Journal article
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?
T Nguyen-Dumont, P Karpinski, MM Sasiadek, H Akopyan, JA Steen, D Theys, F Hammet, H Tsimiklis, DJ Park, BJ Pope, R Slezak, A Stembalska, K Pesz, N Kitsera, A Siekierzynska, MC Southey, A Myszka
Genetics Research | HINDAWI LTD | Published : 2020
Abstract
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) were screened by targeted sequencing. Excluded from targeted sequencing were 34 Polish women who had previously been identified as carrying a founder mutation in BRCA1. No prior testing had been conducted among the Ukrainian women. Thus, this study screened BRCA1 and BRCA2 in the germli..
View full abstractGrants
Awarded by Australian National Health and Medical Research Council
Awarded by Victorian Life Sciences Computation Initiative grant on its Peak Computing Facility, an initiative of the Victorian Government
Awarded by National Breast Cancer Foundation (Australia)
Awarded by 'UR - modernity and future of region' from the European Social Fund, Human Capital, National Cohesion Strategy
Funding Acknowledgements
This work was supported by the Australian National Health and Medical Research Council (APP1029974 and APP1074383) and by a Victorian Life Sciences Computation Initiative grant (number VR0182) on its Peak Computing Facility, an initiative of the Victorian Government. TN-D is a Career Development Fellow of the National Breast Cancer Foundation (Australia, ECF-17-001). BJP is the recipient of a Victorian Health and Medical Research Fellowship (Australia). MCS is a National Health and Medical Research Council (Australia) Senior Research Fellow. AM was supported by a Research Fellowship within 'UR - modernity and future of region' from the European Social Fund, Human Capital, National Cohesion Strategy (contract no. UDA-POKL.04.01.01-00-068/10-00).