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Three founder mutations in BRCA1 are common in Poland (5382insC, C61G, and 4153delA).1 At birth, it is expected that 50% of the children of a parent who carries a BRCA1 mutation will inherit a mutant allele. However, in a recent paper we observed a greater than expected frequency of mutation carriers among daughters (but not among sons) of women with BRCA1 mutations in Poland. We observed 75 carrier daughters and 47 non-carrier daughters of 122 carrier mothers (transmission ratio 61.5%; p = 0.01 for difference).2 Recently, de la Hoya et al have undertaken a similar study in a Spanish and Dutch cohort and have also observed a higher ratio of carrier daughters (58% in those <30 years of age).3 …
Competing interests: none declared