Clinical and pathological characteristics in patients with BRCA1/2-mutation associated with breast cancer (BC) with a long clinical follow-up

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It is not known if the behaviour of hereditary breast cancer (HBC) differs from that of sporadic BC. We analysed clinico-pathological characteristics in 17 patients with BRCA1/2 germline mutations associated with BC. These data could be useful in the management of HBC. All patients except 4 had a family history of BC or ovarian cancer (OC). Mutation detection methods were SSCP and PTT (exon 11 for BRCA1, exons 10 and 11 for BRCA2) and final direct sequencing. The BRCA1 mutations found were: exon 2 185delAG, exon 2 189insTGTC, exon 5 330A-G, exon 11 1241delAC, exon 18 5263G-A, exon 23 5537delA, and exon 24 5625G-T. The mutations in BRCA2 were: exon 11 3374delA, 6076del4bp, 6857delAA, and exon 23 9254del5bp. At diagnosis the mean age was 37 years (28-53). Only 3/17 patients presented with involvement of axillary nodes; no patient was diagnosed with metastatic disease. All cases presented infiltrating ductal carcinoma; two of them were medullar carcinoma. Histological grade was available in 13/17 cases, with grade III being the most frequent (12/13). Hormonal receptors were negative in 8/10 patients. The mean follow-up is 129 months (24-224). There were three local recurrences at 17, 108 and 151 months; and two distant relapses at 15 months (complete remission) and at 92 months. Three contralateral BC were diagnosed. HBC has malignant pathological features, but the clinical behaviour seems not to be more aggressive than the sporadic BC in the same age group.