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Öğe Breast, ovarian and other site cancer patients with BRCA 1/2 mutations: Data from Turkish multicenter retrospective study(Zerbinis Publications, 2021) Köstek, O.; Kücükarda, Ahmet; Tozkır, Hilmi; Nihat Okten, I.; Özden, E.; Çabuk, D.; Cicin, İrfanPurpose: To demonstrate the clinical and demographic findings of the patients harboring BRCA1/2 mutations with breast, genital tract, prostate and pancreas cancers. Methods: The results of sequencing analysis of 200 cancer patients (190 women, 10 men) who had been directed to genetic counseling with an indication BRCA1/ BRCA2 testing from different regions across 9 medical oncology centers were retrospectively analyzed. Results: A total of 200 consecutive cancer patients who harbored BRCA1/BRCA2 mutation [130 (65%) patients harbored BRCA 1 mutation, and 70 harbored BRCA 2 mutation] were included. Of these, 64.0% had breast cancer, 31.5% had genital cancers, 3.5% had prostate and 1.0% had pancreatic cancers. The age at diagnosis [57 (IQR 50-66) years] of parents who had BRCA mutant cancer was higher than the age of their children who had BRCA mutant cancer [median age 45 (IQR 38-45) years]. BRCA2 carriers with ovarian cancer had favorable survival outcomes. In ovarian cancer patients, progression-free survival longer than 12 months was significantly more frequent in BRCA2 carriers compared with those in BRCA1 carriers. Conclusions: Newly diagnosed BRCA 1/2 carriers with cancers were younger than their parents who harbored BRCA mutation with cancer. The findings from Turkish BRCA 1/2 associated cancer patients suggest that earlier onset of the screening program and genetic counseling of BRCA associated patients and their family members are essential to earlier disease diagnosis and to prevent disease occurrence as well. © 2021 Zerbinis Publications. All rights reserved.Öğe Crizotinib Efficacy in ALK-Positive Advanced Stage Non-Small Cell Lung Cancer Patients: A Real-World Experience from Turkey(Elsevier Science Inc, 2018) Kilickap, S.; Öztürk, A.; Karadurmuş, N.; Korkmaz, T.; Yumuk, P.; Cicin, İrfan; Tunali, D.; Yetişyiğit, Tarkan[No Abstract Available]Öğe Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey(Imprimatur Publications, 2020) Demir, Selma; Tozkır, Hilmi; Gürkan, Hakan; Atli, E. Ikbal; Yalçıntepe, Sinem; Atli, Engin; Cicin, İrfanPurpose: Pathogenic/likely pathogenic (P/LP) germline variations in BRCA1 and BRCA2 genes are responsible for the majority of hereditary breast and ovarian cancers. This study presents the BRCA1/BRCA2 sequencing and deletion duplication analyses results of of 493 participants (485 women, 8 men) selected based on the National Comprehensive Cancer Network (NCCN) guidelines. Methods: Next generation sequencing (NGS) and multiplex ligation-dependent probe amplification methods (MLPA) were used to define germline BRCA1/BRCA2 positivity. Results: Overall, the P/LP frequency of the participants was 17.8%. Five of the likely pathogenic variants were novel. The 5266dupC pathogenic variation, which is a founder mutation in the Ashkenazi Jewish population, was the most common variation among the patients, with a frequency of 5.47%. The pathogenic/likely pathogenic variation frequency was significantly higher (p=0.01) among clinically diagnosed familial cancer patisents than those participants without personal history of cancer but enrolled for BRCA1 testing due to familial risk. BRCA1/BRCA mutation positivity was significantly higher (p=0.000) among those who had at least one first- or second-degree relative with breast/ovarian cancer from patients who had no family history. BRCA1/BRCA2 mutation positivity was 69.23% between the patients who had personal history of both breast and ovarian cancer. Conclusion: Based on our findings, we suggest that sequencing all of the coding regions of the BRCA1/BRCA2 genes using NGS is a feasible approach for individuals who are at risk of developing BRCA-related cancer according to NCCN guidelines. The 5266dupC pathogenic variation, as the most common pathogenic variation in the Trakya region of Turkey, should be included if a targeted mutatin screening is planned.Öğe Lorlatinib in ALK- or ROS1-Positive Non-Small Cell Lung Cancer Patients: Experience from an Early Access Program in Turkey(Elsevier Science Inc, 2019) Kilickap, S.; Demirci, U.; Buğdaycı, F.; Tural, D.; Korkmaz, T.; Paydas, S.; Cicin, İrfan; Seber, Selçuk[No Abstract Available]