Germline BRCA2 and somatic P53alterations in male breast cancer

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Cancer of the male breast is infrequent, accounting for less than 1% of all breast cancer cases in the Western world. Hungary is leading in the mortality rate for this disease in continental Europe. In our recent report [1] a high frequency (33%) of germline BRCA2 mutations was detected among Hungarian male breast cancer cases without family history. In the current study our aim was to extend these preliminary data on BRCA2 germline alterations and determine additional somatic genetic changes in both BRCA2 carrier and non-carrier male breast cancers. P53 expression was studied in samples of 32 male breast cancer patients by immunohistochemical analysis using DO-7 and BP-53 antibodies. Unexpectedly, no sample showed overexpression of the P53 protein by either of the antibodies used in our series. To determine whether lack of overexpression was due to absence of mutations in p53, we carried out mutation analysis of the gene using SSCP and direct sequencing of the variants. Updated results of this analysis will be presented.