|
rs28897672
|
|
|
0.730 |
GeneticVariation |
BEFREE |
While the Cys61Gly mutation appeared underrepresented in ovarian cancer as compared with breast cancer cases from the same population (p = 0.01), the 4153delA mutation made a higher contribution to ovarian cancer than to breast cancer (p < 0.01).
|
20569256 |
2010 |
|
rs28897672
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We identified a founder mutation (4153delA, 5382insC or C61G) in 6% of 235 unselected cases of breast cancer and in 19% of 43 unselected cases of ovarian cancer.
|
20345474 |
2010 |
|
rs28897672
|
|
|
0.730 |
GeneticVariation |
BEFREE |
The risk for breast cancer was 42% higher among first degree relatives of carriers of the C61G missense mutation compared to other mutations (HR = 1.42; p = 0.10) and the risk for ovarian cancer was lower than average (OR = 0.26; p = 0.03).
|
16227521 |
2006 |
|
rs1799950
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Further characterisation of rs1799950 is now warranted in relation to chemosensitivity and susceptibility to developing ovarian carcinoma.
|
29298688 |
2018 |
|
rs1799950
|
|
|
0.030 |
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 |
|
rs1799950
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The rare form of the Q356R polymorphism was significantly ( P = 0.03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk.
|
10196379 |
1999 |
|
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 |
|
rs80357796
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The rare form of the Q356R polymorphism was significantly ( P = 0.03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk.
|
10196379 |
1999 |
|
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 |