Hereditary Melanoma Resulting from Mutation in the Tumour Suppressor Gene NBS1
Dědičný melanom v důsledku mutace v tumor supresorovém genu NBS1
Melanom je etiologicky heterogenní malignita s vysokou agresivitou a nejistou prognózou, jehož incidence v důsledku módního slunění každoročně stoupá. Familiární výskyt maligního melanomu je geneticky determinovaný a kromě mutací v genech pro CCM1,CCM2, CCM3, CCM4 byl opakovaně popsán mezi nositeli mutace syndromů chromosomální instability s hypersenzitivitou k ionizujícímu záření.
Autoři referují případ rodiny s familiárním výskytem maligního melanomu ve středním věku u nositele „slovanské“ mutace v genu NBS1 na 8q21.
Klíčová slova:
maligní melanom, familiární výskyt, tumor supresorový gen NBS1, slovanská mutace 657del5
Authors:
E. Seemanová; P. Seeman
Authors‘ workplace:
DNA laboratoř Kliniky dětské neurologie UK 2. LF, Praha
vedoucí MUDr. P. Seman
; Oddělení klinické genetiky ÚBLG UK 2. LF, Praha
vedoucí MUDr. M. Havlovicová
Published in:
Čes-slov Pediat 2007; 62 (3): 171-173.
Category:
The current Case
Overview
Melanoma is etiologically a very heterogenic malignancy with high aggressiveness and bad prognosis. The incidence of malignant melanoma is increased very probably due to sun abuse. Familial occurrence of malignant melanoma is genetically determined and apart from mutations in genes for CCM1, CCM2, CCM3, CCM4, was repeatedly found in the heterozygotes of mutations for chromosomal instability syndromes with hypersensitivity to ionization.
Authors refer the family with familial occurrence of malignant melanoma in middle age in the carrier of ‘Slavic’ mutation in NBS1 gene on 8q21.
Key words:
familial malignant melanoma, autosomal dominant inheritance, tumour suppressor gene NBS1, Slavic mutation 657del5
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2007 Issue 3
- Diagnosis of Cow Milk Protein Allergy − Current Methods and Their Diagnostic Value
- Subcutaneous vs. Intravenous Immunoglobulins in Patients with CLL
- Inosine pranobex in the treatment of influenza and other respiratory infections of viral etiology
- Inosine Pranobex in the Treatment of Cervical HPV Infections
Most read in this issue
- Effects of Short-term and Long-term Usage of Cannabinoids
- Antiepileptic Drugs and Lactation
- The Use of Growth Models for Construction of Velocity Curves of Somatic Characteristics Based on Data of Semilongitudinal Study
- Hereditary Melanoma Resulting from Mutation in the Tumour Suppressor Gene NBS1