Aim: To assess the expression of receptors for androgen (AR), oestrogen (ER) and progesterone (PR) as well as human epidermal growth factor receptor type 2 (Her-2/neu) status of breast carcinomas in breast cancer susceptibility gene (BRCA) BRCA1/2 mutation carriers and BRCA1/2 negative tested women.
Methods: One hundred and thirty-five breast cancers in women tested for BRCA1/2 mutations. Screening for BRCA1 and BRCA2 mutations was performed by direct sequencing of all BRCA1 and BRCA2 exons as well as the surrounding intronic sequences. Additionally, BRCA genes were analysed with multiplex ligation-dependent probe amplification. Consecutive paraffin sections were examined immunohistochemically for AR, ER, PR and Her-2/neu.
Results: Of the 135 tumours, 43 (32%) were BRCA1-related, 18 (13%) were BRCA2-related and 74 (55%) were BRCA1/2-negative. Seventy-two per cent of the BRCA1-related, 22% of the BRCA2-related and 12% of the BRCA1/2-negative tumours were triple (ER, PR, Her2neu)-negative. Eighty-four per cent of BRCA1 mutated cancers were high-grade (G3) tumours. ARs were expressed in 30% (13 of 43) of BRCA1-related, in 78% (14 of 18) in BRCA2-related tumours and in 76% (56 of 74) in BRCA1/2 negative tumours. Twenty-one per cent of ER-negative BRCA1-related tumours expressed androgen receptors.
Conclusion: Approximately one in five BRCA1 mutated breast cancers negative for ER and PR express androgen receptors. Modulation of AR might open a new avenue for treating these high-risk cancers.
© 2010 Blackwell Publishing Limited.