|
Malignant neoplasm of breast
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
17 double heterozygous (DH) breast cancer (BC) patients were identified upon the analysis of 5,391 affected women for recurrent Slavic mutations in BRCA1, CHEK2, NBN/NBS1, ATM, and BLM genes.
|
24800916 |
2014 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
NBS1 gene, which product participates in DNA repair, has been postulated to be a susceptibility factor for a number of types of cancer, including breast cancer.
|
17695489 |
2007 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
NBS1 polymorphisms have been associated with increased risk of breast cancer.
|
23291854 |
2013 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
NBS1 rs2735383, RAD51 rs963917 and rs963918 were associated with BC risk after stratification according to reproductive factors.
|
25566853 |
2015 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
NBN is a protein coding gene (Breast Cancer); Nibrin is used to fix and rebuild the body from damages caused because of strand breaks (both singular and double) associated with protein nibrin.
|
31278556 |
2019 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the NBS1 gene, I171V, has recently been associated with a ninefold increased risk of breast cancer in Polish patients.
|
18049891 |
2008 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene.
|
19383352 |
2008 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
Additional genes involved in DNA double-strand break repair have more recently been associated with breast cancer risk: heterozygosity for deleterious mutations in components of the Rad50-Mre11-Nbs1 complex seems to predispose to breast cancer.
|
19190165 |
2009 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Additionally, we summarized breast cancer risk associated with the following genetic factors: breast cancer susceptibility high-penetrance genes (BRCA1, BRCA2, p53, PTEN, ATM, NBS1 or LKB1) and low-penetrance genes such as cytochrome P450 genes (CYP1A1, CYP2D6, CYP19), glutathione S-transferase family (GSTM1, GSTP1), alcohol and one-carbon metabolism genes (ADH1C and MTHFR), DNA repair genes (XRCC1, XRCC3, ERCC4/XPF) and genes encoding cell signaling molecules (PR, ER, TNFalpha or HSP70).
|
15784178 |
2005 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cases of double heterozygosis have been described with the presence of pathogenic variants in BRCA1, BRCA2, PALB2, CHEK2, BLM or NBN (Nomizu et al. in Breast Cancer 22(5):557-61, 2015; Heidemann et al. in Breast Cancer Res Treat 134(3):1229-1239, 2012; Zuradelli et al. in Breast Cancer Res Treat 124(1):251-258, 2010; Sokolenko et al. in Breast Cancer Res Treat 145(2):553-562, 2014).
|
31292799 |
2019 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
Conversely, variants in the BRIP1 and RAD51C ovarian cancer risk genes; the MRE11A, RAD50, and NBN MRN complex genes; the MLH1 and PMS2 mismatch repair genes; and NF1 were not associated with increased risks of breast cancer.
|
28418444 |
2017 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Finally, haplotype-based tests identified significant associations between specific haplotypes in MRE11A and NBS1 genes and breast cancer risk.
|
19714462 |
2010 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), no remarkable difference for genotype distributions and allele frequencies was observed between BC group and control group in the study.
|
16002061 |
2005 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Four haplotypes within two genes (NBS1 and BRIP1) involved in the monoubiquitinated FANCD2-DNA damage-repair pathway are significantly associated with increased sporadic breast cancer risk, while one haplotype within NBS1 is correlated with an increased risk of familial or early-onset breast cancer, indicating that specific haplotypes may be distinct predictors of breast cancer.
|
23357080 |
2013 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
Further, our analyses of real data indicate NBS1 may play a role in the genetic etiology of heritable breast cancer.
|
16620382 |
2006 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, subgroup analyses by ethnicity and source of controls did not identify any appreciable relationship of the NBS1 Glu185Gln polymorphism with breast cancer susceptibility in any populations.
|
23381647 |
2013 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His.
|
16214912 |
2005 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Germline DNA from 1054 BRCA-mutation-negative Hispanic women with hereditary BC (BC diagnosed at age <51 years, bilateral BC, breast and ovarian cancer, or BC diagnosed at ages 51-70 years with ≥2 first-degree or second-degree relatives who had BC diagnosed at age <70 years), 312 local controls, and 887 multiethnic cohort controls was sequenced and analyzed for 12 known and suspected, high-penetrance and moderate-penetrance cancer susceptibility genes (ataxia telangiectasia mutated [ATM], breast cancer 1 interacting protein C-terminal helicase 1 [BRIP1], cadherin 1 [CDH1], checkpoint kinase 2 [CHEK2], nibrin [NBN], neurofibromatosis type 1 [NF1], partner and localizer of BRCA2 [PALB2], phosphatase and tensin homolog [PTEN], RAD51 paralog 3 [RAD51C], RAD51D, serine/threonine kinase 11 [STK11], and TP53).
|
31206626 |
2019 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, our report is the first to describe a heterozygous c.698_701delAACA NBN variant in a patient with breast cancer.
|
28374160 |
2017 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In a candidate gene study aiming at identifying genetic determinants of breast cancer susceptibility, we undertook the full sequencing of the NBN gene in our cohort of 97 high-risk non-BRCA1 and -BRCA2 breast cancer families, along with 74 healthy unrelated controls, also from the French Canadian population.
|
19523210 |
2009 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
In conclusion, the number of persistent radiation-induced NBS1 foci is associated with chromosomal instability and risk of sporadic breast cancer and hence might be used to select individuals for whom a detailed examination is necessary because of their increased susceptibility to breast cancer, although refinement of the techniques for technical simplicity and accuracy will be required for clinical use.
|
17007554 |
2006 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In Poland founder alleles of the BRCA1, CHEK2 and NBS1 genes have been associated with an increased risk of breast cancer, but the relative contribution of each of these alleles to the overall breast cancer burden has not yet been determined.
|
15980987 |
2005 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In summary, our meta-analysis strongly suggests the NBS1 8360G > C polymorphism is associated with breast cancer.
|
20143155 |
2010 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.
|
14684699 |
2003 |