Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |
Nijmegen Breakage Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
|
25677497 |
2015 |
Nijmegen Breakage Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
|
25677497 |
2015 |
Nijmegen Breakage Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
|
24763289 |
2014 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
|
24894818 |
2014 |
Nijmegen Breakage Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
|
24549055 |
2014 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
|
24763289 |
2014 |
Nijmegen Breakage Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The prognostic impact of high Nijmegen breakage syndrome (NBS1) gene expression in ERG-negative prostate cancers lacking PTEN deletion is driven by KPNA2 expression.
|
24510842 |
2014 |
Nijmegen Breakage Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Since some of the newly identified interactors of the p26 and p70 fragments have not been found to interact with the full-length NBN, these interactions may somehow contribute to the key biological phenomena underpinning NBS.
|
25485873 |
2014 |
Nijmegen Breakage Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
To verify whether truncated nibrin (p70), causing Nijmegen Breakage Syndrome (NBS), is involved in DDR and cell fate upon DNA damage, we used two (S4 and S3R) spontaneously immortalized T cell lines from NBS patients, with the founding mutation and a control cell line (L5).
|
25119968 |
2014 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line.
|
24928521 |
2014 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nijmegen breakage syndrome 1 (NBS1), a vital DNA repair protein in the homologous recombination repair pathway and a signal modifier in the intra-S phase checkpoint, plays a critical role in cellular response to DNA damages and the maintenance of genomic stability.
|
23381647 |
2013 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Regulation of the Nijmegen breakage syndrome 1 gene NBS1 by c-myc, p53 and coactivators mediates estrogen protection from DNA damage in breast cancer cells.
|
23291854 |
2013 |
Nijmegen Breakage Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The results show that p70-nibrin is degraded by the proteasome with varying efficiency in cell lines from different NBS patients leading to lower or higher steady state levels of this partially active protein fragment.
|
23458873 |
2013 |
Nijmegen Breakage Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
CtIP plays an important role in homologous recombination (HR)-mediated DNA double-stranded break (DSB) repair and interacts with Nbs1 and BRCA1, which are linked to Nijmegen breakage syndrome (NBS) and familial breast cancer, respectively.
|
23468639 |
2013 |
Nijmegen Breakage Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies.
|
24113799 |
2013 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the functional consequences of the identified NBS1 mutations in Mre11-binding domain showed loss of nuclear localization of Nbs1 partner Mre11, one of the hallmarks for Nbs1 deficiency, in one HCC and two ICCs with NBS1 mutations.
|
24349281 |
2013 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Many studies were published to evaluate the association between Nijmegen breakage syndrome 1 (NBS1) 657del5 polymorphism and breast cancer risk, but the results remained inconsistent.
|
23765759 |
2013 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with an immunodeficiency in the course of Nijmegen breakage syndrome (NBS) that is caused by mutations in the NBN/NBS1 gene are prone to recurrent infections and malignancies, due to a defective DNA double-strand breaks repair mechanism.
|
22851427 |
2012 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Nijmegen breakage syndrome (NBS) is a genetic disorder caused by mutations in NBN gene and characterized by chromosomal instability and hypersensitivity to ionizing radiations (IR).
|
22941933 |
2012 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nibrin (NBN), located on chromosome 8q21 is a gene involved in DNA double-strand break repair that has been implicated in the rare autosomal recessive chromosomal instability syndrome known as Nijmegen Breakage Syndrome (NBS).
|
22864661 |
2012 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nijmegen Breakage Syndrome (NBS), an autosomal recessive genetic instability syndrome, is caused by hypomorphic mutation of the NBN gene, which codes for the protein nibrin.
|
22396666 |
2012 |
Nijmegen Breakage Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Impact of heterozygous c.657-661del, p.I171V and p.R215W mutations in NBN on nibrin functions.
|
22131123 |
2012 |
Nijmegen Breakage Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer.
|
22864661 |
2012 |