Article
Recurrent mutations of BRCA1 and BRCA2 in Poland: an update.
Clinical genetics - 1 Mar 2015
Szwiec M, Jakubowska A, Górski B, Huzarski T, Tomiczek-Szwiec J, Gronwald J, Dębniak T, Byrski T, Kluźniak W, Wokołorczyk D, Birkenfeld B, Akbari M R, Narod S A, Lubiński J, Cybulski C
Abstract excerpt
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...
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