Tumor Supressor Gene NBS1 among Children Patients with Malignancies

Authors: E. Seemanová 1;  J. Koutecký 2;  J. Radvanská 2;  J. Starý 3;  P. Seeman 4;  K. Gebertová 1;  R. Varon 5;  K. Sperling 5
Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, FN Motol, Praha1 vedoucí MUDr. M. Havlovicová Klinika dětské onkologie 2. LF UK, FN Motol, Praha2 přednosta prof. MUDr. J. Koutecký, DrSc. Hematoonkologické oddělení 2. dětské klinik 5
Published in: Čes-slov Pediat 2004; (5): 242-245.


NBS1 is tumor supressor gene and in slavic population are two mutations in exon 6 (657del5 and R215W)common. Increased cancer risk in adult heterozygotes was repeatedly reported. Hyperradiosensitivity of NBScarriers should be respected for prevention of malignant tumors. Prevention of secondary tumor was motivationfor the detection NBS heterozygotes in children patients with tumors. Authors have found among 688 patients ofpediatric oncology 4 heterozygotes of mutation 657del5 and 3 carries of R215W mutation. The difference betweenthese findings and populations data (occurrence 657del5 in newborn 1:165) is not significant, the difference inoccurrence R215W mutation in our patients and in population is significant (occurrence R215W in newborn 1:234)and more data is necessary for knowledge of role NBS1 mutation in cancerogenesis in childhood. Oncologicalcontrol system wasmodified in all 7 detectedNBS heterozygotes andXray investigation were replaces with anothermethod without ionising radiation.

Key words:
tumor supressor gene NBS1, slavic mutations 657del5 and R215W, NBS heterozygotes amongchildren patients with malignancies

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Neonatology Paediatrics General practitioner for children and adolescents
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