Article
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?
Genetics research - 10 Aug 2020
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
Abstract excerpt
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. METHODS: Unrelated women affected with breast and/or ovarian cancer from Poland (n = 337) and Ukraine (n = 123)...
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