الفهرس 
Title : Possible Role of Germline Mutations in Immunoregulation and Development of Bladder Cancer in Egyptian Patients
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Abstract
Background: Bladder cancer (BLCA) is the 10th most commonly diagnosed cancer worldwide. It is more common in men than in women. It is the 6th most common cancer and the 9th leading cause of cancer death among men. In Egypt, bladder cancer is the third most common cancer in Egypt in both sexes and the second most common cancer among Egyptian men. Germline mutations inherited from previous generations act as predispositions in individuals, increasing their susceptibility to develop cancer and increase cancer risk. Aim & Methods: This study was aimed to identify germline mutational pattern in the Egyptian bladder cancer patients that may predispose to the bladder cancer and increase cancer risk. Whole exome sequencing (WES) of 52 Egyptian urothelial bladder cancer (UBC) patients as well as 20 healthy controls was carried out using the Ion Proton sequencer and analyzed using IVA web based application Results: Total numbers of 212,245 variants were detected in BLCA patients while the pathogenic and likely pathogenic (P/LP) variants represent only 0.74% (1581 variants) of all variants detected. The genes that harbored the most frequent pathogenic variants detected were; HNF1A gene harbored two frame-shift deletions; while MEFV gene harbored two missense variants