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Background  Mutations in the high penetrance breast and ovarian cancer susceptibility gene  BRCA1  account for a significant percentage of hereditary breast and ovarian cancer cases. Genotype-phenotype correlations of  BRCA1  mutations located in different parts of the  BRCA1  gene have been described previously; however, phenotypic differences of specific  BRCA1  mutations have not yet been fully investigated. In our study, based on the analysis of a population-based series of unselected breast and ovarian cancer cases in Latvia, we show some aspects of the genotype-phenotype correlation among the  BRCA1  c.4034delA (4153delA) and c.5266dupC (5382insC) founder mutation carriers.    Methods  We investigated the prevalence of the  BRCA1  founder mutations c.4034delA and c.5266dupC in a population-based series of unselected breast (n = 2546) and ovarian (n = 795) cancer cases. Among the  BRCA1  mutation carriers identified in this analysis we compared the overall survival, age at diagnosis and family histories of breast and ovarian cancers.    Results  We have found that the prevalence of breast and ovarian cancer cases (breast: ovarian cancer ratio) differs significantly among the carriers of the c.5266dupC and c.4034delA founder mutations (OR = 2.98, 95%CI = 1.58 to 5.62, P < 0.001). We have also found a difference in the prevalence of breast and ovarian cancer cases among the 1 st  and 2 nd  degree relatives of the c.4034delA and c.5266dupC mutation carriers. In addition, among the breast cancer cases the c.4034delA mutation has been associated with a later age of onset and worse clinical outcomes in comparison with the c.5266dupC mutation.    Conclusions  Our data suggest that the carriers of the c.4034delA and c.5266dupC founder mutations have different risks of breast and ovarian cancer development, different age of onset and prognosis of breast cancer.

Genotype-phenotype correlations among BRCA14153delA and 5382insC mutation carriers from Latvia