Abstract

9655 Background: germ-line mutations of BRCA2 are associated with an increased risk of male breast cancer and with a family history of female breast and/or ovarian cancer. Methods: through the data of Parma Cancer Registry, we collected all cases of male breast cancer from January 1st, 1978 to December 31st, 2000. Of these, we reviewed family history, clinical and pathological records. DNA samples were obtained from 19 patients and BRCA2 mutational analysis is ongoing. Results: total number of incident cases was 54. Male to female ratio for breast cancer incidence was 1:117 in Parma during this period. Mean age of the male breast cancer incident cases was 67, (range 32–87). The average number of incident cases and the average crude incidence rate increased from 1.6 and 0.93, respectively (1978–82) to 3.0 and 1.57 (1998–2000), and similarly, the age standardized rate changed from 0.49 to 0.74. The relative 5 year survival rate shows an improvement from 68% (1978–81) to 93% (1990–94). Thirty three were ductal infiltrating carcinomas, 2 lobular, 1 mucoid, 2 papillary, 1 cribriform, 1 tubular, 8 NOS, 3 adenocarcinomas, 2 papillary adenocarcinomas and 1 was without microscopic confirmation. Interestingly, lobular histology was seen only in two cases of hyper-estrogenism (one case for drug exposure and the other for liver cirrhosis). No cases of Klinefelter's syndrome were observed. The distribution by stage, which is available for 37 patients is as follows: 9 stage I, 14 stage II, 14 stage III, 0 stage IV. With regard to the 19 patients screened for germ line BRCA2 mutations, 6/19 (31%) and 2/19 (10%) patients had a family history of breast cancer and ovarian cancer, respectively. Estro-Progestinic receptor status was positive in 14 (73%) cases and HER-2/neu immunostaining was positive in 5 out of the 12 (41%) evaluated samples. Conclusion: Our results are preliminary and need to be completed with data obtained by BRCA2 direct sequencing. Our future purpose is to address the question of the contribution of BRCA2 germ line mutation to the phenotype of these tumors. No significant financial relationships to disclose.

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