Recurrent mutations of BRCA1 and BRCA2 in Poland: an update.

@article{Szwiec2015RecurrentMO,
  title={Recurrent mutations of BRCA1 and BRCA2 in Poland: an update.},
  author={Marek Szwiec and Ania Jakubowska and Bohdan G{\'o}rski and Tomasz Huzarski and Joanna Tomiczek-Szwiec and Jacek Gronwald and Tadeusz Dębniak and Tomasz Byrski and Wojciech Kluźniak and Dominika Wokołorczyk and Bozena Birkenfeld and Mohammad R. Akbari and S. A. Narod and Jan Lubiński and Cezary Cybulski},
  journal={Clinical genetics},
  year={2015},
  volume={87 3},
  pages={
          288-92
        }
}
Three founder alleles of BRCA1 (C61G, 4153delA, 5382insC) were reported in Poland in 2000, and these three mutations have comprised the standard testing panel used throughout the country. However, since 2000, other recurrent mutations of BRCA1 and BRCA2 have been reported. To establish if the inclusion of one or more of these mutations will increase the sensitivity of the standard test panel, we studied 1164 Polish women with unselected breast cancer diagnosed at age of 50 or below. All women… CONTINUE READING

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