A hereditaer nonpolyposus colorectalis carcinoma szindrómás betegek szürésének és szoros utánkövetésének fontossága egy családfa bemutatása kapcsán

Translated title of the contribution: Significance of the monitoring and screening for hereditary nonpolyposis colorectal carcinoma syndrome patients by presenting a case of a family tree

Kóder Gergely, Olasz Judit, L. Tóth, Urbancsek Hilda, András Csilla, Bubán Tamás, K. Palatka, Damjanovich László, Tanyi Miklós

Research output: Contribution to journalArticle

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 novel mutation in exon 6 of the hMSH2 gene leading to the deletion of two nucleotide pairs [c.969- 970delTC] was detected in our patient. During the 10-year follow-up period of our patient new HNPCC-associated tumors have developed in several family members. Conslusion: Close surveillance of the patient and its family members at risk was effective, although it requires compliance from the subjects.

Translated title of the contributionSignificance of the monitoring and screening for hereditary nonpolyposis colorectal carcinoma syndrome patients by presenting a case of a family tree
Original languageHungarian
Pages (from-to)1182-1187
Number of pages6
JournalOrvosi Hetilap
Volume158
Issue number30
DOIs
Publication statusPublished - Jul 1 2017

ASJC Scopus subject areas

  • Medicine(all)

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