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Recurrent mutations of BRCA1 and BRCA2 in Poland: an update

2014; Wiley; Volume: 87; Issue: 3 Linguagem: Inglês

10.1111/cge.12360

1399-0004

Marek Szwiec, Anna Jakubowska, Bohdan Górski, Tomasz Huzarski, Joanna Tomiczek‐Szwiec, Jacek Gronwald, Tadeusz Dębniak, Tomasz Byrski, Wojtek Kluźniak, Dominika Wokołorczyk, Bożena Birkenfeld, Mohammad R. Akbari, Steven A. Narod, Jan Lubiński, Cezary Cybulski,

Genomic variations and chromosomal abnormalities

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 were genotyped for 12 recurrent mutations of BRCA1 and BRCA2. We identified a mutation in 83 of 1164 patients (7.1%) including 61 women with one of the original three mutations (C61G, 4153delA, 5382insC) and 22 women with a different mutation (1.9%). Three new mutations (3819del5, 185delAG and 5370C>T) were seen in multiple families. By including these three mutations in the extended panel, the mutant frequency increased from 5.2 to 6.7%. Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of six founder mutations of BRCA1 (C61G, 4153delA, 5382insC, 3819del5, 185delAG and 5370C>T).