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: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 GeneticVariation disease BEFREE Male BC is almost exclusively hormone receptor positive (+), including the androgen receptor (AR), and is associated with an increased prevalence of BRCA2 germline mutations, especially in men with increased risk for developing high-risk BC. 30267249 2019
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 Biomarker disease BEFREE Durable Response of Androgen Receptor-Positive Male Breast Cancer to Goserelin. 30941241 2019
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 GeneticVariation disease BEFREE The aim of this study was to investigate the role of the X chromosome gain in the development of MBC and its relation with AR gene copy number and expression.The X chromosome status was assessed in 66 cases of male invasive and in situ duct breast carcinoma, in 34 cases of gynecomastia associated with cancer, and in 11 cases of tumor-free gynecomastia. 29802469 2018
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 AlteredExpression disease BEFREE Body mass index (P = .023) and DACH1 (P = .034) were correlated with MBC prognosis, whereas the expression of AR (P = .049), SIX1 (P = .048), surgery (P < .001), and chemotherapy (P = .001) were important for FBC in addition to already known factors: tumor size and location, TNM stage (lymph nodes and organ metastasis), radiotherapy, and ER and human epidermalgrowth factor receptor-2 (HER2) expression. 29478945 2018
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 AlteredExpression disease BEFREE Not only the estrogen receptor (ER), but also other steroid hormone receptors, including the androgen receptor (AR) and progesterone receptor (PgR) are expressed in MBC. 30577860 2018
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 Biomarker disease BEFREE A review of estrogen receptor/androgen receptor genomics in male breast cancer. 28062545 2017
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 Biomarker disease BEFREE Androgen receptor and antiandrogen therapy in male breast cancer. 26276719 2015
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 Biomarker disease BEFREE The presence of long CAG repeat sequence and AR-positive expression were associated with shorter survival of MBC patients (CAG repeat: P = 0.050 for 5y-OS; P = 0.035 for 5y-DFS AR status: P = 0.048 for 5y-OS; P = 0.029 for 5y-DFS, respectively). 23272232 2012
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 GeneticVariation disease BEFREE This study aimed to investigate for the first time the distribution of AR QT lengths among MBC patients in Egypt. 21505847 2011
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 Biomarker disease BEFREE Moreover, an analysis of genes correlated to steroid receptors and ERBB2 suggested a prominent role for the androgen receptor in MBC with a minor relevance for progesterone receptor and ERBB2, although, similarly to FBC, a genomic amplification could be observed. 20625818 2011
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 Biomarker disease BEFREE The clinical management of male breast carcinoma is considered, in particular the potential role of aromatase inhibitors and fulvestrant and targeting pathways involving prolactin and androgen receptor. 22017761 2011
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 GeneticVariation disease BEFREE Forty one male breast cancer samples were studied, including one sample from a man with spinal and bulbar muscular atrophy (SBMA), which is caused by an AR CAG repeat expansion. 15609126 2004
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 AlteredExpression disease BEFREE The BRCA2 mutations and AR expression in tumor tissue are independent adverse factors for MBC prognosis. 14555518 2003
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 GeneticVariation disease BEFREE Our data indicate that the AR gene does not substantially contribute to MBC predisposition. 12602915 2003
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 Biomarker disease BEFREE The entire coding region of the BRCA2 gene and two exons of the AR gene were analyzed for germ-line mutations to evaluate the association between BRCA2 and AR genes and male breast cancer in Poland. 11139248 2001
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 Biomarker disease BEFREE Some AR ZFR point mutations observed in patients with partial androgen insensitivity syndrome or male breast cancer impair the interaction of AR with SNURF and also render AR refractory to the transcription-activating effect of SNURF. 10617653 2000
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 GeneticVariation disease BEFREE Arg607-Gln and Arg608-Lys point mutations in the DNA-binding domain of the AR gene have been associated with male breast cancer in partial androgen insensitivity syndrome. 10221692 1999
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 AlteredExpression disease BEFREE Androgen receptor expression in male breast carcinoma: lack of clinicopathological association. 10070897 1999
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 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: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 GeneticVariation disease BEFREE Functional and structural analysis of R607Q and R608K androgen receptor substitutions associated with male breast cancer. 9220020 1997
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 GeneticVariation disease BEFREE The role of androgen receptor gene mutations in male breast carcinoma. 8784104 1996
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 GeneticVariation disease BEFREE Moreover, androgen receptor gene alterations have been recently described in two unrelated diseases: male breast cancer and spinal and bulbar muscular atrophy. 7920176 1994
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 GeneticVariation disease BEFREE To our knowledge, only one germline Arg to Gln androgen receptor gene mutation has been previously reported at position 607 in male breast cancer. 8281139 1993
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 Biomarker disease CTD_human This androgen receptor mutation along with the Arg608 into Lys mutation we describe, suggests that this genetic abnormality is not fortuitous: a decrease in androgen action within the breast cells could account for the development of male breast cancer by the loss of a protective effect of androgens on these cells. 8281139 1993
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.400 Biomarker disease CTD_human A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. 1303262 1992