Gene: NBN

Alternate names for this Gene: AT-V1|AT-V2|ATV|NBS|NBS1|P95

Gene Summary: Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation.

Gene is located in Chromosome: 8

Location in Chromosome : 8q21.3

Description of this Gene: nibrin

Type of Gene: protein-coding

rs767454740 in NBN gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

rs773119929 in NBN gene and Malignant neoplasm of breast PMID 14684699 2003 Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.

rs1060503467 in NBN gene and Neoplastic Syndromes, Hereditary PMID 27616075 2017 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

PMID 9590180 1998 Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

PMID 19105185 2009 Fertility defects revealing germline biallelic nonsense NBN mutations.

PMID 27748766 2017 Acquired CDK6 amplification promotes breast cancer resistance to CDK4/6 inhibitors and loss of ER signaling and dependence.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 26787654 2016 Multigene testing of moderate-risk genes: be mindful of the missense.

PMID 26083025 2015 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.

PMID 27150568 2016 The c.657del5 variant in the NBN gene predisposes to pancreatic cancer.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 22293976 2012 Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

PMID 25485873 2014 Identification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation.

PMID 24113799 2013 Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 19908051 2010 Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

PMID 23765759 2013 Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk.

PMID 15185344 2004 Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland.

PMID 11093281 2000 Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.

PMID 14973119 2004 NBS1 is a prostate cancer susceptibility gene.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 28374160 2017 A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.

PMID 18593981 2008 Mutations in the Nijmegen breakage syndrome gene in medulloblastomas.

PMID 12621246 2003 Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.

PMID 25712764 2015 Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 23149842 2013 An inherited NBN mutation is associated with poor prognosis prostate cancer.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 24072268 2013 Clinical characteristics of breast cancer in patients with an NBS1 mutation.

PMID 28727877 2017 Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

PMID 22864661 2012 Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer.

PMID 25677497 2015 Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

PMID 24894818 2014 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.

rs1057517075 in NBN gene and Nijmegen Breakage Syndrome PMID 16415040 2006 Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

PMID 9590180 1998 Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

PMID 19105185 2009 Fertility defects revealing germline biallelic nonsense NBN mutations.

PMID 27443514 2016 Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.

PMID 15451479 2004 The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.

PMID 15593232 2005 Nijmegen breakage syndrome diagnosed as Fanconi anaemia.

PMID 17429352 2007 The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex.

PMID 21035407 2010 Mre11-Rad50-Nbs1 conformations and the control of sensing, signaling, and effector responses at DNA double-strand breaks.

PMID 15758953 2005 Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage.

PMID 15964794 2005 ATM activation and its recruitment to damaged DNA require binding to the C terminus of Nbs1.

PMID 15048089 2004 Distinct functional domains of Nbs1 modulate the timing and magnitude of ATM activation after low doses of ionizing radiation.

PMID 24894818 2014 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.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 16544999 2006 Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers.

PMID 22293976 2012 Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

PMID 24113799 2013 Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies.

PMID 14973119 2004 NBS1 is a prostate cancer susceptibility gene.

PMID 22941933 2012 Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation.

PMID 15185344 2004 Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland.

PMID 19635536 2009 Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.

PMID 11279524 2001 An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele.

PMID 18606567 2008 The importance of making ends meet: mutations in genes and altered expression of proteins of the MRN complex and cancer.

PMID 22131123 2012 Impact of heterozygous c.657-661del, p.I171V and p.R215W mutations in NBN on nibrin functions.

PMID 20444919 2010 High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study.

PMID 11953735 2002 Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.

PMID 19908051 2010 Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

PMID 16033915 2006 Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

PMID 26534844 2016 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.

PMID 15474156 2004 Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site.

PMID 28374160 2017 A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.

PMID 12621246 2003 Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 10799436 2000 Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 22864661 2012 Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer.

PMID 29093764 2017 Clinical and genetic characterization of hereditary breast cancer in a Chinese population.

PMID 25677497 2015 Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).

PMID 2625251 1989 Intervention in potential leukemic cell migration pathway affects leukemogenesis.

PMID 3802554 1986 A new chromosome instability disorder.

rs1554563822 in NBN gene and Premature Menopause PMID 29706645 2018 "Identification of variants in pleiotropic genes causing ""isolated"" premature ovarian insufficiency: implications for medical practice."