|
rs80357522
|
|
CT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs80357678
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1799950
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Further characterisation of rs1799950 is now warranted in relation to chemosensitivity and susceptibility to developing ovarian carcinoma.
|
29298688 |
2018 |
|
rs1799950
|
|
|
0.040 |
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
|
|
|
0.040 |
GeneticVariation |
BEFREE |
No association was detected between EOC risk and BRCA1 Q356R, BRCA1 P871L, RAD51 g135c, RAD51 g172t, RAD52 c2259t, NBS1 L34L, NBS1 E185Q, NBS1 A399A, NBS1 P672P, XRCC2 g4324c, XRCC2 c41657t and XRCC3 T241M.
|
15924337 |
2005 |
|
rs1799950
|
|
|
0.040 |
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 |
|
rs28897672
|
|
|
0.030 |
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
|
|
|
0.030 |
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 |
|
rs80357796
|
|
|
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 |
|
rs28897672
|
|
|
0.030 |
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 |
|
rs80357796
|
|
|
0.030 |
GeneticVariation |
BEFREE |
No association was detected between EOC risk and BRCA1 Q356R, BRCA1 P871L, RAD51 g135c, RAD51 g172t, RAD52 c2259t, NBS1 L34L, NBS1 E185Q, NBS1 A399A, NBS1 P672P, XRCC2 g4324c, XRCC2 c41657t and XRCC3 T241M.
|
15924337 |
2005 |
|
rs80357796
|
|
|
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 |
|
rs80357138
|
|
|
0.020 |
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 |
|
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 |
|
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 |
|
rs80357138
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The XRCC2 R188H polymorphism was associated with a modest reduction in EOC risk: OR for heterozygotes was 0.8 (95% confidence interval [CI] = 0.7-1.0) and for rare homozygotes 0.3 (0.1-0.9).
|
15924337 |
2005 |
|
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 |
|
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 |