Condition: Nijmegen Breakage Syndrome


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.

rs767094704 in NBN;OSGIN2 gene and Nijmegen Breakage Syndrome PMID 15758953 2005 Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage.

rs751570713 in OSGIN2;NBN gene and Nijmegen Breakage Syndrome 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.