Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. 27616075

2017
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR The c.657del5 variant in the NBN gene predisposes to pancreatic cancer. 27150568

2016
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949

2016
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers. 26083025

2015
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627

2015
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Identification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation. 25485873

2014
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk. 23765759

2013
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies. 24113799

2013
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition. 22293976

2012
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients. 19908051

2010
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. 15185344

2004
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR NBS1 is a prostate cancer susceptibility gene. 14973119

2004
dbSNP: rs587776650
rs587776650
NBN
A 0.700 CausalMutation CLINVAR Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. 11093281

2000