all nine asbesto

88 Tumorigenesis is typically attributed to biallelic inactivation, yet evidence suggests haploinsuf

89 RCA1/2, respectively, selective pressure for biallelic inactivation, zygosity-dependent phenotype pen