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Full-Text Articles in Medicine and Health Sciences
Phenotypic Characterization Of Familial Mediterranean Fever Patients Harboring Variantsof Uncertain Significance, Alper Sari, Erdal Bodakçi̇, Berkan Armağan, Hasan Satiş, Nuh Ataş, Nazi̇fe Şule Yaşar Bi̇lge, Reyhan Bi̇li̇ci̇ Salman, Gözde Kübra Yardimci, Hakan Babaoğlu, Levent Kiliç, Mehmet Aki̇f Öztürk, Şemi̇nur Haznedaroğlu, Berna Göker, Umut Kalyoncu, Ti̇muçi̇n Kaşi̇foğlu
Phenotypic Characterization Of Familial Mediterranean Fever Patients Harboring Variantsof Uncertain Significance, Alper Sari, Erdal Bodakçi̇, Berkan Armağan, Hasan Satiş, Nuh Ataş, Nazi̇fe Şule Yaşar Bi̇lge, Reyhan Bi̇li̇ci̇ Salman, Gözde Kübra Yardimci, Hakan Babaoğlu, Levent Kiliç, Mehmet Aki̇f Öztürk, Şemi̇nur Haznedaroğlu, Berna Göker, Umut Kalyoncu, Ti̇muçi̇n Kaşi̇foğlu
Turkish Journal of Medical Sciences
Background/aim: Familial Mediterranean Fever (FMF) is the prototype of hereditary autoinflammatory disorders and caused by mutations on the MEFV gene located on the short arm of chromosome 16. Although some MEFV variants are clearly associated with disease phenotype, there are numerous variants with unknown clinical association which are termed as variants of uncertain significance (VUS). Here, we present clinical correlations of VUS in a large cohort of adult FMF patients from three tertiary centers located in Central Anatolia. Materials and methods: All patients were recruited from FMF in Central Anatolia (FiCA) cohort. Demographic (sex, age at disease onset) and clinical …
Spectrum Of Germline Cancer Susceptibility Gene Mutations In Turkish Colorectal Cancer Patients: A Single Center Study, Haktan Bağiş Erdem, Taha Bahsi̇
Spectrum Of Germline Cancer Susceptibility Gene Mutations In Turkish Colorectal Cancer Patients: A Single Center Study, Haktan Bağiş Erdem, Taha Bahsi̇
Turkish Journal of Medical Sciences
Background/aim: Quarter of colorectal cancer patients have a family history and 6% of these comprise hereditary cancer syndromes. For developing national health strategies for genetic screening, it is crucial to determine the spectrum of damaging alterations in causative genes and to describe frequent founder mutations. Materials and methods: One hundred and thirty six unrelated colorectal cancer cases were investigated. Qiagen large hereditary cancer panel and Hereditary Cancer Solution v1.1 panel were used for sequencing. The sequencing process was performed on the Illumina MiSeq system. The data analyses were performed on QIAGEN Clinical Insight (QCITM) Analyze software and Sophia DDM software. …
Familial Mediterranean Fever, From Pathogenesis To Treatment: A Contemporary Review, Abdurrahman Tufan, Helen Lachmann
Familial Mediterranean Fever, From Pathogenesis To Treatment: A Contemporary Review, Abdurrahman Tufan, Helen Lachmann
Turkish Journal of Medical Sciences
Familial Mediterranean fever (FMF) (OMIM #249100) is the most common hereditary autoinflammatory disease in the world. FMF is caused by gain of function mutations of MEFV gene which encodes an immune regulatory protein, pyrin. Over the last few years, we have witnessed several new developments in the pathogenesis, genetic testing, diagnosis, comorbidities, disease related damage and treatment approaches to FMF. Elucidation of some of the pathogenic mechanisms has led to the discovery of pathways involved in inflammatory, metabolic, cardiovascular and degenerative diseases. The use of next generation sequencing in FMF has revealed many new gene variants whose clinical significance may …