The role of AR polyQ tract in male breast carcinoma: lesson from an SBMA case

<span class="paragraphSection">Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease (KD), is a rare, X-linked neuromuscular disease affecting adult male patients. It is characterized by lower motor neuron degeneration, leading to slow progressive limb weakness and bulbar symptoms. The disease is caused by an over-38 CAG triplet expansion encoding a polyQ tract in the androgen receptor (<span style="font-style:italic;">AR</span>) gene [<a href="#mdx038-B1" class="reflinks">1</a>]. The expanded polyQ tract confers a cytotoxic function to the AR, underlying the neuromuscular phenotype, or a loss of its physiological function, mainly manifesting as partial androgen resistance. Male breast carcinoma (MBC) is an uncommon disease, accounting for less than 1% of all cases of breast carcinoma [<a href="#mdx038-B2" class="reflinks">2</a>]. Although the role of androgens in MBC pathogenesis is poorly understood, the expression of AR by breast cancers seems to act as a protective mechanism [<a href="#mdx038-B3" class="reflinks">3</a>].</span>

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