| Summary: | <p>Abstract</p> <p>Background</p> <p>Inheritance of a mutation in either <it>BRCA1 </it>or <it>BRCA2 </it>accounts for approximately 5% of all breast cancer cases, but varies by country. Investigations into the contribution of <it>BRCA </it>mutations to breast cancer incidence in Greece have been, for the most part, limited by small sample sizes and by the use of cases selected for their family history of cancer. The aim of the current study was to estimate <it>BRCA </it>mutation frequencies in breast cancer patients unselected for family history.</p> <p>Methods</p> <p>To do so, we enrolled 127 unselected women with breast cancer from the Alexandra Hospital in Athens, Greece, a large public hospital in the city. Mutations in <it>BRCA1 </it>and <it>BRCA2 </it>were detected using a combination of techniques and were confirmed by direct sequencing. Two large genomic deletions were sought using mutation-specific assays. A detailed family history of cancer was obtained from each patient.</p> <p>Results</p> <p>We were able to successfully complete testing on samples from 127 women. Among these, six mutations were identified (four in <it>BRCA1 </it>and two in <it>BRCA2</it>) representing 4.7% of the total or 9.5% of cases diagnosed before age forty. None of the mutation carriers had a family history of breast or ovarian cancer. Three of the four <it>BRCA1 </it>mutations were in exon 20: two were a G5331A mutation and the third was a 3.2 kb deletion. The fourth <it>BRCA1 </it>mutation was the 3819delGTAAA in exon 11. The two <it>BRCA2 </it>mutations were in exon 11 (3782del10 and 4512insT).</p> <p>Conclusions</p> <p>The G5331A mutation in <it>BRCA1 </it>appears to be a founder mutation in the Greek population.</p>
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