BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study

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 f...

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Vydáno v:	PloS one Ročník 13; číslo 7; s. e0201086
Hlavní autoři:	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
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States Public Library of Science 24.07.2018 Public Library of Science (PLoS)
Témata:	Adenosine Adenosine diphosphate Benign Biology and Life Sciences BRCA mutations BRCA1 protein Breast cancer Cancer Carriers DNA sequencing Exons Gene sequencing Genetic aspects Genetic counseling Genetic screening Genomics Genotyping Health aspects Health risks Medical diagnosis Medicine and Health Sciences Mutation Ovarian cancer Ovarian carcinoma Patients Pedigree Poles (European people) Poly(ADP-ribose) polymerase Population studies Ribose Poland
ISSN:	1932-6203, 1932-6203
On-line přístup:	Získat plný text
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