|
rs57374291
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we predicted and analyzed the impact of three deleterious coding non-synonymous single nucleotide polymorphisms rs121909218 (G129E), rs121909229 (R130Q) and rs57374291 (D107N) in the PTEN gene on the phenotype of breast tumors using computational tools SIFT, Polyphen-2, PROVEAN, MUPro, POPMusic and the GETAREA server.
|
27221918 |
2016 |
|
rs1675126
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The synonymous SNP rs1675126 in exon 7 of INCENP was associated with overall breast cancer risk [per A allele odds ratio (OR) 0.95, 95% confidence interval (CI) 0.92-0.98, P = 0.007] and particularly with estrogen receptor (ER)-negative breast tumors (per A allele OR 0.89, 95% CI 0.83-0.95, P = 0.0005).
|
25586992 |
2015 |
|
rs228648
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, these results strongly suggest that urotensin-II could contribute to breast carcinogenesis and Thr21Met polymorphism can be an important risk factor in developing breast tumors.
|
25604143 |
2015 |
|
rs63750624
|
|
|
0.010 |
GeneticVariation |
BEFREE |
2/2 ovarian and 2/9 breast tumors carried MSH2 somatic mutations possible pathogenics (4/11, 36%): a missense mutation in exon 3 (p.G162R), a duplication of exon 1 and a deletion of exon 2.
|
26381082 |
2015 |
|
rs11540654
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (R110P), rs17849781 (P278A) and rs28934874 (P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB.
|
25105660 |
2014 |
|
rs1704754
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, we found the 17β-HSD7 rs1704754_C allele to be associated with elevated mRNA (p=0.050) but not to E2 levels in breast tumour tissue.
|
24560990 |
2014 |
|
rs17506395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
First, we found that breast tumors with TT genotype exhibited higher level of p63 mRNA compared with other genotypes in breast cancer tissues, indicating that rs17506395 may be a functional single nucleotide polymorphism in breast cancer.
|
24316488 |
2014 |
|
rs2273535
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A significant relationship between the rs2273535 polymorphism in the AURKA gene and breast tumor in Asian group was found in an allelic genetic model (OR: 1.124, 95% CI: 1.003-1.29, p=0.044, Pheterogeneity=0.034), a homozygote model (OR: 1.229, 95% CI: 1.038-1.455, p=0.016, Pheterogeneity=0.266) and a recessive genetic model (OR: 1.227, 95% CI: 1.001-1.504, p=0.049, Pheterogeneity=0.006).
|
25169513 |
2014 |
|
rs56391007
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutations in both MET (p.T992I) and PIK3CA (p.H1047R).
|
24318467 |
2014 |
|
rs7716600
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, we showed the rs7716600 risk genotype was associated with decreased MRPS30 promoter methylation exclusively in ER-positive breast tumors.
|
24388359 |
2014 |
|
rs876660254
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (R110P), rs17849781 (P278A) and rs28934874 (P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB.
|
25105660 |
2014 |
|
rs7984952
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The provided information may facilitate the design of independent studies to validate the association between USPL1 rs7984952 and risk of Grade 3 breast tumors.
|
23338788 |
2013 |
|
rs1302103336
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found an even stronger significant association between the CHEK2 I157T C variant and increased risk of lobular type breast tumors (OR = 4.17, 95% CI = 2.89-6.03, P < 0.0001).
|
22799331 |
2012 |
|
rs13283662
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, except for the association of rs13283662 with TOX3 gene expression indicating a tumor suppressor role of TOX3, our findings suggest that breast cancer low-risk loci generally do not affect expression of the nearest gene in breast tumor tissue.
|
21748294 |
2012 |
|
rs80357034
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two genetic variants were initially classified as VUSs (c.1155C>T and c.5191C>A). c.1155C>T is not predicted to be deleterious in the prescreening portion of our assessment strategy. c.5191C>A, on the other hand, causes p.T1691K, which is predicted to have high deleterious probability because of significant structural alteration, a high deleterious score in the predictive programs and, clinically, triple negative characteristics in breast tumors.
|
22277901 |
2012 |
|
rs121434592
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Available paired tissue samples from breast tumors known to harbor mutations underwent massARRAY genotyping (n = 70) to identify PIK3CA and AKT1(E17K) mutations.
|
21617917 |
2011 |
|
rs1389945622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe an HNPCC patient, with early-onset colorectal cancer and a strong family history of colorectal and breast tumors, who harbours a germ line MLH1 intronic variant (IVS9 c.790 +4A>T).
|
20717847 |
2011 |
|
rs587779003
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe an HNPCC patient, with early-onset colorectal cancer and a strong family history of colorectal and breast tumors, who harbours a germ line MLH1 intronic variant (IVS9 c.790 +4A>T).
|
20717847 |
2011 |
|
rs1213469537
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Even when using this sensitive method, none of the 80 estrogen receptor-positive breast tumors had the P132L mutation.
|
20581046 |
2010 |
|
rs555016384
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The observation of BRCA2 -26 G/A 5'UTR polymorphism concomitant with the presence of methylation in the promoter region was novel and emerged as a strong candidate for susceptibility to sporadic breast tumors.
|
21092294 |
2010 |
|
rs587782137
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The observation of BRCA2 -26 G/A 5'UTR polymorphism concomitant with the presence of methylation in the promoter region was novel and emerged as a strong candidate for susceptibility to sporadic breast tumors.
|
21092294 |
2010 |
|
rs730881360
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The observation of BRCA2 -26 G/A 5'UTR polymorphism concomitant with the presence of methylation in the promoter region was novel and emerged as a strong candidate for susceptibility to sporadic breast tumors.
|
21092294 |
2010 |
|
rs752742313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the combined treatment of DSF and LY294002 significantly inhibited the growth of the breast tumor xenograft in nude mice induced by MDA-MB-231 cells expressing mutant PIK3CA-H1047R and PIK3CA-E545K, whereas neither DSF nor LY294002 alone could significantly retard tumor growth.
|
20424113 |
2010 |
|
rs778212685
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The observation of BRCA2 -26 G/A 5'UTR polymorphism concomitant with the presence of methylation in the promoter region was novel and emerged as a strong candidate for susceptibility to sporadic breast tumors.
|
21092294 |
2010 |
|
rs80357635
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The observation of BRCA2 -26 G/A 5'UTR polymorphism concomitant with the presence of methylation in the promoter region was novel and emerged as a strong candidate for susceptibility to sporadic breast tumors.
|
21092294 |
2010 |