Gene: AR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852593
rs137852593
AR
0.040 GeneticVariation BEFREE R726L androgen receptor mutation is uncommon in prostate cancer families in the united states. 12539229

2003
dbSNP: rs137852593
rs137852593
AR
0.040 GeneticVariation BEFREE To estimate the possible involvement of the prostate cancer predisposing AR Arg726Leu germ-line mutation in MBC, this mutation was tested in 117 MBC patients. 12602915

2003
dbSNP: rs137852593
rs137852593
AR
0.040 GeneticVariation BEFREE The present study indicates that the R726L substitution in the AR may confer an up to 6-fold increased risk of prostate cancer and may contribute to cancer development in up to 2% of Finnish prostate cancer patients. 11103816

2000
dbSNP: rs864622007
rs864622007
AR
0.030 GeneticVariation BEFREE Our results indicate that the specific amino acid residue at position 701, its interaction with the backbone of Ser(778), and the steroidal 17alpha-hydroxyl group of the ligand are all important for the distinct transcriptional responses to progesterone and cortisol of AR mutants, including the prostate cancer mutant L701H. 20007693

2010
dbSNP: rs864622007
rs864622007
AR
0.030 GeneticVariation BEFREE This mutant AR contains two mutations (L701H and T877A) and was previously reported as a high-affinity cortisol/cortisone responsive AR (AR(ccr)) isolated from the androgen-independent human prostate cancer cell lines MDA PCa 2a and 2b (Zhao et al.Nature Med.2000, 6, 703-6). 11906285

2002
dbSNP: rs864622007
rs864622007
AR
0.030 GeneticVariation BEFREE The cortisol/cortisone-responsive AR (AR(ccr)) has two mutations (L701H and T877A) that were found in the MDA PCa human prostate cancer cell lines established from a castrated patient whose metastatic tumor exhibited androgen-independent growth. 11956172

2002
dbSNP: rs1057519864
rs1057519864
AR
0.020 GeneticVariation BEFREE Using multiple prostate cancer cell lines, we showed that catalytic Topo II inhibitors, ICRF187 and ICRF193 inhibited transcription activities of the wild-type AR, mutant ARs (F876L and W741C) and the AR-V7 splice variant. 26009876

2015
dbSNP: rs1057519864
rs1057519864
AR
0.020 GeneticVariation BEFREE A missense mutation in the ligand-binding domain of the androgen receptor F876L confers resistance to the second-generation antiandrogens enzalutamide and ARN-509 in preclinical models of AR function and prostate cancer and is detected in plasma DNA from ARN-509-treated patients with progressive disease. 23779130

2013
dbSNP: rs976306779
rs976306779
AR
0.020 GeneticVariation BEFREE Moreover, the results confirm the oncogenic nature of S100P in prostate cancer and suggest that the protein may directly confer resistance to chemotherapy. 18452169

2008
dbSNP: rs137852581
rs137852581
AR
0.020 GeneticVariation BEFREE T can nevertheless acquire DHT-like activity through an AR helix-10 H874Y prostate cancer mutation. 17591767

2007
dbSNP: rs976306779
rs976306779
AR
0.020 GeneticVariation BEFREE A link between elevated IL6 and up-regulated S100P in androgen-refractory and metastatic PCa is postulated. 15474988

2005
dbSNP: rs137852581
rs137852581
AR
0.020 GeneticVariation BEFREE SfaNI digestion of AR exon H DNA from normal but not from prostate cancer tissue indicated H874Y is a somatic mutation that occurred before the initial tumor transplant. 9092797

1997
dbSNP: rs6624304
rs6624304
AR
0.010 GeneticVariation BEFREE Swedish men with the variant AR haplotype H2, tagged by rs6624304, have significantly lower risk of PCa compared to those with the more common variant. 28176139

2017
dbSNP: rs6152
rs6152
AR
0.010 GeneticVariation BEFREE To investigate the relationships between male androgenetic alopecia, androgen receptor (AR) gene polymorphism (SNP rs6152) and clinical characteristics of BPH and prostate cancer. 24665929

2015
dbSNP: rs777787518
rs777787518
AR
0.010 GeneticVariation BEFREE MDA prostate cancer 118a and MDA prostate cancer 118b cells carry a mutated β-catenin at codon 32 (D32G). 22298898

2012
dbSNP: rs139756052
rs139756052
AR
0.010 GeneticVariation BEFREE Additional studies will be required to define the frequency and contribution of the AR (A1675T) allele to early-onset and/or familial PCa in African Americans. 20173765

2010
dbSNP: rs968098233
rs968098233
AR
0.010 GeneticVariation BEFREE Although the vast majority of AR mutations appeared capable of increased activation in response to ART-27, an AR mutation identified in prostate cancer (AR P340L) and AIS (AR E2K) show reduced transcriptional responses to ART-27, whereas their response to the p160 class of coactivators was not diminished. 15919721

2005
dbSNP: rs137852571
rs137852571
AR
0.010 GeneticVariation BEFREE In prostate cancer DU-145 cells, which were transiently transfected with CBP cDNA, hydroxyflutamide enhanced AR activity to a greater extent than bicalutamide in the presence of either wild-type or the mutated AR 730 val-->met. 12507906

2003