THE ROLE OF ANDROGEN RECEPTOR GENE-MUTATIONS IN MALE BREAST-CARCINOMA

Certain germline mutations (607Arg-Gln, 608Arg-Lys) in the androgen re ceptor gene have been associated with the Occurrence of breast cancer in males suffering from partial androgen insensitivity. To assess whet her somatic mutations in this gene could be detected in breast carcino ma, archival tumor tissue Of males without clinical evidence of androg en insensitivity was screened for point mutations in the androgen rece ptor gene. DNA was retrieved by chloroform-phenol extraction from form alin-fixed, paraffin-embedded tissues. Exons 2-8 of the androgen recep tor gene, encoding the DNA- and hormone-binding regions of the recepto r, were amplified by polymerase chain reaction and subjected to noniso topic single strand conformation assay (SSCA) to screen for point muta tions. In the tumor DNA, no variations suggestive of mutations were en countered on SSCA. However, in a control patient with partial androgen insensitivity and predominantly female phenotype, the germline mutati on 607Arg-Gln was identified in blood leukocyte DNA. Our results indic ate that somatic mutations of the androgen receptor are not required f or the development of male breast cancer. This, however, does not excl ude an increased risk of breast carcinoma in patients with androgen in sensitivity.