|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We screened 235 non-BRCA1/2 Korean patients with high-risk breast cancer for NBS1 mutations.
|
25712764 |
2015 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study therefore does not support the involvement of the genotype at NBS1 rs2735383 in breast cancer susceptibility.
|
27845421 |
2016 |
|
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 |
The survival of women with breast cancer and a NBS1 mutation is similar to that of patients without a NBS1 mutation.
|
24072268 |
2013 |
|
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 |
These data establish that MRE11A, RAD50, and NBN are intermediate-risk breast cancer susceptibility genes.
|
24894818 |
2014 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We performed genetic association studies in a population-based breast cancer case-control study analysing polymorphisms in genes involved in homologous recombination (NBS1, RAD52, RAD51, XRCC2 and XRCC3) and non-homologous end-joining (KU70/80 and LIG4).
|
12023982 |
2002 |
|
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 |
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 |
|
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 |
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 |
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 |
|
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 |
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 |
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 |
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 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that polymorphisms of NBS1 are associated with breast cancer risk.
|
16714331 |
2006 |
|
Malignant neoplasm of breast
|
0.500 |
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 |
|
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 |
|
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 |
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 |
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 |