Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 GeneticVariation CLINVAR Clinical and genetic characterization of hereditary breast cancer in a Chinese population. 29093764

2017
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA. 28374160

2017
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 GeneticVariation CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419

2016
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. 26534844

2016
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419

2016
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 GeneticVariation CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923

2016
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. 27443514

2016
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 GeneticVariation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354

2015
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354

2015
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 GeneticVariation CLINVAR Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). 25677497

2015
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). 25677497

2015
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 GeneticVariation 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
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 24549055

2014
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 GeneticVariation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies. 24113799

2013
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Impact of heterozygous c.657-661del, p.I171V and p.R215W mutations in NBN on nibrin functions. 22131123

2012
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer. 22864661

2012
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation. 22941933

2012
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition. 22293976

2012
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study. 20444919

2010
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 CausalMutation CLINVAR Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients. 19908051

2010