NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Here, we summarized the recent research findings of the role of MRE11-RAD50-NBS1 complex in tumorigenesis, cancer treatment and discussed the potential approaches of targeting this complex to treat cancer. 31767017 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE To establish the contribution of four founder alleles of NBN to prostate cancer risk and cancer survival. 30590007 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE The monoallelic carriers of NBN gene are also reported to be at increased risk of developing various types of malignancy. 27844240 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Our study demonstrates the utility of NBS-iPSCs as a screening platform for anti-oxidants capable of suppressing DNA damage and a cellular model for studying NBN de-regulation in cancer and microcephaly. 28790359 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Given the family and personal history of our patient, in connection with previous reports of NBN pathogenic variants predisposition to cancer, this variant is predicted to be pathogenic and clinically significant. 28374160 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Expression of an internally deleted NBN protein, p80-nibrin, has been previously shown to be associated with a milder cellular phenotype and absence of cancer in a 62-year-old NBS patient. 26265251 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE The ATM protein level was positively correlated with the levels of six proteins of the DSB repair pathway: H2AX (P<0.0000001), XRCC5 (P<0.0000001), NBN (P<0.0000001), Mre11 (P=0.0000029), Rad50 (P=0.0064), and TP53BP1 (P=0.026), but not with proteins involved in other pathways that are altered in cancer. 25742469 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE These results provide a new function of NBS1 in stabilizing HIF-1α under IR, which leads to enhanced cancer cell migration and invasion. 25959252 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE In summary, these findings indicate that genetic variants at NBN gene may contribute to gastric cancer susceptibility and may further advance our understanding of NBN gene in cancer development. 26402912 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Single nucleotide polymorphisms (SNPs) in NBS1 gene were commonly tested that associated with the susceptibility to multiple cancers, but the results remained controversial. 26186548 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Although single nucleotide polymorphisms (SNPs) of NBS1 have been associated with susceptibility to lung and upper aerodigestive tract (UADT) cancers, their relations to cancer survival and measures of effect are largely unknown. 24166361 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE NBS1 plays pivotal roles in maintaining genomic stability and cancer development. 25771871 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE In conclusion, current evidence did not suggest that the NBS1 Glu185Gln polymorphism was associated with overall cancer risk, but this polymorphism might contribute to the risk for some specific cancer sites due to potential different mechanisms. 23979977 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies. 24113799 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE The NBS1 Glu185Gln (NBS1 E185Q, NBS1 8360G>C, rs1805794) polymorphism has been indicated to be involved in the development of cancer, but results of previous individual studies on the association between NBS1 Glu185Gln polymorphism and breast cancer risk remain controversial and inconclusive. 23381647 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group 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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE However, it is still possible that heterozygous NBN mutations may contribute to cancer development. 22131123 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Individuals who are heterozygous for NBN mutations are clinically asymptomatic, but may display an elevated risk for certain cancers including, but not limited to, ovarian and prostate cancer as well as various lymphoid malignancies. 22864661 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE The genetic variations in NBS1 gene have been reported to be associated with cancer risk. 22114071 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE We found somatic frameshit mutations of the KNTC1 (6.7% GC, 12.1% CRC), ZC3H13 (3.3% GC, 15.2% CRC), CENPH (6.7% GC), TOPBP1 (3.0% CRC), NDCO80 (3.0% CRC), RIF1 (6.7% GC), and NBS1 (3.3% GC, 3.0% CRC) genes in the cancers with MSI-H. Mutations were detected in MSI-H, but not in MSI-L or MSS samples. 21388066 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE At least 4 germline NBN mutations have been found in several malignancies in adults. 21436738 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Mutations within the BRCT domains of BRCA1, NBN, and MCPH1 are responsible for cancer susceptibility, both at the homozygous and heterozygous status. 21698754 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE These results suggest that heat sensitisation might result from NBS1-siRNA mediated suppression of heat-induced DSB repair, indicating that NBS1-siRNA could potentially function as a heat sensitiser for cancer patients. 21501031 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Immunodeficiency and lymphoid malignancy are hallmarks of the human disease Nijmegen breakage syndrome (NBS; OMIM 251260), which is caused by NBS1 mutations. 20921278 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE We examined the associations between NBS1 polymorphisms and haplotypes and newly incident smoking-related cancers in three case-control studies (Los Angeles: 611 lung and 601 upper aero-digestive tract (UADT) cancer cases and 1040 controls; Memorial Sloan-Kettering Cancer Center: 227 bladder cancer cases and 211 controls and Taixing, China: 218 esophagus, 206 stomach, 204 liver cancer cases and 415 controls). rs1061302 was associated with cancers of the lung [adjusted odds ratio (OR(adj)) = 1.6, 95% confidence interval (CI): 1.2, 2.4], larynx (OR(adj) = 0.56, 95% CI: 0.32, 0.97) and liver (OR(adj) = 1.7, 95% CI: 1.0, 2.9). 20478923 2010