Abstract

BackgroundThe androgen receptor (AR) expression and the CAG repeat length within the AR gene appear to be involved in the carcinogenesis of male breast carcinoma (MBC). Although phenotypic differences have been observed between MBC and normal control group in AR gene, there is lack of correlation analysis between AR expression and CAG repeat length in MBC. The purpose of the study was to investigate the prognostic value of CAG repeat lengths and AR protein expression.Methods81 tumor tissues were used for immunostaining for AR expression and CAG repeat length determination and 80 normal controls were analyzed with CAG repeat length in AR gene. The CAG repeat length and AR expression were analyzed in relation to clinicopathological factors and prognostic indicators.ResultsAR gene in many MBCs has long CAG repeat sequence compared with that in control group (P = 0.001) and controls are more likely to exhibit short CAG repeat sequence than MBCs. There was statistically significant difference in long CAG repeat sequence between AR status for MBC patients (P = 0.004). 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).ConclusionThe CAG repeat length within the AR gene might be one useful molecular biomarker to identify males at increased risk of breast cancer development. The presence of long CAG repeat sequence and AR protein expression were in relation to survival of MBC patients. The CAG repeat length and AR expression were two independent prognostic indicators in MBC patients.

Highlights

  • Male breast carcinoma (MBC) is an uncommon disease, accounting for less than 1% of all cases of breast carcinoma

  • The aims of the present study were to: (a) investigate whether increased length of the CAG repeat sequence in the androgen receptor (AR) gene is associated with the development of male breast carcinoma (MBC). (b) compare CAG repeat lengths with clinicopathological features and hormone receptor expression; (c) evaluate prognostic significance of AR (CAG)n repeats length and AR expression; and (d) present a new opinion of endocrine therapy for MBC patients

  • The lengths of the PCR products obtained varied between 206 bp and 278 bp

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Summary

Introduction

Male breast carcinoma (MBC) is an uncommon disease, accounting for less than 1% of all cases of breast carcinoma. Like dihydrotestosterone, restrain tissue growth in the breast thereby exerting anti-mitogenic effects [1]. The androgen receptor (AR) activity modulates breast tissue growth inhibition. Less is known about AR genetic influences and AR protein expression in MBC carcinogenesis. A region within exon 1 of the gene coding for the AR (located on chromosome Xq11-12) is highly polymorphic three nucleotides repeat and contains a variable number of CAG repeats. The androgen receptor (AR) expression and the CAG repeat length within the AR gene appear to be involved in the carcinogenesis of male breast carcinoma (MBC). Phenotypic differences have been observed between MBC and normal control group in AR gene, there is lack of correlation analysis between AR expression and CAG repeat length in MBC. The purpose of the study was to investigate the prognostic value of CAG repeat lengths and AR protein expression

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