Increased frequency of long androgen receptor CAG repeats in male breast cancers

• Published in: Breast cancer research and treatment 2004-12, Vol.88 (3), p.239-246
• Main Authors: MACLEAN, Helen E, BROWN, Robert W, BEILIN, Jonathan, WARNE, Garry L, ZAJAC, Jeffrey D
• Format: Article
• Language: English
• Subjects: Adult; Aged; Aged, 80 and over; Androgen-Insensitivity Syndrome - complications; Androgen-Insensitivity Syndrome - genetics; Androgens; Biological and medical sciences; Breast cancer; Breast Neoplasms, Male - complications; Breast Neoplasms, Male - genetics; Cancer research; Cancer therapies; Carcinoma, Ductal, Breast - complications; Carcinoma, Ductal, Breast - genetics; Genetics; Gynecology. Andrology. Obstetrics; Humans; Male; Males; Mammary gland diseases; Medical sciences; Middle Aged; Mutation; Receptors, Androgen - genetics; Trinucleotide Repeats - genetics; Tumors
• ISSN: 0167-6806; 1573-7217
• DOI: 10.1007/s10549-004-0781-6

We have investigated the possible link between androgen hyposensitivity caused by long androgen receptor (AR) CAG repeats, and breast carcinogenesis, in men. AR gene mutations have been described in men with androgen insensitivity syndrome and breast carcinoma, and some studies have shown long CAG repeats are associated with increased risk of breast cancer in women. DNA was isolated from male breast cancer biopsies, and the AR CAG repeat sized. 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. The man with breast cancer and SBMA had 49 CAG repeats (normal range 6-35), but all other breast cancer samples had repeats within the normal range. The frequency of CAG repeats > or =24 was significantly higher in the breast cancer group (excluding the SBMA subject) than in the normal population (p