|
rs662
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Q192R polymorphism plays a role in CLL predisposition and the formation of specific chromosomal aberrations.
|
31177124 |
2019 |
|
rs983889
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Replication 1 supported the association of rs1383997 (8q13.3) and rs2824215 (21q21.1) in CAtot and rs983889 (5p15.1) in CTA analysis.
|
30368896 |
2019 |
|
rs1024708183
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Chromosome analysis shows abundant chromosome aberrations, while whole exome sequencing (WES) reveals a typical NRAS mutation (Q61R).
|
29653142 |
2018 |
|
rs1057519695
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Chromosome analysis shows abundant chromosome aberrations, while whole exome sequencing (WES) reveals a typical NRAS mutation (Q61R).
|
29653142 |
2018 |
|
rs1057519834
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Chromosome analysis shows abundant chromosome aberrations, while whole exome sequencing (WES) reveals a typical NRAS mutation (Q61R).
|
29653142 |
2018 |
|
rs11554290
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Chromosome analysis shows abundant chromosome aberrations, while whole exome sequencing (WES) reveals a typical NRAS mutation (Q61R).
|
29653142 |
2018 |
|
rs2232365
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of note, the synergic effects of the genotypes and chromosomal abnormality all tallied with the sub-multiplication model (OR<sub>chromosome</sub> × OR<sub>SNP</sub> > OR<sub>chromosome+SNP</sub>), while rs2232365 GG and chromosomal aberration impacted the RSA risk in a super-multiplicative way that OR<sub>chromosome</sub> × OR<sub>SNP</sub> < OR<sub>chromosome+SNP</sub>.
|
29476189 |
2018 |
|
rs9344
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, we observed opposite associations between the CCND1 splice site polymorphism rs9344 G870A and the frequency of CAs compared to their association with translocation t(11,14).
|
30389156 |
2018 |
|
rs1057520007
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We infer that U2AF1 S34 mutations characterize a distinct subgroup of MDS: younger age of onset and differential associations with particular cytogenetic aberrations depending on specific mutations [S34Y to +8; S34F to +8 and del(20q)].
|
28938223 |
2017 |
|
rs1131691041
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We infer that U2AF1 S34 mutations characterize a distinct subgroup of MDS: younger age of onset and differential associations with particular cytogenetic aberrations depending on specific mutations [S34Y to +8; S34F to +8 and del(20q)].
|
28938223 |
2017 |
|
rs371769427
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We infer that U2AF1 S34 mutations characterize a distinct subgroup of MDS: younger age of onset and differential associations with particular cytogenetic aberrations depending on specific mutations [S34Y to +8; S34F to +8 and del(20q)].
|
28938223 |
2017 |
|
rs1372047743
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutagenic effects of phospho-Ku70 are documented by a defective S/G2 checkpoint, accelerated disappearance of γ-H2AX foci and kinetics of DNA repair resulting in an increased level of genotoxic stress-induced chromosomal aberrations.
|
26337656 |
2015 |
|
rs150547487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The study has revealed that the global minor allele, SLX4(Y546C), is defective in this interaction and cannot complement Fancp knockout mouse cells in mitomycin C-induced cytotoxicity or chromosomal aberrations.
|
26453996 |
2015 |
|
rs25489
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cells expressing R280H showed significantly increased levels of chromosomal aberrations and accumulate double strand breaks in the G1 cell cycle phase.
|
26011397 |
2015 |
|
rs61748181
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A279T expression significantly increased chromosomal aberrations in mouse embryonic fibroblasts (MEFs) following Zeocin™ exposure, as well as Li Fraumeni fibroblasts in the absence of pharmacologically-induced DNA damage.
|
24983628 |
2014 |
|
rs61754966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In earlier work, we had identified a remarkable number of structural chromosomal aberrations in a patient with pediatric aplastic anemia with a homozygous polymorphic variant of NBS1-I171V; however, it was unclear whether this variant affected DSB repair activity or chromosomal instability.
|
24830725 |
2014 |
|
rs3087468
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We demonstrate that expression of the D239Y variant in cells also expressing wild-type NTH1 leads to genomic instability and cellular transformation as assessed by anchorage-independent growth, focus formation, invasion, and chromosomal aberrations.
|
23940330 |
2013 |
|
rs1052133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study is focused on the extent of any such chromosomal aberrations with respect to chromium levels in the blood of welders as well as on the tentative modulating role of polymorphisms in DNA repair genes XPD Lys751Gln, XPG Asn114His, XPC Lys939Gln, hOGG1 Ser326Cys and XRCC1 Arg399Gln on chromosomal damage.
|
21858514 |
2012 |
|
rs113488022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, in oncogene-positive cases (BRAF(V600E) and RET/PTC1), tumors with CNA/UPD were less frequent (5/15, 33%), whereas tumors with CNA/UPD were more frequent in oncogene-negative cases (7/10, 70%), suggesting that chromosomal aberrations may play a role in the development of PTC, especially in oncogene-negative tumors.
|
22558328 |
2012 |
|
rs121913377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, in oncogene-positive cases (BRAF(V600E) and RET/PTC1), tumors with CNA/UPD were less frequent (5/15, 33%), whereas tumors with CNA/UPD were more frequent in oncogene-negative cases (7/10, 70%), suggesting that chromosomal aberrations may play a role in the development of PTC, especially in oncogene-negative tumors.
|
22558328 |
2012 |
|
rs281864719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Targeted ALK(F1174L) and MYCN coexpression revealed a strong synergism in inducing neuroblastoma with minimal chromosomal aberrations, suggesting that fewer secondary hits are required for tumor induction if both oncoproteins are targeted.
|
22764207 |
2012 |
|
rs770726832
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study is focused on the extent of any such chromosomal aberrations with respect to chromium levels in the blood of welders as well as on the tentative modulating role of polymorphisms in DNA repair genes XPD Lys751Gln, XPG Asn114His, XPC Lys939Gln, hOGG1 Ser326Cys and XRCC1 Arg399Gln on chromosomal damage.
|
21858514 |
2012 |
|
rs773632957
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study is focused on the extent of any such chromosomal aberrations with respect to chromium levels in the blood of welders as well as on the tentative modulating role of polymorphisms in DNA repair genes XPD Lys751Gln, XPG Asn114His, XPC Lys939Gln, hOGG1 Ser326Cys and XRCC1 Arg399Gln on chromosomal damage.
|
21858514 |
2012 |
|
rs863225281
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Targeted ALK(F1174L) and MYCN coexpression revealed a strong synergism in inducing neuroblastoma with minimal chromosomal aberrations, suggesting that fewer secondary hits are required for tumor induction if both oncoproteins are targeted.
|
22764207 |
2012 |
|
rs1470755915
|
|
|
0.010 |
GeneticVariation |
BEFREE |
T allele of CYP2B6 516G>T SNP may be one of the risk factors predisposing to the pathogenesis of a majority of ALL and AML, but has no relationship with B-ALL and leukemia with or without chromosome abnormalities.
|
20878158 |
2011 |