|
rs1057519847
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Shock-frozen samples from 32 patients with OC were screened for L858R deletion mutations of EGFR within exon 21 of the kinase domain and 15 bp deletion in exon 19.
|
17595771 |
2007 |
|
rs1057519848
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Shock-frozen samples from 32 patients with OC were screened for L858R deletion mutations of EGFR within exon 21 of the kinase domain and 15 bp deletion in exon 19.
|
17595771 |
2007 |
|
rs1057519865
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A somatic missense mutation in the forkhead box L2 (FOXL2) gene (C134W) is unique to adult GCT, and absent in other ovarian cancers.
|
26791928 |
2016 |
|
rs1064795649
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs10756819
|
|
|
0.700 |
GeneticVariation |
GWASDB |
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.
|
19648919 |
2009 |
|
rs10810666
|
|
|
0.700 |
GeneticVariation |
GWASDB |
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.
|
19648919 |
2009 |
|
rs10962656
|
|
|
0.700 |
GeneticVariation |
GWASDB |
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.
|
19648919 |
2009 |
|
rs11084033
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This finding is consistent with bioinformatic analysis predicting the rs11084033 rare allele to be responsible for the loss of a confirmed androgen response element, and with published expression data suggesting that aggressive ovarian cancers show decreased KLK3 tumor expression.
|
21787114 |
2011 |
|
rs1130409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs1130409 polymorphism was significantly associated with a risk for ovarian cancer.
|
24257553 |
2013 |
|
rs1131691014
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Cumulative risk analysis revealed 3 unfavorable variants that increased significantly the risk of developing ovarian cancer (p.Ile1145 = ABCB1+ p.Asp1853Asn ATM+ p.Ser406Ala ATP7B- OR 7,47; p = 0,002) and significantly modified the progression free survival (PFS) of the patients, and also two favorable genotypes which protected against ovarian cancer (p.Arg952Lys ATP7B+ p.Arg72Pro TP53- OR 0,50; p = 0,008).
|
25591549 |
2015 |
|
rs1131691014
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Meta-analysis shows significant association of the TP53 Arg72Pro with ovarian cancer risk.
|
21952824 |
2012 |
|
rs1131691022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a proof of concept, we show that the combination of D269H/E195R, nutlin-3 and cisplatin induced massive apoptosis in ex vivo tissue slices of primary human ovarian cancers.
|
24136147 |
2013 |
|
rs113488022
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Genetic analyses have identified BRAF V600E mutations in a subset of ovarian carcinomas.
|
22820660 |
2013 |
|
rs113488022
|
|
|
0.060 |
GeneticVariation |
BEFREE |
One recurrent somatic mutation, p.V600E, is frequently found in several tumor types, such as melanoma, papillary thyroid carcinoma, colon cancer, and ovarian cancer.
|
20735442 |
2011 |
|
rs113488022
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Sustained response to vemurafenib in a low grade serous ovarian cancer with a BRAF V600E mutation.
|
26490654 |
2015 |
|
rs113488022
|
|
|
0.060 |
GeneticVariation |
BEFREE |
BRAF V600E protein was expressed in BM of 42/76 (55.3%) melanomas, 1/15 (6.7%) ovarian cancers, 4/72 (5.5%) colorectal cancers, 1/355 (0.3%) lung cancers, 2/6 thyroid cancers and 1/2 choriocarcinomas.
|
22012135 |
2012 |
|
rs113488022
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The presence of the BRAF V600E mutation in SB/LGS ovarian cancer was associated with early stage disease and improved prognosis.
|
22930283 |
2013 |
|
rs113488022
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Germ line and somatic mutations of BRAF V599E in ovarian carcinoma.
|
17309670 |
2007 |
|
rs1136201
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The role of the human epidermal growth factor receptor 2 (HER2) codon 655 (Ile655Val) polymorphism in ovarian cancer is not fully understood.
|
26666819 |
2016 |
|
rs1136201
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Furthermore, no significant association between allelic, dominant, codominant and recessive models of HER2 rs1801200 (V655I) and ovarian cancer was found (<i>p</i> > 0.05).
|
29535531 |
2018 |
|
rs1136905
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We established that <i>TP53</i> "hotspot" mutations (c.659A>G; p.Y220C and c.733G>A; p.G245S) expressed by two different patients' tumors were both immunogenic in the context of HLA-DRB3*02:02.<b>Conclusions:</b> Mutation-reactive T cells infiltrated ovarian cancer metastases at sufficient frequencies to warrant their investigation as adoptive cell therapy.
|
29853601 |
2018 |
|
rs113954997
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs11571833
|
|
|
0.020 |
GeneticVariation |
BEFREE |
However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer.
|
29767749 |
2018 |
|
rs11571833
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10(-) (6)) and invasive ovarian cancer</span> (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10(-3)).
|
26586665 |
2016 |
|
rs11651755
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As rs11651755 in HNF1B modified both the ovarian cancer risk and also the risk for endometriosis, HNF1B may be causally involved in the pathogenetic pathway leading from endometriosis to ovarian cancer.
|
28214017 |
2017 |