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:: Volume 18, Issue 2 (Scientific Journal of Kurdistan Universiy of Medical Sciences 2013) ::
SJKU 2013, 18(2): 18-25 Back to browse issues page
One novel PMS2 germline mutation in a patient with hereditary non polyposis colorectal cancer
Mahdi Montazer Haghighi Dr 1, Mohammad Yaghoob Taleghani 2, Zahra Akbari 2, Maedeh Alidadi 2, Ehsan Nazemalhosseini Mojarad 2, Mahsa Molaei Dr3, Mohammad Reza Zali Dr4
1- Shahid Beheshti University of Medical Sciences , mah_haghighi@hotmail.com
2- Shahid Beheshti University of Medical Sciences
3- Assistant Professor Shahid Beheshti University of Medical Sciences
4- Professor Shahid Beheshti University of Medical Sciences
Abstract:  
ABSTRACT Background and Aim: Hereditary non polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome. The cancer appears between 40 and 50 years of age. Mutation in mismatch repair genes can lead to this cancer .One of the genes which is involved in this disease is PMS2 gene. Here, we present a case with a novel germline mutation in PMS2 gene. The aim of this report was to examine PMS2 gene and identify novel germline mutations in this gene. Case presentation: A 77-year-old male with diagnosis of colorectal carcinoma was referred for genetic testing. He suffered from a polyp with a diameter of 6.8 cm in hepatic flexure. The patient did not meet Amsterdam Criteria and Bethesda Guidelines, but screening for HNPCC was performed on account of pathological findings. Blood sample was used for identification of mutation and the paraffin embedded block was prepared for MSI analysis. Conclusion: One mutation in PMS2 gene was detected by analysis of the amplicon sequencing. The mutation was a transitional mutation in position 676 which led to transformation of guanine to adenine resulting in substitution of glutamic acid for glycine. Immunohistochemistry confirmed abnormal expression of PMS2 gene and MSI assay showed instability of sequenced amplicons in this gene. Conflict of Interest: Nil Received: Mar 11, 2012 Accepted: Apr 7, 2013
Keywords: HNPCC, PMS2 gene, MSI.
Full-Text [PDF 279 kb]      
Type of Study: Research | Subject: General
Received: 2013/06/18
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Volume 18, Issue 2 (Scientific Journal of Kurdistan Universiy of Medical Sciences 2013) Back to browse issues page
مجله علمی دانشگاه علوم پزشکی کردستان Scientific Journal of Kurdistan University of Medical Sciences
مجله علمی دانشگاه علوم پزشکی کردستان Scientific Journal of Kurdistan University of Medical Sciences
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