M Tanyi1, J Olasz, E Kámory, O Csuka, J L Tanyi, Z Ress, L Damjanovich. 1. Department of Surgery, University of Debrecen, Medical and Health Science Centre, Nagyerdei Krt 98, P.O. Box 27, H-4012 Debrecen, Hungary. mtanyi@hotmail.com
Abstract
INTRODUCTION: Hereditary Non-polyposis Colorectal Carcinoma is the most frequent genetic disease leading to colon and other malignancies. Recognizing the condition requires extensive family history going back several generations focusing particularly on the types of tumors occurring in the family at different age groups. METHODS: In families who met the Amsterdam and Bethesda Criteria, the removed tumor tissue was first examined by immunohistochemistry and microsatellite instability analysis. Subsequently DNA sequencing was performed to detect an underlying Mismatch Repair Gene mutation and multiple ligation dependent probe amplification was applied for recognizing large deletions in Mismatch Repair Genes. RESULTS: In the investigated families 3 pathogen mutations, 1 large deletion and 2 cases of polymorphism were found. There is considerable difference between the families in terms of the types of malignancies and the age in which those appeared. CONCLUSION: Recognizing families with Hereditary Non-polyposis Colorectal Carcinoma presents great difficulties because of the variety of phenotypes in presentation. Special attention should be paid to small families and those who present with cancer of other than colon origin. Practicing physicians should be made aware of the fact that this disease may have atypical presentations. Follow up of families who have already been screened may be difficult for social, economical or religious reasons.
INTRODUCTION:Hereditary Non-polyposis Colorectal Carcinoma is the most frequent genetic disease leading to colon and other malignancies. Recognizing the condition requires extensive family history going back several generations focusing particularly on the types of tumors occurring in the family at different age groups. METHODS: In families who met the Amsterdam and Bethesda Criteria, the removed tumor tissue was first examined by immunohistochemistry and microsatellite instability analysis. Subsequently DNA sequencing was performed to detect an underlying Mismatch Repair Gene mutation and multiple ligation dependent probe amplification was applied for recognizing large deletions in Mismatch Repair Genes. RESULTS: In the investigated families 3 pathogen mutations, 1 large deletion and 2 cases of polymorphism were found. There is considerable difference between the families in terms of the types of malignancies and the age in which those appeared. CONCLUSION: Recognizing families with Hereditary Non-polyposis Colorectal Carcinoma presents great difficulties because of the variety of phenotypes in presentation. Special attention should be paid to small families and those who present with cancer of other than colon origin. Practicing physicians should be made aware of the fact that this disease may have atypical presentations. Follow up of families who have already been screened may be difficult for social, economical or religious reasons.
Authors: Miklós Tanyi; Judit Olasz; Janos L Tanyi; László Tóth; Péter Antal-Szalmás; Tamás Bubán; Csilla András; Hilda Urbancsek; Zoltán Garami; Orsolya Csuka; László Damjanovich Journal: Fam Cancer Date: 2012-09 Impact factor: 2.375
Authors: Jukka Kantelinen; Minttu Kansikas; Satu Candelin; Heather Hampel; Betsy Smith; Liisa Holm; Reetta Kariola; Minna Nyström Journal: Hum Mutat Date: 2012-06-11 Impact factor: 4.878