Browsing by Author "Yakicier, Cengiz"

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Dealing with the gray zones in the management of gastric cancer: The consensus statement of the Istanbul Group
(AVES, 2019-01-01) Aytac, Erman; Aslan, Fatih; Cicek, Bahattin; Erdamar, Sibel; Gurses, Bengi; Guven, Koray; Falay, Okan; Karahasanoglu, Tayfun; Selcukbiricik, Fatih; Selek, Ugur; Atalar, Banu; Balik, Emre; Tozun, Nurdan; Rozanes, Izzet; Arican, Ali; Hamzaoglu, Ismail; Baca, Bilgi; Mandell, Nil Molinas; Saruc, Murat; Goksel, Suha; Demir, Gokhan; Agaoglu, Fulya; Yakicier, Cengiz; Ozbek, Ugur; Ozben, Volkan; Ozyar, Enis; Guner, Ahmet Levent; Er, Ozlem; Kaban, Kerim; Bolukbasi, Yasemin; Bugra, Dursun; Ahishali, Emel; Asian, Fatih; Boz-bas, Aysun; Hamzaoglu, Hulya; Karaman, Ahmet; Kucukmetin, Nurten Turkel; Vardareli, Eser Kutsal; Onder, Fatih Oguz; Sisman, Gurhan; Tiftikci, Arzu; Unal, Hakan Umit; Yapali, Suna; Acar, Sami; Agcaoglu, Orhan; Aghayeva, Afag; Akyuz, Ali; Atasoy, Deniz; Batik, Emre; Bayraktar, Ilknur Erenler; Bayram, Onur; Bilgic, Cagri; Bilgin, Ismail Ahmet; Can, Ugur; Dulgeroglu, Onur; Durukan, Ugur; Gencosmanoglu, Rasim; Gonenc, Murat; Gurbuz, Bulent; Kaya, Mesut; Omarov, Nail; Ozben, Volkan; Ozgur, Ilker; Ozoran, Emre; Sobutay, Erman; Uras, Cihan; Uymaz, Derya; Zenger, Serkan; Ozbek, Ugur; Yakicier, M. Cengiz; Afsar, Cigdem Usul; Bozkurt, Mustafa; Demir, Atakan; Er, Ozlem; Kanitez, Metin; Korkmaz, Taner; Mandel, Nil Molina; Mert, Askhan Guven; Ozer, Leyla; Sonmez, Ozlem; Tunali, Didem; Uluc, Basak Oyan; Yazar, Aziz; Yildiz, Ibrahim; Demirkurek, Cengiz; Guner, Ahmet Levent; Vardareli, Erkan; Armutlu, Aye; Baba, Fisun; Ersozlu, Ilker; Kapran, Yersu; Sahin, Davut; Abacioglu, Mehmet Ufuk; Bese, Nuran; Durankus, Nilufer Kilic; Gural, Zeynep; Ozyar, Enis; Sengoz, Meric; Sezen, Duygu; Caliskan, Can; Guven, Koray; Karaaslan, Ercan; Kizilkaya, Esref; Suleyman, Erdogan; Grp, Istanbul
The geographical location and differences in tumor biology significantly change the management of gastric cancer. The prevalence of gastric cancer ranks fifth and sixth among men and women, respectively, in Turkey. The international guidelines from the Eastern and Western countries fail to manage a considerable amount of inconclusive issues in the management of gastric cancer. The uncertainties lead to significant heterogeneities in clinical practice, lack of homogeneous data collection, and subsequently, diverse outcomes. The physicians who are professionally involved in the management of gastric cancer at two institutions in Istanbul, Turkey, organized a consensus meeting to address current problems and plan feasible, logical, measurable, and collective solutions in their clinical practice for this challenging disease. The evidence-based data and current guidelines were reviewed. The gray zones in the management of gastric cancer were determined in the first session of this consensus meeting. The second session was constructed to discuss, vote, and ratify the ultimate decisions. The identification of the T stage, the esophagogastric area, imaging algorithm for proper staging and follow-up, timing and patient selection for neoadjuvant treatment, and management of advanced and metastatic disease have been accepted as the major issues in the management of gastric cancer. The recommendations are presented with the percentage of supporting votes in the results section with related data.
Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene
(NATURE PUBLISHING GROUP, 2015-01-01) Bayrakli, Fatih; Poyrazoglu, Hatice Gamze; Yuksel, Sirin; Yakicier, Cengiz; Erguner, Bekir; Sagiroglu, Mahmut Samil; Yuceturk, Betul; Ozer, Bugra; Doganay, Selim; Tanrikulu, Bahattin; Seker, Askin; Akbulut, Fatih; Ozen, Ali; Per, Huseyin; Kumandas, Sefer; Torun, Yasemin Altuner; Bayri, Yasar; Sakar, Mustafa; Dagcinar, Adnan; Ziyal, Ibrahim
We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and whole-exome sequencing analysis. Three patients from the same family shared common features of progressive complicated spastic paraplegia. They shared a single homozygous stretch area on chromosome 6. Whole-exome sequencing revealed a homozygous mutation (c.853\_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). Meanwhile, the unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type. The 19 bp deletion in exon 6 generates a stop codon and thus a truncated messenger RNA and protein. The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.
Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports
(BIOMED CENTRAL LTD, 2017-01-01) Uysal, Fahrettin; Turkgenc, Burcu; Toksoy, Guven; Bostan, Ozlem M.; Evke, Elif; Uyguner, Oya; Yakicier, Cengiz; Kayserili, Hulya; Cil, Ergun; Temel, Sehime G.
Background: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients. Case presentations: Three patients were admitted into hospital due to recurrent seizures/syncope, intrauterine and postnatal bradycardia respectively
IVSII-74 T > G: As harmless as we thought?
(WALTER DE GRUYTER GMBH, 2019-01-01) Hocaoglu-Emre, F. Sinem; Yenmis, Guven; Saribal, Devrim; Yakicier, Cengiz
Background: IVSII-74 T > G is one of the most frequently identified polymorphic sites on the beta-globin gene. In our report, we present three cases with low mean corpuscular volume (MCV) value in three and high red blood cell (RBC) value in two of the cases. The objective of this study was to further analyse the reason for condition of three patients, who were referred for the investigation of persistent anemia. Materials and Methods: Following the HPLC analyses of Hb migration pattern, direct nucleotide sequencing of alpha-and beta-globin genes was performed for all cases. Results: The common finding was the homozygosity for the intronic change, IVSII-74 T > G. Conclusion: In the intersection point of the variations on our patients, we claim a homozygous change at position 74 on the intron II of the beta-globin gene alone may be sufficient to cause a beta-thalassemia carrier phenotype.
Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype
(BIOMED CENTRAL LTD, 2013-01-01) Bayrakli, Fatih; Guclu, Bulent; Yakicier, Cengiz; Balaban, Hatice; Kartal, Ugur; Erguner, Bekir; Sagiroglu, Mahmut Samil; Yuksel, Sirin; Ozturk, Ahmet Rasit; Kazanci, Burak; Ozum, Unal; Kars, Hamit Zafer
Background: Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported. Results: We identified a family with the KFS phenotype in which their parents have a consanguineous marriage. Radiological examinations revealed that they carry fusion defects and numerical abnormalities in the cervical spine, scoliosis, malformations of the cranial base, and Sprengel's deformity. We applied whole genome linkage and whole-exome sequencing analysis to identify the chromosomal locus and gene mutated in this family. Whole genome linkage analysis revealed a significant linkage to chromosome 17q12-q33 with a LOD score of 4.2. Exome sequencing identified the G > A p.Q84X mutation in the MEOX1 gene, which is segregated based on pedigree status. Homozygous MEOX1 mutations have reportedly caused a similar phenotype in knockout mice. Conclusions: Here, we report a truncating mutation in the MEOX1 gene in a KFS family with an autosomal recessive trait. Together with another recently reported study and the knockout mouse model, our results suggest that mutations in MEOX1 cause a recessive KFS phenotype in humans.
Optimizing the Personalized Care for the Management of Rectal Cancer: A Consensus Statement
(AVES, 2022-01-01) Aytac, Erman; Ozer, Leyla; Baca, Bilgi; Balik, Emre; Kapran, Yersu; Taskin, Orhun Cig; Uluc, Basak Oyan; Abacioglu, Mehmet Ufuk; Gonenc, Murat; Bolukbasi, Yasemin; Cil, Barbaros E.; Baran, Bulent; Aygun, Cem; Yildiz, Mehmet Erdem; Unal, Kemal; Erkol, Burcak; Yalti, Tunc; Ozbek, Ugur; Attila, Tan; Tozun, Nurdan; Gurses, Bengi; Erdamar, Sibel; Er, Ozlem; Bese, Nuran; Bilge, Orhan; Ceyhan, Guralp Onur; Mandel, Nil Molinas; Selek, Ugur; Yakicier, Cengiz; Karabey, Hulya Kayserili; Saruc, Murat; Ozben, Volkan; Esen, Eren; Ozoran, Emre; Vardareli, Erkan; Guner, Levent; Hamzaoglu, Ismail; Bugra, Dursun; Karahasanoglu, Tayfun; Grp, Istanbul
Colorectal cancer is the third most common cancer in Turkey. The current guidelines do not provide sufficient information to cover all aspects of the management of rectal cancer. Although treatment has been standardized in terms of the basic principles of neoadjuvant, surgical, and adjuvant therapy, uncertainties in the management of rectal cancer may lead to significant differences in clinical practice. In order to clarify these uncertainties, a consensus program was constructed with the participation of the physicians from the Acibadem Mehmet Ali Aydinlar and Koc Universities. This program included the physicians from the departments of general surgery, gastroenterology, pathology, radiology, nuclear medicine, medical oncology, radiation oncology, and medical genetics. The gray zones in the management of rectal cancer were determined by reviewing the evidence-based data and current guidelines before the meeting. Topics to be discussed consisted of diagnosis, staging, surgical treatment for the primary disease, use of neoadjuvant and adjuvant treatment, management of recurrent disease, screening, follow-up, and genetic counseling. All those topics were discussed under supervision of a presenter and a chair with active participation of related physicians. The consensus text was structured by centralizing the decisions based on the existing data.
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16
(WILEY, 2018-01-01) Turkgenc, Burcu; Sanlidag, Burcin; Eker, Amber; Giray, Asli; Kutuk, Ozgur; Yakicier, Cengiz; Tolun, Aslihan; Temel, Sehime G.
We present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes, and onset of 31 to 57 years, which is not typical for a known disease. In a region of shared homozygosity in patients, exome sequencing revealed novel homozygous c.{*}240T>C variant in the 3'UTR of STUB1, the gene responsible for autosomal recessive spinocerebellar ataxia 16 (SCAR16). In other genes, such an alteration of the evolutionarily highly conserved polyadenylation signal from AATAAA to AACAAA is known to highly impair polyadenylation. In contrast, RNA sequencing and quantification revealed that neither polyadenylation nor stability of STUB1 mRNA is affected. In silico analysis predicted that the secondary structure of the mRNA is altered. We propose that this change underlies the extremely low amounts of the encoded protein in patient leukocytes.
Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency
(MOSBY-ELSEVIER, 2018-01-01) Gul, Ersin; Sayar, Esra Hazar; Gungor, Bilgi; Eroglu, Fehime Kara; Surucu, Naz; Keles, Sevgi; Guner, Sukru Nail; Findik, Siddika; Alpdundar, Esin; Ayanoglu, Ihsan Cihan; Kayaoglu, Basak; Geckin, Busra Nur; Sanli, Hatice Asena; Kahraman, Tamer; Yakicier, Cengiz; Muftuoglu, Meltem; Oguz, Berna; Ayvaz, Deniz Nazire Cagdas; Gursel, Ihsan; Ozen, Seza; Reisli, Ismail; Gursel, Mayda
Background: Pathological inflammatory syndromes of unknown etiology are commonly observed in ataxia telangiectasia (AT) and Artemis deficiency. Similar inflammatory manifestations also exist in patients with STING-associated vasculopathy in infancy (SAVI). Objective: We sought to test the hypothesis that the inflammation-associated manifestations observed in patients with AT and Artemis deficiency stem from increased type I IFN signature leading to neutrophil-mediated pathological damage. Methods: Cytokine/protein signatures were determined by ELISA, cytometric bead array, or quantitative PCR. Stat1 phosphorylation levels were determined by flow cytometry. DNA species accumulating in the cytosol of patients' cells were quantified microscopically and flow cytometrically. Propensity of isolated polymorhonuclear granulocytes to form neutrophil extracellular traps (NETs) was determined using fluorescence microscopy and picogreen assay. Neutrophil reactive oxygen species levels and mitochondrial stress were assayed using fluorogenic probes, microscopy, and flow cytometry. Results: Type I and III IFNsignatures were elevated in plasma and peripheral blood cells of patients with AT, Artemis deficiency, and SAVI. Chronic IFN production stemmed fromthe accumulation of DNA in the cytoplasm of ATand Artemis-deficient cells. Neutrophils isolated from patients spontaneously produced NETs and displayed indicators of oxidative and mitochondrial stress, supportive of theirNETotic tendencies. Asimilar phenomenonwas also observed in neutrophils from healthy controls exposed to patient plasma samples or exogeneous IFN-alpha. Conclusions: Type I IFN-mediated neutrophil activation and NET formation may contribute to inflammatory manifestations observed in patients with AT, Artemis deficiency, and SAVI. Thus, neutrophils represent a promising target to manage inflammatory syndromes in diseases with active type I IFN signature.