Regional distribution of heterozygous 657del5 mutation carriers of the NBS1 gene in Wielkopolska province [Poland]

• Autorzy: Ziolkowska I , Mosor M , Nowak J
• Języki publikacji: EN

Abstrakty

EN

The homozygous 657del5 mutation, called Slavic mutation, of the NBS1 gene, causes the Nijmegen Breakage Syndrome (NBS). This syndrome is connected with a high incidence of malignancies in early childhood. A high frequency of NBS heterozygotes was found among patients with melanoma, breast, ovary and prostate cancer. The aim of our research was to determine the frequency of 657del5 mutation of the NBS1 gene in the population of Wielkopolska province. For this purpose, we analysed blood samples from anonymous Guthrie cards. In a group of 2090 newborns from the whole province, we found 16 heterozygous mutation carriers. The frequency of 1/131 is higher than 1/190 reported for populations from other regions in Poland. We observed differential regional distribution of heterozygous 657del5 mutation carriers within the province: among 464 samples from the eastern part of Wielkopolska we found 6 carriers (1/77), in contrast to the southern part without any carrier among 625 samples analysed. The high mean frequency of heterozygous 657del5 mutation (1/131) in Wielkopolska province may be associated with cancer incidence in this region.

Słowa kluczowe

EN

657del5 mutation; cancer incidence; Poland; regional distribution; cancer risk; NBS1 gene; mutation; Nijmegen breakage syndrome; Wielkopolska region

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2006
• Tom: 47
• Numer: 3
• Opis fizyczny: p.269-272,fig.,ref.

Twórcy

autor

Ziolkowska I

• Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland

autor

Mosor M

• Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland

autor

Nowak J

• Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland

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