Breast Carcinoma
|
0.200 |
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 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the interaction of the 657del5 and E185Q founder alleles of NBN on breast cancer risk in Poland, 4964 women with breast cancer and 6152 controls were genotyped for these two recurrent variants of NBN (657del5 truncating variant and E185Q missense variant).
|
31410679 |
2019 |
Breast Carcinoma
|
0.200 |
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 |
Breast Carcinoma
|
0.200 |
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 |
Breast Carcinoma
|
0.200 |
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 |
Breast Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Over the past 20 years, high-penetrance pathogenic mutations in genes BRCA1, BRCA2, TP53, PTEN, STK11 and CDH1 and moderate-penetrance mutations in genes CHEK2, ATM, BRIP1, PALB2, RAD51C, RAD50 and NBN have been identified for breast cancer.
|
28419251 |
2017 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Of the 1007 probands in the study, 903 probands had no founder mutations in BRCA1 or BRCA2; of these probands, 7 (0.8%) carried another pathogenic mutation in BRCA1 or BRCA2, and 31 (3.4%) carried a pathogenic mutation in another breast cancer gene (29 in CHEK2, and 1 each in BRIP1 and NBN).
|
28727877 |
2017 |
Breast Carcinoma
|
0.200 |
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 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study therefore does not support the involvement of the genotype at NBS1 rs2735383 in breast cancer susceptibility.
|
27845421 |
2016 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
NBS1 rs2735383, RAD51 rs963917 and rs963918 were associated with BC risk after stratification according to reproductive factors.
|
25566853 |
2015 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We screened 235 non-BRCA1/2 Korean patients with high-risk breast cancer for NBS1 mutations.
|
25712764 |
2015 |
Breast Carcinoma
|
0.200 |
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 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We aimed to investigate its functional impact in breast cancer cells from a carrier of this NBN mutation.
|
24928521 |
2014 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These data establish that MRE11A, RAD50, and NBN are intermediate-risk breast cancer susceptibility genes.
|
24894818 |
2014 |
Breast Carcinoma
|
0.200 |
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 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Thus, our meta-analysis suggests that there was a significant association between NBS1 657del5 polymorphisms and breast cancer risk, and NBS1 657del5 polymorphism results in an increased risk of breast cancer.
|
23765759 |
2013 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
NBS1 polymorphisms have been associated with increased risk of breast cancer.
|
23291854 |
2013 |
Breast Carcinoma
|
0.200 |
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 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The survival of women with breast cancer and a NBS1 mutation is similar to that of patients without a NBS1 mutation.
|
24072268 |
2013 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The N-terminus of nibrin (NBN) contains a tandem breast cancer 1 (BRCA1) carboxy-terminal (BRCT) domain that represents one of the major mediators of phosphorylation-dependent protein-protein interactions in processes related to cell cycle checkpoint and DNA repair functions.
|
22941933 |
2012 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We conducted a mutational analysis of RAD50 and NBS1 in genomic DNA from 384 Chinese women with early-onset breast cancer and/or affected relatives.
|
21811815 |
2012 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The present meta-analysis suggests that the 657del5 gene mutation in the NBS1 gene plays a role in breast cancer risk, while the I171V mutation does not exert a significant influence.
|
23317186 |
2012 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Finally, haplotype-based tests identified significant associations between specific haplotypes in MRE11A and NBS1 genes and breast cancer risk.
|
19714462 |
2010 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In summary, our meta-analysis strongly suggests the NBS1 8360G > C polymorphism is associated with breast cancer.
|
20143155 |
2010 |
Breast Carcinoma
|
0.200 |
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 |