ORCID Profile
0000-0001-9420-6461
Current Organisation
Babol Noshirvani University of Technology
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Publisher: MDPI AG
Date: 26-01-2020
Abstract: Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2–4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln1701* PTV is the most common PTV in Northern Europe with a maximum frequency in Finland and a lower relative frequency in Southern Europe. On the contrary, p.Arg1931* seems to be the most common PTV in Southern Europe. We also showed that p.Arg658*, the third most common PTV, is more frequent in Central Europe, and p.Gln498Thrfs*7 is probably a founder variant from Lithuania. Of the 23 rare or unique FANCM PTVs, 15 have not been previously reported. We provide here the initial spectrum of FANCM PTVs in European breast cancer cases.
Publisher: Hindawi Limited
Date: 2020
DOI: 10.1017/S0016672320000075
Abstract: 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.
Publisher: Wiley
Date: 09-10-2023
DOI: 10.1111/PHOR.12466
Publisher: MDPI AG
Date: 24-05-2021
DOI: 10.3390/RS13112062
Abstract: Estimation of urban tree canopy parameters plays a crucial role in urban forest management. Unmanned aerial vehicles (UAV) have been widely used for many applications particularly forestry mapping. UAV-derived images, captured by an onboard camera, provide a means to produce 3D point clouds using photogrammetric mapping. Similarly, small UAV mounted light detection and ranging (LiDAR) sensors can also provide very dense 3D point clouds. While point clouds derived from both photogrammetric and LiDAR sensors can allow the accurate estimation of critical tree canopy parameters, so far a comparison of both techniques is missing. Point clouds derived from these sources vary according to differences in data collection and processing, a detailed comparison of point clouds in terms of accuracy and completeness, in relation to tree canopy parameters using point clouds is necessary. In this research, point clouds produced by UAV-photogrammetry and -LiDAR over an urban park along with the estimated tree canopy parameters are compared, and results are presented. The results show that UAV-photogrammetry and -LiDAR point clouds are highly correlated with R2 of 99.54% and the estimated tree canopy parameters are correlated with R2 of higher than 95%.
Publisher: Institute of Electrical and Electronics Engineers (IEEE)
Date: 12-2016
Location: Iran (Islamic Republic of)
No related grants have been discovered for Ebadat Ghanbari Parmehr.