|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.
|
28374160 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Acquired CDK6 amplification promotes breast cancer resistance to CDK4/6 inhibitors and loss of ER signaling and dependence.
|
27748766 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.
|
28727877 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
|
28152038 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
|
27616075 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
|
26822949 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
|
26976419 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.
|
26786923 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Multigene testing of moderate-risk genes: be mindful of the missense.
|
26787654 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
The c.657del5 variant in the NBN gene predisposes to pancreatic cancer.
|
27150568 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.
|
25712764 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
|
25677497 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
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 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
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 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
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 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
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 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
|
24763289 |
2014 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
|
24549055 |
2014 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk.
|
23765759 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
An inherited NBN mutation is associated with poor prognosis prostate cancer.
|
23149842 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies.
|
24113799 |
2013 |