“BRCAPRO is a statistical model, with associated software, for assessing the probability that an individual carries a germline deleterious mutation of the BRCA1 and BRCA2 genes, based on family history of breast and ovarian cancer, including male breast cancer. Predictions of genetic predisposition to breast and ovarian cancer for 301 individuals were made using BRCAPRO, a statistical model and software using Mendelian genetics and Bayesian updating. Model predictions were compared with the results of genetic testing.

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The mean age at presentation was 57 years. Of the 146 patients, 48 had breast cancer, 18 had pancreatic cancer, 39 had prostate cancer, 27 had other primary cancers, and 37 had no cancer. Fifty patients (34%) tested positive for a BRCA mutation (22 BRCA1, 27 BRCA2, and 1 BRCA1 and BRCA2). The mean BRCAPRO score for all patients was 24.96%. The BRCAPRO score was significantly higher for patients who tested positive for a BRCA mutation (46.19% vs. Implications for Practice: Men carrying genetic mutations in the BRCA gene have a greater risk than the general population of developing certain types of cancer, including breast, pancreatic, and prostate cancer. BRCAPRO is a risk assessment model that predicts the risk of carrying a BRCA mutation.

The present study aimed at validating BRCAPRO for use with men seen for genetic counseling, whether affected by cancer or not. The data available for 146 patients revealed that BRCAPRO was effective at identifying patients at risk of BRCA mutation. These findings could help in identifying a subset of high-risk patients who should proceed to genetic testing. Introduction Hereditary breast and ovarian cancer is attributed to a mutation in either the BRCA1 or BRCA2 gene and is linked in an autosomal dominant manner.

Men with mutations in BRCA2 have a greater risk of breast cancer than BRCA1 mutation carriers, and both have a greater risk than the general population []. The BRCA mutations carry an increased risk of other malignancies in men, including prostate and pancreatic cancer []. Therefore, identifying male carriers of a BRCA mutations is important for the prevention and early detection of these malignancies. Male breast cancer is rare, accounting for less than 1% of male cancers. The rate of BRCA mutations in male breast cancer patients has been estimated to be 4%–40%. Among men with a BRCA mutation, the lifetime risk of breast cancer is approximately 8% for those with BRCA2 mutations and 2% for those with BRCA1 mutations [–]. The symptoms at diagnosis include a painless lump, nipple retraction, and/or nipple bleeding [–].

Compared with women with breast cancer, male breast cancer is usually diagnosed at a mean age of 67 years versus 62 years in women, at a more advanced stage, and a greater tumor size with lymph node involvement. The pathologic type is most often invasive ductal carcinoma and hormone receptor-positive (estrogen receptor-positive 80%–90%, progesterone receptor-positive 73%–81%) []. The reports of HER-2/neu positivity have been inconsistent, with it initially reported as equivalent to that of female breast cancer but more recently reported at 5%–15% in different studies [, ].

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Although the risks for male breast cancer differ, the treatment usually follows guidelines similar to those for women with breast cancer. The risk factors for the development of male breast cancer include, not only BRCA mutations, but also mutations in PTEN and CHEK2, obesity, chest wall radiation, Klinefelter syndrome, gynecomastia, and a positive family history. The increase in risk for men who have female relatives with breast cancer is a 2.5-fold [–,, ].

Treatment of male breast cancer usually follows the guidelines for female breast cancer. Small studies have shown a similar benefit for the use of surgery, chemotherapy, and tamoxifen in men with breast cancer [, ]. Similarly, the tumor size and lymph node status were found to be independent predictors of overall survival []. Limited data are available for radiation therapy and aromatase inhibitor use. A single-institution study showed 5-year survival estimates for male patients with node-positive and node-negative breast cancer of 68.5% and 87.5%, respectively []. Genetic counseling was historically recommended for patients whose pretest probability exceeded 10% [].