|
Breast Carcinoma
|
0.200 |
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 |
|
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 |
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 |
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 |
The aim of the study was to analyse the frequency of I171V mutation in NBS1 gene in 270 women with breast cancer, 176 patients with larynx cancer, 81 with second primary tumours of head and neck, 131 with colorectal carcinoma and 600 healthy individuals.
|
18280732 |
2008 |
|
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Overall, our data suggest that the NBS1 657del5 allele may contribute only to a limited fraction of breast cancer cases in Russia.
|
15578693 |
2005 |
|
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 |
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 |
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 |
|
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 |
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 |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M.
|
18701435 |
2008 |
|
Breast Carcinoma
|
0.200 |
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 |
|
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These findings demonstrate conclusively that NBS1 657del5 mutation carriers have a significantly, though moderately increased, age-related risk of breast cancer, and imply that in populations with a high 657del5 carrier frequency this mutation may contribute substantially to the overall incidence of breast cancer, particularly in younger age groups.
|
16770759 |
2006 |
|
Breast Carcinoma
|
0.200 |
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 |
|
Breast Carcinoma
|
0.200 |
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 |
|
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Studies of lymphoblastoid cell lines revealed that NBS1/p95 protein levels were reduced to 70% in cells from a heterozygous breast cancer patient carrying R215W and to 15% in cells from a NBS patient compound heterozygous for 657del5/R215W suggesting that the R215W substitution may be associated with protein instability.
|
17957789 |
2008 |
|
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 |
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 |
These data establish that MRE11A, RAD50, and NBN are intermediate-risk breast cancer susceptibility genes.
|
24894818 |
2014 |
|
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 |
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 |
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 |
In summary, our meta-analysis strongly suggests the NBS1 8360G > C polymorphism is associated with breast cancer.
|
20143155 |
2010 |
|
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 |