|
rs2306969
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A luciferase reporter assay was performed using two breast tumor cell lines to evaluate respectively the impact of FUT3 rs2306969 (-6951 CC) and (-6951 TT) on protein expression.
|
30929162 |
2019 |
|
rs747489687
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The MCPH1 p.Arg304ValfsTer3 carrier breast tumors showed recurrent tumor suppressor gene TP53 mutations, which were also significantly over-represented in breast tumors with somatically inactivated MCPH1.
|
30809794 |
2019 |
|
rs1972820
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, no study has been dedicated to analyze the significance of microRNA-related SNP rs1972820, located in ERBB4 3'-untranslated region (UTR), in breast tumors.
|
28508829 |
2018 |
|
rs6505162
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significantly higher levels of miR-140-5p, miR-194 and miR-423-5p (the last of which harbours the single-nucleotide polymorphism rs6505162) were seen in the breast tumours of Nigerian patients when compared with other ethnic groups (all p < 0.0001). miR-101 was overexpressed in breast cancers in the Indian patients.
|
29791912 |
2018 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs1801725
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data suggest that decreased sensitivity of the CaSR to calcium due to inactivating polymorphisms at rs1801725, may predispose up to 20% of BC cases to high circulating calcium-associated larger and/or aggressive breast tumors.
|
28764683 |
2017 |
|
rs397507444
|
|
|
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 |
|
rs727503094
|
|
|
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 |
|
rs777081311
|
|
|
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 |
|
rs904571820
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs201498575
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We recently identified a novel NHERF1 mutation (E43G) in breast tumours.
|
26977012 |
2016 |
|
rs2787486
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus.
|
27600471 |
2016 |
|
rs3803662
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Methylation QTL (mQTL) analyses showed a weak or no correlation of rs3803662 or rs4784227 with TOX3 promoter methylation in breast tumors, indicating an independent relationship between the genetic and epigenetic events.
|
27806084 |
2016 |
|
rs4784227
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Methylation QTL (mQTL) analyses showed a weak or no correlation of rs3803662 or rs4784227 with TOX3 promoter methylation in breast tumors, indicating an independent relationship between the genetic and epigenetic events.
|
27806084 |
2016 |
|
rs55680408
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We used large-scale genetic and clinical resources from the ENIGMA, CIMBA and BCAC consortia to assess pathogenicity of c.594-2A > C. The combined odds for causality considering case-control, segregation and breast tumor pathology information was 3.23 × 10<sup>-8</sup> Our data indicate that c.594-2A > C is always in cis with c.641A > G. The spliceogenic effect of c.[594-2A > C;641A > G] was characterized using RNA analysis of human samples and splicing minigenes.
|
27008870 |
2016 |