Person: GÜNEY, AHMET İLTER
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GÜNEY
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AHMET İLTER
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Publication Metadata only Characterization of brca genes’ variants in turkish hereditary breast and ovarian cancer (hboc) patients(2020-06-09) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ARSLAN ATEŞ E., ALAVANDA C., TÜRKYILMAZ A., POLAT H., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ.Publication Metadata only Bcl-3 gene expression in metastatic breast cancer patients(2020-11-26) PEKER EYÜBOĞLU, İREM; GÜNEY, AHMET İLTER; FEJZULLAHU A., AKIN TELLİ T., PEKER EYÜBOĞLU İ., YUMUK P. F., GÜNEY A. İ.Publication Metadata only LMNA Gen Mutasyonu Saptanan Nadir Mandibuloakral Displazi Olgusu(2020-01-11) GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ARMAN, AHMET; GEÇKİNLİ B. B., ARSLAN ATEŞ E., ALAVANDA C., POLAT H., Yıldırım Ö., GÜNEY A. İ., ARMAN A.Publication Metadata only A recurrent HPS1 gene mutation in a Hermansky-Pudlak patient with uncommon clinical presentation(2020-02-22) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ATA, PINAR; ARMAN, AHMET; ALAVANDA C., ARSLAN ATEŞ E., POLAT H., İlker A., Yıldırım Ö., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ., ATA P., ARMAN A.Publication Metadata only A patient with a novel homozygous CD55 gene mutation and its clinical presentation(2021-09-18) GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ARMAN, AHMET; ATA, PINAR; UĞUZDOĞAN F., ALAVANDA C., POLAT H., Demir Ş., GEÇKİNLİ B. B., ARSLAN ATEŞ E., GÜNEY A. İ., ARMAN A., ATA P.Publication Metadata only ZBTB24 novel mutation identified in Turkish ICF syndrome patient(2020-02-22) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ATA, PINAR; ARMAN, AHMET; İlker A., POLAT H., ALAVANDA C., Yıldırım Ö., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ., ATA P., ARMAN A.Publication Metadata only Brca1/2 negatif meme-over kanseri tanili olgularda çoklu gen panelinin etkinliğinin retrospektif incelenmesi(2021-11-28) GÜNEY, AHMET İLTER; GEÇKİNLİ, BİLGEN BİLGE; ALAVANDA C., ARSLAN ATEŞ E., POLAT H., Demir Ş., Dirimtekin E., Başer Z. M., GEÇKİNLİ B. B., GÜNEY A. İ.Giriş: Kalıtsal meme-over kanseri (HBOC) %10-15 BRCA genleri ile ilişkili olmakla beraber, BRCA-negatif hastalarda da genetik etyolojiyi aydınlatmak hem hasta takibinde hem de hastanın aile bireylerinin taranması ve genetik danışma verilmesi açısından önem arz etmektedir. Bu nedenle son yıllarda BRCA1/2 mutasyonu saptanmamış hastalarda, HBOC ile ilişkilendirilmiş başka genler yaygın olarak taranmaktadır. Amaç: BRCA genlerinden herhangi birinde patojenik tek nükleotid değişimi veya kopya sayısı değişimi saptanmamış olan meme ve/veya over kanseri olan olgularda çoklu gen panel testlerinin etkinliğini ve mutasyon saptanma oranını retrospektif olarak değerlendirmek ve Türk toplumunda BRCA dışı genlerin mutasyon sıklığını belirlemektir. Yöntem: Aile öyküsünde farklı kanser türleri bulunan veya kendinde birden fazla kanser tanısı olan veya BRCA genlerinde patojenik varyant saptanmayan meme-over kanseri olguları poliklinikte değerlendirilerek test öncesi genetik danışma verildi. Onam alınan hastalardan DNA izolasyonu sonrası ‘’Sophia Hereditary Cancer Solution’’ ve ‘’Sophia Custom Solution CHCS_C_v2’’ kitleri kullanılarak kanser sendromları ile ilişkili genler (ATM, BARD1, BRIP1, CHEK2, TP53, MUTYH, RAD50, RAD51C, RAD51D, PALB2, CDH1, MLH1, MSH2, MSH3, PMS2, MSH6, PIK3CA, PTEN, STK11, XPA, ERCC3, APC, BLM, NBN, MRE11A, PTCH1, AXIN2, NF1) Illumina Nextseq ile dizilendi. Saptanan varyantlar Clinvar, HGMD veri tabanlarında tarandı ve ACMG kriterlerine göre sınıflandırıldı. Bulgular: Çalışmaya 95 kadın ve bir erkek meme kanseri olgusu, 8 aile öyküsünde HBOC olduğu düşünülen olgu, 6 over kanseri tanılı olgu ve 9 birden fazla farklı kanser tanısı olan olgu olmak üzere 119 kişi dahil edildi. Otuz hastada panel genlerinden birinde patojenik varyant (3’ü novel) saptanarak BRCA-negatif hastaların %25’inde genetik etyoloji aydınlatılmış oldu. En sık patojenik varyant saptanan genler sırasıyla CHEK2 (%5,8), ATM (%2), MUTYH (%2) idi. Altmış hastada (%50) panel genlerinin en az birinde VUS saptanarak aile çalışmaları planlandı. En sık VUS saptanan genler; ATM (%8,4), RAD50 (%6,7), CHEK2 (%6,7). Otuz iki (%26,8) hastanın panel çalışması sonucunda herhangi bir VUS veya patojenik varyant saptanmadı. Sonuç: Çoklu gen panelleri BRCA-negatif HBOC olgularında moleküler mekanizmanın aydınlatılması, hastanın ve ailesindeki presemptomatik bireylerin değerlendirilmesi açısından önemli olmakla beraber saptanan VUS’ların değerlendirilmesi kolay olmadığından uygun kriterleri sağlayan hastaların belirlenerek taranması önemlidir.Publication Metadata only Il-6 and UGT1A1 variations may related to furosemide resistance in heart failure patients(2023-01-01) GÜNEY, AHMET İLTER; SÜNBÜL, MURAT; Koprululu Kucuk G., GÜNEY A. İ., SÜNBÜL M., Guctekin T., Koç G., Kirac D.Furosemide is a diuretic and is used for the treatment of patients with heart failure (HF). It has been found that in some HF patients, the drug does not treat patients efficiently. This condition is named as furosemide resistance. In this study, it is aimed to investigate the relationship between UDP-glucuronosyltransferase 1 (UGT1A1) and interleukine-6 (IL-6) variations with furosemide resistance in HF patients. Sixty HF patients using furosemide (patient group) and 30 healthy individuals (control group) were enrolled in this study. Patients were divided into two subgroups as non-responders (furosemide resistant) group (n = 30) and the responders (non-resistant) group (n = 30) according to the presence of furosemide resistance (n = 30). Variations in the first exon of UGT1A1 and rs1800795 and rs1800796 variations in IL-6 were analyzed by direct sequencing and real-time polymerase chain reaction (RT-PCR), respectively. The effects of newly detected mutations on 3-D protein structure were analyzed by in silico analysis. At the end of the study, 11 variations were detected in UGT1A1, of which nine of them are novel and eight of them cause amino acid change. Also, rs1800795 and rs1800796 variations were detected in all the groups. When patient and control groups were compared with each other, rs1800796 mutation in IL-6 was found statistically high in the patient group (p = 0.027). When the three groups were compared with each other, similarly, rs1800796 mutation in IL-6 was found statistically high in the non-responders group (p = 0.043). When allele distributions were compared between the patient and control groups, the C allele of rs1800795 mutation in IL-6 was found statistically high in the patient group (p = 0.032). When allele distributions were compared between the three groups, 55T-insertion in UGT1A1 was found statistically high in the non-responders group (p = 0.017). According to in silico analysis results, two variations were found deleterious and six variations were detected as probably damaging to protein functions. Our study may contribute to the elucidation of pharmacogenetic features (drug response–gene relationship) and the development of individual-specific treatment strategies in HF patients using furosemide.Publication Metadata only Schimke immuno-osseous dysplasia patient with early renal dysfunction harboring a novel homozygous mutation in the SMARCAL1 gene(2021-09-18) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ATA, PINAR; ARMAN, AHMET; ALAVANDA C., Demir Ş., UĞUZDOĞAN F., POLAT H., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ., ATA P., ARMAN A.Main findings of this syndrome are steroid resistant nephrotic syndrome (SRNS), immunodeficiency and spondyloepiphyseal dysplasia (SED). Biallelic mutations in SMARCAL1 gene cause SIOD. SMARCAL1 encodes a conserved ATP-dependent chromatin remodeling protein which is a member of Sucrose Non-Fermenting 2(SNF2) family. Case: One-year-old female referred to our clinic because of having growth retardation and developmental delay. Her parents were from the same small village. She was delivered prematurely due of preeclampsia. In neonatal intensive care unit cardiac and renal anomalies were detected. Eruption of deciduous teeth were delayed. Fine hair, microcephaly, prominent forehead, malar hypoplasia, depressed nasal bridge, bulbous nasal tip, long philtrum, thin upper lip, everted lower lip, microdontia, anteverted ears, short neck and trunk, hyperpigmented macules on trunk, protruding abdomen, tapering fingers, brachydactyly were detected. She was diagnosed with SRNS. Skeletal survey showed platyspondyly, scoliosis, shallow acetabular fossae. No pathology was observed in the epiphyses. After DNA isolation from the peripheral blood, clinical exome sequencing were performed via next-generation-sequencing. Novel homozygous c.2423_2427+9delCCAGGGGTAAGAGA mutation in the SMARCAL1 gene(NM_001127207) was detected. According to ACMG criterias it was pathogenic(PVS1,PM2, PP3). Her parents were heterozygous. Discussion/ Conclusion: SIOD is characterized with short stature,SED,immune deficiency,SRNS and dysmorphic findings. SIOD had classified into severe and mild types. In severe patients, infections, cerebrovascular disease and renal phenotype present at an earlier age. Our patient had a severe phenotype as she carried a truncating mutation. This study reveals a novel mutation and contributes to the genotype-phenotype correlation for SIOD.Publication Metadata only Spink5 gen mutasyonu saptanan netherton sendrom'lu olgu(2020-01-11) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ATA, PINAR; ARSLAN ATEŞ E., ALAVANDA C., ERTÜRK B., SİNGER R., Yıldırım Ö., POLAT H., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ., ATA P., et al.