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Significance of the monitoring and screening for hereditary nonpolyposis colorectal carcinoma syndrome patients by presenting a case of a family tree.
Abstract INTRODUCTION: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is an autosomal dominant disease, which shows familial clustering. AIM: We would like to emphasize the importance of monitoring the HNPCC syndrome patients by presenting a case of a proven MMR gene mutation carrier and her family tree encompassing 10 years. MATERIALS AND METHOD: To screen a suspected HNPCC Hungarian family member we are taking thorough family histories. If the diagnosis of HNPCC was further supported by immunohistology and the microsatellite status, sequencing of the MMR genes was carried out. RESULTS: A nov...
Source: Orvosi Hetilap - July 1, 2017 Category: General Medicine Authors: Kóder G, Olasz J, Tóth L, Urbancsek H, András C, Bubán T, Palatka K, Damjanovich L, Tanyi M Tags: Orv Hetil Source Type: research