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Background  The  BRCA1  and  BRCA2  mutation spectrum and mutation detection rates according to different family histories were investigated in 521 subjects from 322 unrelated Slovenian cancer families with breast and/or ovarian cancer.    Methods  The  BRCA1  and  BRCA2  genes were screened using DGGE, PTT, HRM, MLPA and direct sequencing.    Results  Eighteen different mutations were found in  BRCA1  and 13 in  BRCA2  gene. Mutations in one or other gene were found in 96 unrelated families. The mutation detection rates were the highest in the families with at least one breast and at least one ovarian cancer - 42% for  BRCA1  and 8% for  BRCA2 . The mutation detection rate observed in the families with at least two breast cancers with disease onset before the age of 50 years and no ovarian cancer was 23% for  BRCA1  and 13% for  BRCA2 . The mutation detection rate in the families with at least two breast cancers and only one with the disease onset before the age of 50 years was 11% for  BRCA1  and 8% for  BRCA2 . In the families with at least two breast cancers, all of them with disease onset over the age of 50 years, the detection rate was 5% for  BRCA2  and 0% for  BRCA1 .    Conclusion  Among the mutations detected in Slovenian population, 5 mutations in  BRCA1  and 4 mutations in  BRCA2  have not been described in other populations until now. The most frequent mutations in our population were c.181T > G, c.1687C > T, c.5266dupC and c.844_850dupTCATTAC in  BRCA1  gene and c.7806-2A > G, c.5291C > G and c.3978insTGCT in  BRCA2  gene (detected in 69% of  BRCA1  and  BRCA2  positive families).

The occurrence of germline BRCA1 and BRCA2sequence alterations in Slovenian population