Article
BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.
PloS one - 1 Jan 2018
Kowalik Artur, Siołek Monika, Kopczyński Janusz, Krawiec Kamila, Kalisz Joanna, Zięba Sebastian, Kozak-Klonowska Beata, Wypiórkiewicz Elżbieta, Furmańczyk Jowita, Nowak-Ozimek Ewelina, Chłopek Małgorzata, Macek Paweł, Smok-Kalwat Jolanta, Góźdź Stanisław
Abstract excerpt
Hereditary mutations in BRCA1/2 genes increase the risk of breast cancer by 60-80% and ovarian cancer by about 20-40% in female carriers. Detection of inherited mutations in asymptomatic carriers allows for the implementation of appropriate preventive measures. BRCA1/2 genotyping is also important for poly(adenosine diphosphate)-ribose polymerase (PARP) inhibitor administration. This work addresses the need for...
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