| Autor: |
Gergely, Kóder, Judit, Olasz, László, Tóth, Hilda, Urbancsek, Csilla, András, Tamás, Bubán, Károly, Palatka, László, Damjanovich, Miklós, Tanyi |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
Orvosi hetilap. 158(30) |
| ISSN: |
0030-6002 |
| Popis: |
Hereditary nonpolyposis colorectal carcinoma (HNPCC) is an autosomal dominant disease, which shows familial clustering.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.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.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. Orv Hetil. 2017; 158(30): 1182-1187. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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