|
Malignant neoplasm of breast
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
Biomarker
|
disease |
BEFREE |
The N terminus of nibrin contains a forkhead-associated (FHA) domain and a breast cancer C-terminal (BRCT) domain, the functions of which are unclear.
|
12679336 |
2003 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The majority of probands with breast cancer and the NBS1 mutation had a positive family history of breast cancer in their first-degree relatives.
|
12845677 |
2003 |
|
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 |
Overall, our data suggest that the NBS1 657del5 allele may contribute only to a limited fraction of breast cancer cases in Russia.
|
15578693 |
2005 |
|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.
|
16474176 |
2006 |
|
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 |
We hypothesized that polymorphisms of NBS1 are associated with breast cancer risk.
|
16714331 |
2006 |
|
Malignant neoplasm of breast
|
0.500 |
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 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
The purpose of this work is to identify mutations in all 16 exons of the NBS1 gene in the group of the patients with diagnosed breast cancer and the control group of healthy individuals.
|
17899368 |
2008 |
|
Malignant neoplasm of breast
|
0.500 |
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 |
|
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Finally, haplotype-based tests identified significant associations between specific haplotypes in MRE11A and NBS1 genes and breast cancer risk.
|
19714462 |
2010 |