Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

PURPOSE: To characterize the spectrum of BRCA1 and BRCA2 pathogenic germline variants in women from south-west Poland and west Ukraine affected with breast or ovarian cancer. Testing in women at high risk of breast and ovarian cancer in these regions is currently mainly limited to founder mutations....

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Vydáno v:Genet Res (Camb)
Hlavní autoři: Nguyen-Dumont, Tu, Karpinski, Pawel, Sasiadek, Maria M., Akopyan, Hayane, Steen, Jason A., Theys, Derrick, Hammet, Fleur, Tsimiklis, Helen, Park, Daniel J., Pope, Bernard J., Slezak, Ryszard, Stembalska, Agnieszka, Pesz, Karolina, Kitsera, Nataliya, Siekierzynska, Aleksandra, Southey, Melissa C., Myszka, Aleksander
Médium: Artigo
Jazyk:Inglês
Vydáno: Cambridge University Press 2020
Témata:
Research Paper
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7443769/
https://ncbi.nlm.nih.gov/pubmed/32772980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672320000075
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