rs567534295
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analyses performed under logistic model, linear mixed model, and model incorporating correlations identified nine significant associations with three gynecologic diseases including four novel findings (rs79219469:C > T, LINC02183, P = 3.3 × 10<sup>-8</sup> and rs567534295:C > T, BRCA1, P = 3.1 × 10<sup>-8</sup> with OC, rs150806792:C > T, INS-IGF2, P = 4.9 × 10<sup>-8</sup> and rs140991990:A > G, SOX9, P = 3.3 × 10<sup>-8</sup> with UCC).
|
31488892 |
2020 |
rs80356897
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, two non-synonymous SNPs rs201407189 (c.973G>A, p.A325T) and rs1800367 (c.1345G>A, p.V449M), and two synonymous SNPs rs55719336 (c.816C>T, p.I272I) and rs79722116 (c.1407G>A, p.T469T) were identified in FBOC patients.
|
30967997 |
2019 |
rs80357268
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BRCA1, p.(Val1833Met) is possibly a disease-associated variant, supported by a likelihood ratio of 1.88, while a correlation to ovarian cancer is suspected.
|
31447071 |
2019 |
rs80357106
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The BRCA1 mutation c.3319G>T was, compared to other BRCA1 mutations, associated with a higher risk for ovarian cancer.
|
26833046 |
2016 |
rs80357517
|
|
|
0.010 |
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 |
rs190900046
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three novel protein-truncating mutations, c.204T>A, c.225T>G, and c.701C>G, were identified. c.204T>A was found in one out of 22 (4.5 %) early-onset (≤45 years of age) ovarian cancer patients and c.225T>G in one out of 119 (0.8 %) patients from breast cancer only families. c.701C>G was found in a 60-year-old control with no family history of breast/ovarian cancer.
|
24800917 |
2014 |
rs11655505
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer.
|
23657760 |
2013 |
rs80357138
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (K751Q) and CDKN1B (V109G) which are with moderate risk for ovarian cancer susceptibility in Egyptian women.
|
23277402 |
2013 |
rs41293459
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
|
22889855 |
2012 |
rs80356952
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis that evaluated associations for breast and ovarian cancer</span> simultaneously showed some evidence that BRCA1 mutation carriers who had the rare homozygote genotype (TT) of the PHB 1630 C>T polymorphism were at increased risk of both breast and ovarian cancer (HR 1.50, 95%CI 1.10-2.04 and HR 2.16, 95%CI 1.24-3.76, respectively).
|
22669161 |
2012 |
rs80357115
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The spectrum of germline mutations among Jewish non Ashkenazi high risk breast/ovarian cancer families includes a few predominant mutations in BRCA1 (185delAG and Tyr978X) and BRCA2 (8765delAG).
|
22399190 |
2012 |
rs80357327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have also identified a BRCA1 nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in another Greenlandic individual with ovarian cancer.
|
20437199 |
2010 |
rs879255288
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer.
|
20437199 |
2010 |
rs876660702
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The BRCA1 G5193A mutation is too rare to contribute significantly to ovarian cancer in Iceland.
|
15571962 |
2004 |
rs1800709
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R841W is likely to be an etiologically significant lesion with involvement in close to 1% (95% confidence interval of 0-1.7%) of all breast and ovarian cancers in this population.
|
8968716 |
1996 |
rs28897696
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Any one of four germ-line mutations in the C-terminal region found in patients with breast or ovarian cancer (Ala-1708-->Glu, Gln-1756 C+, Met-1775-->Arg, Tyr-1853 ->Stop), had markedly impaired transcription activity.
|
8942979 |
1996 |
rs748876625
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This finding indicates the necessity of searching for 300T>G mutation in families with a single diagnosis of ovarian cancer in family.
|
22395474 |
2012 |
rs786203319
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers.
|
19876733 |
2010 |
rs80357750
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers.
|
19876733 |
2010 |
rs886039920
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers.
|
19876733 |
2010 |
rs80357796
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We resequenced BRCA1 and BRCA2 in 194 women with a familial history of breast and/or ovarian cancer and identified nine possibly biologically relevant polymorphisms (BRCA1 Gln356Arg, Pro871Leu, Glu1038Gly, Ser1613Gly, and Met1652Ile.
|
19661094 |
2009 |
rs786203319
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk.
|
17220212 |
2007 |
rs80357750
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk.
|
17220212 |
2007 |
rs886039920
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk.
|
17220212 |
2007 |
rs748876625
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A group of 63 families from the Pomerania-Kujawy region were analyzed for three BRCA1 gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history.
|
14986830 |
2003 |