AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease UNIPROT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. 1303262 1992
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 AlteredExpression disease BEFREE Regulation of androgen receptor mRNA and protein level by steroid hormones in human mammary cancer cells. 1472451 1992
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 Biomarker disease BEFREE Medroxyprogesterone acetate (MPA), a compound frequently used in the treatment of breast cancer in women, exerts its main inhibitory action through an androgen receptor-mediated action, whereas its glucocorticoid-like activity could play an additional role at high concentrations. 2142871 1990
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE In more recent years, however, mutations in the AR gene have been described in a number of diverse clinical conditions, from male infertility to prostate and breast cancer through to a form of motor neurone disease (Kennedy's disease). 7489816 1995
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 Biomarker disease BEFREE For example, metabolites of DHT with oestrogenic activity, or androgen binding to receptors other than the AR, may explain the divergent responses to androgens observed in different breast cancer cell lines. 7748811 1995
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 AlteredExpression disease BEFREE Furthermore, the level of AR staining in PC-3AR+ cells was higher than in the androgen-responsive breast cancer cell lines ZR-75-1, T47-D, and MCF-7. 7792809 1995
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE Our group have identified 16 androgen receptor gene alterations in patients with androgen insensitivity syndrome, an amino acid substitution in a patient with a partial androgen insensitivity syndrome and a breast cancer. 7920176 1994
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 AlteredExpression disease BEFREE In summary, MDA-MB-453 cells express high levels of functional AR, and thus provide a valuable in vitro model for further studies on androgen regulation of gene expression, and perhaps cell proliferation in breast cancer. 8018407 1994
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE We screened thirteen male breast cancers for the presence of germline mutations in exons 2 and 3 encoding the DNA-binding domain of the androgen receptor. 8281139 1993
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE At least two other genes, P53 and the androgen receptor, are responsible for inherited predisposition to breast cancer in rare families. 8541881 1995
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE The TP53 gene is involved in breast cancer development in the Li-Fraumeni syndrome and Li-Fraumeni syndrom-like families, whereas germ-line mutations in the androgen receptor (AR) gene is present in a subset of male breast cancers. 8695152 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE Certain germline mutations (607Arg-Gln, 608Arg-Lys) in the androgen receptor gene have been associated with the occurrence of breast cancer in males suffering from partial androgen insensitivity. 8784104 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE Other genes that have been associated with breast cancer risk are the androgen receptor (AR) gene and the ataxia teleangiectasia (AT) gene. 8880869 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 Biomarker disease BEFREE To test this hypothesis, a full human androgen receptor (AR) vector was transfected into human breast cancer MCF7 cells. 9075695 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 AlteredExpression disease BEFREE We thus report an exon deletion splice variant of AR mRNA in breast cancer. 9259393 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE Two heritable gene defects have been associated with a predisposition to male breast cancer development, ie., germ-line mutations in the breast cancer susceptibility gene BRCA2 and the androgen receptor (AR) gene. 9537231 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 Biomarker disease BEFREE The present data indicate that androgens can down-regulate bcl-2 protooncogene levels via an androgen receptor-mediated mechanism, thus providing a novel mechanism for their known inhibitory effect on breast cancer cell growth. 9886853 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE We found that women were at significantly increased risk of breast cancer if they carried at least one AR allele with >/=28 CAG repeats. 10205268 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE We found no evidence for an association between AR exon 1 CAGn length and breast cancer risk in women under the age of 40, despite having 80% power to detect modest effects. 10359549 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 Biomarker disease BEFREE These findings indicate that MPA is an AR agonist and suggest that the in vivo effects of MPA in breast cancer patients may in part be mediated by the AR. 10509795 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE None of the AR or VDR polymorphisms investigated has a major effect on risk of breast cancer in the British population. 10545416 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 Biomarker disease BEFREE Although CAIS is the best known phenotype, recent studies from our laboratory and elsewhere show that malfunction of the AR is associated with many androgen-regulated diseases or conditions that cross traditional clinical disciplines ranging from paediatrics (ambiguous genitalia), gynaecology (primary amenorrhoea), urology (prostate cancer), neurology (spinal bulbar muscular atrophy), reproductive medicine (male infertility), orthopedics (rheumatoid arthritis), oncology (breast cancer) and dermatology (hirsutism, baldness and acne). 10711573 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GeneticVariation disease BEFREE The androgen receptor exon 1 trinucleotide repeat does not act as a modifier of the age of presentation in breast cancer. 10717532 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 Biomarker disease BEFREE Although AR is expressed in breast cancer and the impact of androgen and AR on breast cancer has been recognized, the role of the CAG repeats in breast cancer remains unknown. 10817350 2000