| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Malignant neoplasm of prostate
|
0.830 | 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 | |||||
Malignant neoplasm of prostate
|
0.830 | 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 | |||||
Malignant neoplasm of prostate
|
0.830 | 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 | |||||
Malignant neoplasm of prostate
|
0.830 | GeneticVariation | CLINVAR | ||||||||
Malignant neoplasm of prostate
|
0.830 | GeneticVariation | UNIPROT | ||||||||
Androgen-Insensitivity Syndrome
|
0.700 | GeneticVariation | UNIPROT | ||||||||
Prostate carcinoma
|
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 | |||||
Prostate carcinoma
|
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 | |||||
Prostate carcinoma
|
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 | |||||
Neoplasms
|
0.010 | GeneticVariation | BEFREE | Whereas AR copy number was unchanged from before treatment to progression and no mutant AR alleles showed signal for acquired gain, we observed emergence of T878A or L702H AR amino acid changes in 13% of tumors at progression on abiraterone. | 26537258 | 2015 | |||||
Neoplasm Metastasis
|
0.010 | 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 |