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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發表在:Genet Res (Camb)
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Cambridge University Press 2020
主題:
Research Paper
在線閱讀: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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