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

Autor:	Nguyen-Dumont T; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Australia.; Department of Clinical Pathology, The University of Melbourne, Melbourne, Australia., Karpinski P; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Sasiadek MM; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Akopyan H; Institute of Hereditary Pathology of National Academy of Medical Sciences, Lviv, Ukraine.; Institute of Medical Sciences, University of Rzeszow, Rzeszow, Poland., Steen JA; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Australia., Theys D; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Australia., Hammet F; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Australia.; Department of Clinical Pathology, The University of Melbourne, Melbourne, Australia., Tsimiklis H; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Australia.; Department of Clinical Pathology, The University of Melbourne, Melbourne, Australia., Park DJ; Department of Clinical Pathology, The University of Melbourne, Melbourne, Australia.; Melbourne Bioinformatics, The University of Melbourne, Melbourne, Australia., Pope BJ; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Australia.; Melbourne Bioinformatics, The University of Melbourne, Melbourne, Australia.; Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Melbourne, Australia., Slezak R; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Stembalska A; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Pesz K; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Kitsera N; Institute of Hereditary Pathology of National Academy of Medical Sciences, Lviv, Ukraine., Siekierzynska A; Department of Biotechnology and Plant Physiology, University of Rzeszow, Rzeszow, Poland., Southey MC; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Australia.; Department of Clinical Pathology, The University of Melbourne, Melbourne, Australia.; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC 3004, Australia., Myszka A; Institute of Medical Sciences, University of Rzeszow, Rzeszow, Poland.
Jazyk:	angličtina
Zdroj:	Genetics research [Genet Res (Camb)] 2020 Aug 10; Vol. 102, pp. e6. Date of Electronic Publication: 2020 Aug 10.
DOI:	10.1017/S0016672320000075
Abstrakt:	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 germline DNA of 426 women in total. Results: We identified 31 and 18 women as carriers of pathogenic/likely pathogenic (P/LP) genetic variants in BRCA1 and BRCA2, respectively. We observed five BRCA1 and eight BRCA2 P/LP variants (13/337, 3.9%) in the Polish women. Combined with the 34/337 (10.1%) founder variants identified prior to this study, the overall P/LP variant frequency in the Polish women was thus 14% (47/337). Among the Ukrainian women, 16/123 (13%) women were identified as carrying a founder mutation and 20/123 (16.3%) were found to carry non-founder P/LP variants (10 in BRCA1 and 10 in BRCA2). Conclusions: These results indicate that genetic testing in women at high risk of breast and ovarian cancer in Poland and Ukraine should not be limited to founder mutations. Extended testing will enhance risk stratification and management for these women and their families.
Databáze:	MEDLINE
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