BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study

Thorunn Rafnar, Kristrun R Benediktsdottir, Bjarki J Eldon, Thorgeir Gestsson, Hafsteinn Saemundsson, Karl Olafsson, Anna Salvarsdottir, Eirikur Steingrimsson, Steinunn Thorlacius
European Journal of Cancer 2004, 40 (18): 2788-93
A single founder mutation in each of the BRCA genes has been identified in Iceland. The frequency of the BRCA1 G5193A and BRCA2 999del5 mutations in all ovarian cancer patients diagnosed over the period 1991-2000 was determined. Mutation status was correlated with family history, tumour morphology and age at diagnosis. Samples from 86% of cases (179 carcinomas and 74 borderline tumours) were available. In the carcinomas, BRCA1 and BRCA2 mutations were present in 1.2% and 6% of cases, respectively. No BRCA mutations were found in the borderline tumours. Odds Ratio (OR) of developing ovarian cancer was 20.65 for BRCA2 carriers. Family history of breast/ovarian cancer was present for 70% of BRCA2 carriers and approximately 14% for non-carriers with carcinoma. In conclusion, BRCA2 999del5 is present in 6% of ovarian cancer cases in Iceland and is associated with a 20-fold increase in the risk of the disease. The BRCA1 G5193A mutation is too rare to contribute significantly to ovarian cancer in Iceland.

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