|
rs1024708183
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Chromosome analysis shows abundant chromosome aberrations, while whole exome sequencing (WES) reveals a typical NRAS mutation (Q61R).
|
29653142 |
2018 |
|
rs1052133
|
|
Congenital chromosomal disease
|
|
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 |
|
rs1057519695
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Chromosome analysis shows abundant chromosome aberrations, while whole exome sequencing (WES) reveals a typical NRAS mutation (Q61R).
|
29653142 |
2018 |
|
rs1057519834
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Chromosome analysis shows abundant chromosome aberrations, while whole exome sequencing (WES) reveals a typical NRAS mutation (Q61R).
|
29653142 |
2018 |
|
rs1057520007
|
|
Congenital chromosomal disease
|
|
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
|
|
Congenital chromosomal disease
|
|
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 |
|
rs113488022
|
|
Congenital chromosomal disease
|
|
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 |
|
rs11554290
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Chromosome analysis shows abundant chromosome aberrations, while whole exome sequencing (WES) reveals a typical NRAS mutation (Q61R).
|
29653142 |
2018 |
|
rs1217691063
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The homozygous (T/T) C677T polymorphism of the MTHFR gene was present at a statistically high significance in unexplained infertile men with normal karyotype, instead at no significance in explained infertile men with chromosomal abnormality or Y chromosome deletion.
|
16247718 |
2005 |
|
rs121913377
|
|
Congenital chromosomal disease
|
|
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 |
|
rs121965059
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The homozygous (T/T) C677T polymorphism of the MTHFR gene was present at a statistically high significance in unexplained infertile men with normal karyotype, instead at no significance in explained infertile men with chromosomal abnormality or Y chromosome deletion.
|
16247718 |
2005 |
|
rs1372047743
|
|
Congenital chromosomal disease
|
|
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 |
|
rs1383997
|
|
Congenital chromosomal disease
|
|
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 |
|
rs1395746092
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs1431381385
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs1470755915
|
|
Congenital chromosomal disease
|
|
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 |
|
rs1486253194
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs150547487
|
|
Congenital chromosomal disease
|
|
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 |
|
rs17655
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs1800566
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The effects of genetic polymorphisms in the NQO1 (rs1800566), MPO (rs2333227), and XRCC1 (rs25487) genes on benzene-induced chromosome abnormalities were assessed in 108 benzene-exposed workers and 33 office workers.
|
18214807 |
2008 |
|
rs2232365
|
|
Congenital chromosomal disease
|
|
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 |
|
rs25489
|
|
Congenital chromosomal disease
|
|
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 |
|
rs281864719
|
|
Congenital chromosomal disease
|
|
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 |
|
rs2824215
|
|
Congenital chromosomal disease
|
|
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 |
|
rs3087468
|
|
Congenital chromosomal disease
|
|
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 |