|
rs1131691014
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival.
|
20021639 |
2009 |
|
rs17879961
|
|
|
0.020 |
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 |
|
rs17879961
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our analyses suggest that there are fundamental differences in breast tumors of CHEK2:p.I157T and c.1100delC carriers.
|
27716369 |
2016 |
|
rs878854066
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival.
|
20021639 |
2009 |
|
rs878854066
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our aim was to evaluate association of R72P with breast cancer risk as well as histopathologic features of the breast tumors and survival.
|
16033823 |
2005 |
|
rs1056892
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Another variant CBR3 730G>A was associated with higher doxorubicinol AUC (P=0.009, GG vs. AA) and CBR3 expression in breast tumor tissue (P=0.001, GG vs AA).
|
18551042 |
2008 |
|
rs1058808
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, we found significant differences in the distribution of Ile655Val (p = 0.03) and Ala1170Pro (p = 0.01) genotypes between normal breast and breast tumor tissues.
|
27788409 |
2016 |
|
rs10941679
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Expression quantitative trait locus analysis in normal breast tissues and breast tumors showed that the g (risk) allele of rs10941679 was associated with increased expression of FGF10 and MRPS30.
|
27640304 |
2016 |
|
rs1136201
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, we found significant differences in the distribution of Ile655Val (p = 0.03) and Ala1170Pro (p = 0.01) genotypes between normal breast and breast tumor tissues.
|
27788409 |
2016 |
|
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 |
|
rs11895168
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, no study has been conducted to investigate the importance of rs11895168, a microRNA-related SNP located in ErbB4 3'UTR, in breast tumors.
|
27262100 |
2016 |
|
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 |
|
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 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subgroup analyses by menopausal status, hormone receptor status of breast tumors (estrogen receptor [ER], progesterone receptor [PR] and human epidermal growth factor receptor 2 [HER2]), alcohol intake and MTHFR polymorphisms (677C > T and 1298A > C) were also performed.
|
27905104 |
2017 |
|
rs121909218
|
|
|
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 |
|
rs121913292
|
|
|
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 |
|
rs121913529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Application of these signatures to breast tumor gene expression data identified two novel discrete phenotypes characterized by concordant, aberrant activation of either the HER2, IGF1R, and AKT pathways ("the survival phenotype") or the EGFR, KRAS (G12V), RAF1, and BAD pathways ("the growth phenotype").
|
28446242 |
2017 |
|
rs1239905891
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The purposes of this study were to analyse the genotype of TGF-beta1 at T29C and TGF-beta1 phenotype in breast tumours, and to evaluate their associations with IGFs and clinical characteristics of breast cancer.
|
18827819 |
2008 |
|
rs1273593548
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Application of these signatures to breast tumor gene expression data identified two novel discrete phenotypes characterized by concordant, aberrant activation of either the HER2, IGF1R, and AKT pathways ("the survival phenotype") or the EGFR, KRAS (G12V), RAF1, and BAD pathways ("the growth phenotype").
|
28446242 |
2017 |
|
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 |
|
rs1353702185
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival.
|
20021639 |
2009 |
|
rs138213197
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although HOXB13 also plays a role in breast tumor progression, the association of HOXB13 p.G84E with breast cancer risk is less evident.
|
27424772 |
2016 |
|
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 |
|
rs1444192401
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A direct sequencing analysis of p53 revealed a p.V173M mutation in exon 5 in both the breast tumor and the ovarian cancer.
|
28662703 |
2017 |