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1

Podloze molekularne zespolu Nijmegen

100%
Mosor M., Januszkiewicz-Lewandowska D.
Postępy Biologii Komórki
|
2004
|
tom 31
|
nr 4
735-747
2

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

80%
Ziolkowska I., Mosor M., Nowak J.
Journal of Applied Genetics
|
2006
|
tom 47
|
nr 3
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.
3

Gene–diet-related factors of hyperglycaemia in postmenopausal women

71%
Grygiel-Gorniak B., Kaczmarek E., Mosor M., Przyslawski J., Nowak J.
Journal of Applied Genetics
|
2018
|
tom 59
|
nr 2
4

Sposób żywienia a insulinooporność w grupie kobiet otyłych po menopauzie z dyslipidemią

71%
Grygiel-Gorniak B., Przyslawski J., Stelmach-Mardas N., Mosor M., Nowak J.
Bromatologia i Chemia Toksykologiczna
|
2011
|
tom 44
|
nr 3
5

Prevalence of the most frequent BRCA1 mutations in Polish population

32%
Brozek I., Cybulska C., Ratajska M., Piatkowska M., Kluska A., Balabas A., Dabrowska M., Nowakowska D., Niwinska A., Pamula-Pilat J., Tecza K., Pekala W., Rembowska J., Nowicka K., Mosor M., Januszkiewicz-Lewandowska D., Rachtan J., Grzybowska E., Nowak J., Steffen J., Limon J.
Journal of Applied Genetics
|
2011
|
tom 52
|
nr 3
The purpose of our study was to establish the frequency and distribution of the four most common BRCA1 mutations in Polish general population and in a series of breast cancer patients. Analysis of the population frequency of 5382insC (c.5266dupC), 300T >G (p.181T >G), 185delAG (c.68_69delAG) and 3819del5 (c.3700_3704del5) mutations of the BRCA1 gene were performed on a group of respectively 16,849, 13,462, 12,485 and 3923 anonymous samples collected at birth in seven Polish provinces. The patient group consisted of 1845 consecutive female breast cancer cases. The most frequent BRCA1 mutation in the general population was 5382insC found in 29 out of 16,849 samples (0.17%). 300T >G and 3819del5 mutations were found in respectively 11 of 13,462 (0.08%) and four of 3923 (0.1%) samples. The population prevalence for combined Polish founder 5382insC and 300T >G mutations was 0.25% (1/400). The frequencies of 5382insC and 300T >G carriers among consecutive breast cancer cases were, respectively, 1.9% (35/1845) and 1.2% (18/1486). Comparing these data with the population frequency, we calculated the relative risk of breast cancer for 5382insC mutation at OR = 17 and for 300T >G mutation at OR = 26. Our results, based on large population studies, show high frequencies of founder 5382insC and 300T >G BRCA1 mutations in Polish general population. Carriage of one of these mutations is connected with a very high relative risk of breast cancer.
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