FOXA1, forkhead box A1, 3169

N. diseases: 138; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Functional Variant rs4442975 Modulating FOXA1 Binding Affinity Can Influence Bone Marrow Suppression during Neoadjuvant Chemotherapy for Luminal A Type Breast Cancer. 30881995 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE ABC successfully identifies previously characterized functional SNVs, such as the rs4784227 breast cancer risk associated SNP that modulates the affinity of FOXA1 for the chromatin. 25995231 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE A new study shows that SNPs associated with breast cancer risk are located in enhancer regions and alter binding affinity for the pioneer factor FOXA1. 23104063 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Recently, the rs4442975 T-allele, which disrupts the recruitment of FOXA1 and interacts with the IGFBP5 promoter, was associated to BC susceptibility in a European population. 27835577 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Biological assays indicated that the germline G>T variation at rs6506689 creates a FOXA1-binding site and up-regulates the expression of RAB31, thus playing an important role in the development of BC. 30182384 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE NBCs less frequently harboured PIK3CA mutations than common forms of ER<sup>+</sup> /HER2<sup>-</sup> , luminal A and invasive lobular carcinomas (p < 0.05), and showed a significantly higher frequency of somatic mutations affecting ARID1A (17% versus 2%, p < 0.05) and the transcription factor-encoding genes FOXA1 (17% versus 2%, p = 0.01) and TBX3 (17% versus 3%, p < 0.05) than common-type ER<sup>+</sup> /HER2<sup>-</sup> breast carcinomas. 27925203 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE Our results show that breast cancer risk-associated SNPs are enriched in the cistromes of FOXA1 and ESR1 and the epigenome of histone H3 lysine 4 monomethylation (H3K4me1) in a cancer- and cell type-specific manner. 23001124 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE In this resource paper, we present the genome-wide localization analysis of SRC-3 chromatin affinity sites in MCF-7 human breast cancer chromatin and compare the cis binding sites to global cartographies for ER and FoxA1. 20181721 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE Ultrasound assisted gene and photodynamic synergistic therapy with multifunctional FOXA1-siRNA loaded porphyrin microbubbles for enhancing therapeutic efficacy for breast cancer. 29758547 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE A conserved PR binding element was identified in PR binding regions from both cell lines, but there were distinct patterns of enrichment of known cofactor binding motifs, with FOXA1 sites over-represented in breast cancer cell binding regions and NF1 and AP-1 motifs uniquely enriched in the immortalized normal line. 22545144 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE This study explored the FOXA1 relationship with luminal and basal breast cancer subtypes, proliferation markers, and survival in breast cancer patients who had received similar treatment. 18037662 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE Stable expression of FOXA1, but not ERα, reduced the expression of <i>IL6</i> in the FOXA1- and ERα-negative breast cancer MDA-MB-231 cells and TAM-R cells, without affecting the activation of the NF-κB signaling pathways. 28270510 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE The analysis revealed already well-established associations with XBP1 and FOXA1, but also identified a strong association with CT62, a potential immunotherapeutic target with few previous associations with breast cancer. 30760519 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE Recently, a groundbreaking study by the Lupien group has shown that risk-associated SNPs of breast cancer are enriched for FOXA1 binding sites, which influences the function of this transcription factor. 23427833 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease CTD_human Our results show that breast cancer risk-associated SNPs are enriched in the cistromes of FOXA1 and ESR1 and the epigenome of histone H3 lysine 4 monomethylation (H3K4me1) in a cancer- and cell type-specific manner. 23001124 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE Interdependency between these three factors in breast cancer and normal mammary development has been suggested, but the specific role for FOXA1 is not known. 20501593 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE The comparison of our signature with two pioneering signatures, the Sorlie's signature and PAM50, suggests a novel marker, FOXA1, in breast cancer classification. 26404658 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE FOXA1, a known driver of hormone-receptor positive breast cancer, harbours a mutational hotspot in its promoter leading to overexpression through increased E2F binding. 28658208 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE FOXA1 immunoreactivity was significantly elevated in the relapse-free breast cancer patients treated with tamoxifen. 22476979 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE This is in line with other studies suggesting these SNPs as risk-associated polymorphisms which may lead to a change in the affinity of FOXA1, as a distal enhancer, to <i>TOX3</i> and thus change in <i>TOX3</i> expression, which can eventually affect the risk of breast cancer. 31338012 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE Here in this study, we aimed to identify which are the proteins that could potentially control FOXA1 function in breast cancer cell lines expressing different molecular markers. 30572598 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE The Lineage Determining Factor GRHL2 Collaborates with FOXA1 to Establish a Targetable Pathway in Endocrine Therapy-Resistant Breast Cancer. 31644911 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE In contrast, constitutive (MYC, TBX3) and signal-induced (TP53, FOXA1) DB-TFs that do not mediate default repression are directly altered in breast cancer. 28215225 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE FOXA1 knockdown in the epithelial breast cancer MCF7 cells reduced E-cadherin protein expression without decreasing its mRNA expression. 28867731 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE Particularly, our model correctly prioritized SNPs that are proved to be enriched for the binding sites of FOXA1 in breast cancer cell lines from previous studies. 28361702 2017