|
rs77375493
|
|
Congenital chromosomal disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Cytogenetic abnormalities and molecular markers such as JAK2 V617F, ASXL1, and CALR mutations have also been identified as prognostic variables.
|
25189726 |
2014 |
|
rs61748181
|
|
Congenital chromosomal disease
|
|
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 |
|
rs662
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Q192R polymorphism plays a role in CLL predisposition and the formation of specific chromosomal aberrations.
|
31177124 |
2019 |
|
rs77375493
|
|
Congenital chromosomal disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Among 50 PMF patients, CALR mutations were detected in 11 (22.0%) and were also associated with higher platelet counts (P=0.035) and trended to a lower rate of cytogenetic abnormalities (P=0.059) than the JAK2 V617F mutation.
|
26130950 |
2015 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs878854066
|
|
Congenital chromosomal disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
In conclusion, the TP53 gene Arg72Pro polymorphism appreciably influence on occurrence of chromosome aberrations</span> in cancer.
|
20512840 |
2010 |
|
rs1131691014
|
|
Congenital chromosomal disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
In conclusion, the TP53 gene Arg72Pro polymorphism appreciably influence on occurrence of chromosome aberrations</span> in cancer.
|
20512840 |
2010 |
|
rs1042522
|
|
Congenital chromosomal disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
In conclusion, the TP53 gene Arg72Pro polymorphism appreciably influence on occurrence of chromosome aberrations</span> in cancer.
|
20512840 |
2010 |
|
rs61754966
|
|
Congenital chromosomal disease
|
|
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 |
|
rs13181
|
|
Congenital chromosomal disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Moreover, the clearest differences were found for rs13181 in ERCC2 and rs25487 in XRCC1 between CLL patients with unfavorable cytogenetic aberrations and controls.
|
19484764 |
2009 |
|
rs25487
|
|
Congenital chromosomal disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
Moreover, the clearest differences were found for rs13181 in ERCC2 and rs25487 in XRCC1 between CLL patients with unfavorable cytogenetic aberrations and controls.
|
19484764 |
2009 |
|
rs9344
|
|
Congenital chromosomal disease
|
|
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 |
|
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 |
|
rs13181
|
|
Congenital chromosomal disease
|
|
0.030 |
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
|
|
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 |
|
rs770726832
|
|
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 |
|
rs2228001
|
|
Congenital chromosomal disease
|
|
0.020 |
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 |
|
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 |
|
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 |