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OBJECTIVE: Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, BRCA1 and BRCA2, which are strongly associated with BC, are included in these criteria. The aim of this study was to compare BC index cases with non-BC individuals in terms of genotype and diagnostic features to investigate the genotype/demographic information association. MATERIALS AND METHODS: Mutational analyses for the BRCA1/BRCA2 genes was performed in 2475 individuals between 2013-2022 from collaborative centers across Turkey, of whom 1444 with BC were designated as index cases. RESULTS: Overall, mutations were identified in 17% (421/2475), while the percentage of mutation carriers in cases of BC was similar, 16.6% (239/1444). BRCA1/BRCA2 gene mutations were detected in 17.8% (131/737) of familial cases and 12% (78/549) of sporadic cases. Mutations in BRCA1 were found in 4.9%, whereas 12% were in BRCA2 (p

© 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.

Aydoğdu, Nurten (Balikesir Author), Bu çalışmada; Rhodeus amarus’un Ekim 2018 – Aralık 2018 tarihleri arasındaki helmint faunasının belirlenmesi amaçlanmıştır. Çalışma sonucunda; 51 adet R. amarus bireyinin 18’nin bir ya da daha fazla parazit türü ile enfekte olduğu bulunmuştur. Konak balıkta toplam 3 adet ektoparazitik helmint türü tanımlanmış olup, üç farklı türe ait 34 parazit bireyine rastlanılmıştır. Bu parazitlerden Monogenea’ dan Dactylogyrus bicornis Malewitzkaja, 1941 (%17,6; 2 parazit/balık); Paradiplozoon homoion (Bychowsky and Nagibina, 1959) (%11,7; 1,3 parazit/balık) konak balığın solungaçlarında, Digenea’ dan Clinostomum complanatum metaserkeri (Rhudolphi, 819) (%13,7; 1,1 parazit/balık) konak balığın solungaç boşluğunda kaydedilebilmiştir. Bu çalışmada, D. bicornis 9 balıkta toplam 18 adet bulunmuş olup, en yaygın parazit türü olarak kaydedilmiştir. Parazit türlerine ait enfeksiyon yüzdeleri ile minimum, maksimum ve ortalama enfeksiyon yoğunlukları değerlendirilmiştir. Diğer taraftan, bu çalışma Susurluk Havzası balık faunasında yer alan R. amarus’un helmint parazitleri üzerine yapılan ilk çalışmadır. Saptanan türlerden, P. homoion ise Türkiye’deki acı balıklarda ilk kez bu çalışma ile bildirilmiştir. Ayrıca bu çalışmada konak balıkta kaydedilen türlerden her biri Susurluk Çayı için yeni kayıt olup, Anadolu’daki dağılımlarına yeni bir lokalite olarak eklenmiştir., In this study; it was aimed to determine the helminth fauna of Rhodeus amarus in Susurluk Stream between October 2018 and December 2018. In result of this study; of fifty-one individuals of R. amarus, eighteen were found to be infected with one or more parasite species. A total of 3 ectoparasitic helminth species were identified in host fish and 34 parasites belonging to three different species were encountered. From these parasites; Dactylogyrus bicornis Malewitzkaja, 1941 ( Monogenea) (17.6%; 2 parasites / fish); Paradiplozoon homoion (Bychowsky and Nagibina, 1959) (Monogenea) (11.7%; 1.3 parasites / fish) in the gills of the host fish, Clinostomum complanatum metaserkeri (Rhudolphi, 819) (Digenea) (13.7%; 1.1 parasites / fish) of the host fish was recorded in the gill cavity. In this study, D. bicornis was found to be the most common parasite species as it was recorded in nine of a total of 18 fishes. Infection percentages of parasite species and minimum, maximum and average infection densities were evaluated. On the other hand, this study is the first study on the helminth parasites of R. amarus in the fish fauna of the Susurluk stream. P. homoion is first record for R. amarus in Turkey. In addition, the species recorded in the host fish in this study are the new record for Susurluk Stream and have been added to their distributions in Anatolia as a new locality.

Kolorektal kanser, dünyada en yaygın görülen kanserlerden biridir. Son 30 yıldagelişen cerrahi ve görüntüleme tekniklerine rağmen kemoterapatiklerin tedavide yeterinceetkin sonuçlar veremediği görülmektedir. Biyoaktif ajanlar olarak adlandırılan bitkiözütleri, son yıllarda yeni tedavilerin geliştirilmesi açısından yoğun olarakaraştırılmaktadır. Epigenetik mekanizmalar üzerinden etkili olduğu anlaşılan bitkiselözütlerin yeni kanser tedavi modellerinin geliştirilmesinde faydalı olacağıdüşünülmektedir. Tüm bu sebepler ile mevcut tez çalışmasında kolorektal kanserhücrelerinde bitkisel özütlerin etkilerinin, önemli bir epigenetik mekanizma olanmikroRNA (miRNA) ekspresyon seviyelerindeki değişimler ile değerlendirilmesiamaçlanmıştır.Gerçekleştirilen çalışmada, Nigella sativa (çörekotu) tohum özütü (NTE), Oleaeuropeae (zeytin) yaprağı özütü (OLE) ve Rubus fruticosus (böğürtlen) kök özütü(RKE)'nün iki kolorektal kanser hücre hattındaki (HT-29 ve LoVo) anti kanser etkisi hücreproliferasyonu ve invazyonu açısından araştırıldı ve olası anti kanser etkinin molekülermekanizması miRNA ekspresyon seviyesinde çalışılarak epigenetik olarak değerlendirildi.WST-1 analizi sonuçlarına göre değerlendirilen bitki özütlerinin hücre proliferasyonunuanlamlı düzeyde azaltıcı etkisinin (p

The PALB2 gene, has been accepted as a moderate-penetrance gene associated with breast cancer susceptibility and this gene product is involved in the DNA damage repair pathway via co-localization with BRCA2. Germline PALB2 mutations are associated with an increased breast cancer risk. However, the prevalence of the diverse types of PALB2 variants depend on the population. Thus, the aim of the present study was to determine, for the first time, the prevalence of PALB2 variants in a Turkish population of BRCA1/BRCA2-negative early-onset patients with breast cancer. In total, 223 Turkish patients with BRCA1/BRCA2 negative early-onset breast cancer and 60 unaffected women were included in the study. All the coding exons and intron/exon boundaries of PALB2 were subjected to mutational analysis by heteroduplex analysis (HDA) and DNA sequencing. Eighteen PALB2 variants were found in breast cancer patients within the Turkish population. Three variants (c.271G>A, c.404C>A and c.2981T>A) have not been previously reported. In addition, nine intronic variants were described, and this study is the first to describe the c.1685-44T>A intronic variant. The prevalence of possible pathogenic PALB2 variants was found to be 4.03 % in BRCA1/2-negative Turkish patients with early-onset breast cancer. Different variants of PALB2 have been reported in the literature, and the prevalence of these variants could different for each population. This is the first study to investigate the prevalence of PALB2 variants in Turkish patients with early-onset breast cancer. British Association for Psychopharmacology