ライフサイエンスコーパス: BRCA2 gene

1 in PDACs, enabling the identification of the BRCA2 gene.

2 s can occur through genetic reversion in the BRCA2 gene.

3 with protein truncating mutations within the BRCA2 gene.

4 genotyping 50 SNPs spanning 109.4 kb of the BRCA2 gene.

5 rca2-null mice carrying a human BAC with the BRCA2 gene.

6 due to mutations in either the BRCA1 or the BRCA2 gene.

7 ial breast cancers have mutations within the BRCA2 gene.

8 romosome 13 q12.3, in close proximity to the BRCA2 gene.

9 ole in the transcriptional regulation of the BRCA2 gene.

10 ibuted in part to inherited mutations in the BRCA2 gene.

11 by mutations in either the BRCA1 gene or the BRCA2 gene.

12 d to carry novel truncating mutations in the BRCA2 gene.

13 ng women who carry mutations in the BRCA1 or BRCA2 gene.

14 Here we describe the mouse Brca2 gene.

15 o cancer unrelated to mutations within BRCA1/BRCA2 genes.

16 the inheritance of mutations in the BRCA1 or BRCA2 genes.

17 otentially harmful mutations in the BRCA1 or BRCA2 genes.

18 pathogenic variant (PV) in the BRCA1 and/or BRCA2 genes.

19 ting to determine P/LP variants in BRCA1 and BRCA2 genes.

20 er is a result of a mutation in the BRCA1 or BRCA2 genes.

21 ely, in the p53, VHL, K-ras, APC, BRCA1, and BRCA2 genes.

22 ot be explained by mutations in the BRCA1 or BRCA2 genes.

23 ng a 1-bp deletion at nucleotide 6174 of the BRCA2 gene (6174delT).

24 identify mutations anywhere in the BRCA1 and BRCA2 genes (7,461 analyses) or for three specific Ashke

25 Mutations within the high penetrance BRCA1/BRCA2 genes account for approximately 20% of familial br

26 erature review among women with the BRCA1 or BRCA2 gene and mortality rates were determined from Surv

27 -ABL1 and PML-RAR, mutations in BRCA1 and/or BRCA2 genes, and gene expression profiles identifying le

28 Mutations in the BRCA2 gene are associated with sporadic and familial can

29 Carriers of mutations in the BRCA2 gene are at a highly elevated risk of breast and o

30 herited mutations in the recently discovered BRCA2 gene are believed to be responsible for a signific

31 Mutations in the BRCA2 gene are dominantly inherited but cause cancers wh

32 Mutations in the human BRCA2 gene are responsible for about 45% of hereditary e

33 People carrying a mutant BRCA2 gene are susceptible to breast, ovarian, pancreati

34 linically significant mutations of BRCA1 and BRCA2 genes are associated with increased susceptibility

35 Cells carrying mutated BRCA1 or BRCA2 genes are defective in DNA repair by homologous re

36 Mutations in BRCA1 and BRCA2 genes are the leading cause of hereditary breast a

37 ponding increased transcription of XRCC1 and BRCA2 genes, both of which are required for repair of DN

38 The gene is organized similarly to the human BRCA2 gene, but is more compact and is localized to the

39 e second allele upon screening of the entire BRCA2 gene by in vitro synthesized protein assay.

40 Germline mutation of the BRCA2 gene carries a high risk of developing breast canc

41 Inherited mutations in the human BRCA2 gene cause about half of the cases of early-onset

42 eate a single missense mutation in the human BRCA2 gene cloned in a BAC without the use of any select

43 or three specific mutations in the BRCA1 and BRCA2 genes common among Ashkenazi Jews for the first oc

44 Mutations in the BRCA2 gene confer a high risk of breast cancer and are r

45 Inherited mutations of the human BRCA2 gene confer increased risks for developing breast,

46 Germline mutations of the human BRCA2 gene confer susceptibility to breast cancer.

47 Germ-line mutations in the human BRCA2 gene confer susceptibility to breast cancer.

48 Mutations in the BRCA1 and BRCA2 genes confer greater risk of developing breast can

49 Deleterious mutations of the BRCA1 and BRCA2 genes confer susceptibility to breast and ovarian

50 The BRCA1 and BRCA2 genes contain unusually high densities of repetiti

51 Mutant forms of the BRCA2 gene contribute significantly to hereditary breast

52 lines, V-C8 (BRCA2 deficient) and V-C8 with BRCA2 gene correction were used.

53 A networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals w

54 ian cancers, for example those with BRCA1 or BRCA2 gene defects.

55 The chicken BRCA2 gene encodes a protein of 3399 amino acids, which

56 The BRCA2 gene encodes a very large protein thought to play

57 Mutations of the human BRCA1 and BRCA2 genes encoding tumor suppressors have been implica

58 s significantly different for both BRCA1 and BRCA2 gene expression (P < 0.02 and P < 0.02, respective

59 conditions and kinetics of the induction of BRCA2 gene expression may implicate roles for the functi

60 ppears that SLUG is a negative regulator for BRCA2 gene expression.

61 y a germline mutation in either the BRCA1 or BRCA2 gene face a lifetime risk of breast cancer of up t

62 tability associated with brh2 means that the BRCA2 gene family is more widespread than previously tho

63 Moreover, in the ATM, BRCA1 and BRCA2 genes from prostate cancer patients, the distribut

64 Mutations in the BRCA1 and BRCA2 genes give rise to a dramatically increased risk o

65 The BRCA2 gene has recently been identified.

66 The recent cloning of the human BRCA2 gene has revealed that it encodes a large protein

67 Heterozygous carriers of mutations in the BRCA2 gene have a high risk of developing breast and oth

68 Carriers of mutations in the BRCA2 gene have a high risk of developing breast and oth

69 Mutations of the BRCA2 gene have been extensively characterized and are p

70 Cells deficient in the Brca1 and Brca2 genes have reduced capacity to repair DNA double-s

71 who carry deleterious mutations of BRCA1 or BRCA2 genes have up to a 54% lifetime risk of developing

72 Inactivating mutations in the BRCA1 and BRCA2 genes impair DNA double-strand break (DSB) repair

73 a 1-megabase 13q12.3 locus, encompassing the BRCA2 gene, in 80% of 35 CLL cases studied.

74 Loss-of-function mutations in the BRCA1 and BRCA2 genes increase the risk of cancer.

75 s suggest that biallelic inactivation of the BRCA2 gene is a relatively late event in pancreatic tumo

76 The BRCA2 gene is involved in recombinational DNA repair and

77 The BRCA2 gene is mutated in familial breast and ovarian can

78 he embryonic expression pattern of the mouse Brca2 gene is now defined and an interaction identified

79 To date, inheritance of a mutant BRCA1 or BRCA2 gene is the best-established indicator of an incre

80 s, suggesting that altered expression of the BRCA2 gene may contribute to breast tumorigenesis.

81 model OR = 1.46 [1.12, 1.79], p = 0.0036 vs. BRCA2 gene model OR = 0.96 [0.85, 1.07] p = 0.4171).

82 erlying genetic mutation (such as a BRCA1 or BRCA2 gene mutation or other familial breast cancer synd

83 Among women who test positive for a BRCA1 or BRCA2 gene mutation, prophylactic surgery at a young age

84 Patients who carry the BRCA1 and BRCA2 gene mutations have an underlying genetic predispo

85 significant changes in women with BRCA1 and BRCA2 gene mutations when compared with control subjects

86 nhibitors in patients with germline BRCA1 or BRCA2 gene mutations, that this approach could be benefi

87 , and the inactivation of the p53, DPC4, and BRCA2 genes occur late in the neoplastic progression.

88 iated deletion of exons 3 and 4 of the mouse Brca2 gene occurring specifically in mammary epithelial

89 The penetrance of the BRCA2 gene on chromosome 13q12-13 has been estimated in

90 ers using markers spanning the region of the BRCA2 gene on chromosome 13ql2-ql3 suggest that only two

91 Germ line mutations in BRCA2 gene predispose women to early-onset familial brea

92 Mutations in the BRCA1 and BRCA2 genes predispose afflicted individuals to breast,

93 Mutations in the BRCA1 or BRCA2 genes predispose to a wide spectrum of familial ca

94 Germ-line mutations in the BRCA1 and BRCA2 genes predispose women to breast cancer.

95 Here we show that the BRCA2 gene product is a 460-kDa nuclear phosphoprotein,

96 ntify novel proteins that associate with the BRCA2 gene product, we found that a deubiquitinating enz

97 Functional analyses of the BRCA1 and BRCA2 gene products have established their dual particip

98 Recent studies suggest that the BRCA1 and BRCA2 gene products may function in the sensing and/or r

99 ing for inherited mutations in the BRCA1 and BRCA2 genes provides potentially valuable information to

100 alysis of the upstream sequence of the human BRCA2 gene revealed an E2-box-containing silencer at the

101 BRCA2 gene sequencing identified five mutations (5 of 29

102 er suggesting the involvement of SLUG in the BRCA2 gene silencing.

103 Here we present BRCA1 and BRCA2 gene-specific models and a generic model for quant

104 recommend in-person counseling before BRCA1/BRCA2 gene testing, genetic counseling is increasingly o

105 we have cloned and characterized the chicken BRCA2 gene, the first non-mammalian BRCA2 gene to be des

106 atients with cancer with an altered BRCA1 or BRCA2 gene, there is an urgent need to ensure that there

107 chicken BRCA2 gene, the first non-mammalian BRCA2 gene to be described.

108 of carrying a pathogenic variant in BRCA1 or BRCA2 gene, using germline BRCA genetic testing results

109 after they were found to carry the BRCA1 or BRCA2 gene variant.

110 The original localization of the BRCA2 gene was aided by its homozygous deletion in a pan

111 Recently, the human BRCA2 gene was cloned, and several germline mutations we

112 The BRCA2 gene was identified based on its involvement in fa

113 Mutation analysis in the BRCA1 and BRCA2 genes was also undertaken in all families.

114 Testing for germline CDH1, BRCA1, and BRCA2 genes was performed.

115 In an effort to isolate the BRCA2 gene, we have cloned 73 non overlapping cDNAs from

116 R, IGFIIR, BAX, E2F4, MSH3, MSH6, BRCA1, and BRCA2 genes were generally rare.

117 genetic predisposition, the TP53, BRCA1, and BRCA2 genes were not frequently mutated in this cohort o

118 Rare pathogenic variants in the BRCA1 and BRCA2 genes were selected as an exemplar for detailed an

119 riants that have been described in the human BRCA2 gene which are of unknown significance in disease

120 Unlike other mutations in the Brca2 gene, which are lethal early in embryogenesis when

121 The BRCA2 gene, which is located on human chromosome 13, enc

122 For pathogenic variants in the BRCA1 and BRCA2 genes, which are individually very rare, the overa

123 en with a pathogenic variant in the BRCA1 or BRCA2 gene who face a high lifetime risk of breast cance

124 Inherited mutations of the BRCA1 and BRCA2 genes, whose protein products are necessary for th

125 n who carry mutations in either the BRCA1 or BRCA2 gene will also experience reduced incidence of bre

126 lation of the normal and mutant forms of the BRCA2 gene with its natural promoter would greatly facil