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 |
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 |
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 |
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 |
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 |
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 |
rs11655505
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer.
|
23657760 |
2013 |
rs41293459
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
|
22889855 |
2012 |
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 |
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 |
rs1799950
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Further characterisation of rs1799950 is now warranted in relation to chemosensitivity and susceptibility to developing ovarian carcinoma.
|
29298688 |
2018 |
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 |
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
|
|
|
0.010 |
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 |
rs876660702
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The BRCA1 G5193A mutation is too rare to contribute significantly to ovarian cancer in Iceland.
|
15571962 |
2004 |
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 |
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 |
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 |
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 |
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 |
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 |