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Correspondence
Transmission of mutant alleles to female offspring of BRCA1 carriers in Poland
  1. J Gronwald1,
  2. T Byrski1,
  3. T Huzarski1,
  4. S A Narod2,
  5. J Lubinski3
  1. 1International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical Academy, Szczecin, Poland
  2. 2Centre for Research in Women’s Health, Sunnybrook and Women’s College Health Sciences Center, University of Toronto, Toronto, Ontario, Canada
  3. 3International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical Academy, Szczecin, Poland
  1. Correspondence to:
 Jacek Gronwald
 International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical Academy, Ul. Polabska 4, 70-115 Szczecin, Poland; jgronuoo.univ.szczecin.pl

https://doi.org/10.1136/jmg.2005.031492

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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 …

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    • Competing interests: none declared