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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.
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.
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).
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.
Defects in the system controlling the cell cycle can lead to an increased proliferation of cancer cells. The aim of this study was to analyse the immunohistochemical expression of chosen cell cycle proteins (P16, cyclin D1 and retinoblastoma protein) and their connection with the clinical course of the disease in laryngeal squamous cell cancer (LSCC). Cancer tissue sections obtained from 58 patients after total laryngectomy served to determine the level of the proteins’ expression using immunohistochemical staining and commercial antibodies. A decreased level of P16 expression in 47 per cent, of retinoblastoma protein in 12 per cent and strong cyclin D1 expression in 48 per cent of cases was revealed. Our results show significant correlation between decreased P16 expression and increased tumour dedifferentiation. Overexpression of cyclin D1 was statistically more common in locally advanced tumours (T3–T4). Low expression of retinoblastoma protein was significantly correlated with both positive P16 immunostaining and with strong cyclin D1 expression. Our study confirms that dysfunction of cell cycle regulation is a common event and may play a significant role in the development of squamous cell carcinoma of the larynx.
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