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1

Constitutional chromosome instability in families with patients affected by sporadic non-hereditary retinoblastoma

100%
Zajaczek S., Gorski B., Krzystolik Z., Lubinski J.
Journal of Applied Genetics
|
1999
|
vol. 40
|
issue 4
343-353
EN
It has been suggested that chromosome instability is a constitutional factor which may be characteristic of families with an increased risk for the development of malignancies. In this study spontaneous chromosome aberrations, sister chromatid exchanges (SCEs) and chromosome sensitivity to bleomycin were analysed in cultured lymphocytes from 13 families with sporadic non-hereditary unilateral retinoblastoma patients. The significantly increased chromosome instability was detected only by the bleomycin test. Higher mean values of breaks/cell were found in all groups of relatives: patients, parents and siblings.
2

Increased constitutional chromosome sensitivity to bleomycin in patients with hereditary non polyposis colorectal cancer (HNPCC)

100%
Kladny J., Zajaczek S., Lubinski J.
Journal of Applied Genetics
|
1996
|
vol. 37
|
issue 4
385-392
EN
It has been suggested that mutagen sensitivity is a constitutional factor which may be useful in identification of patients with an increased risk for the development of tumors. In this study, the chromosome sensitivity to bleomycin was measured according to HSU in patients with hereditary non polyposis colorectal cancer (HNPCC), sporadic colorectal cancer and in control persons with no tumor history in family. In vitro lymphocytes were exposed to bleomycin according to HSU and chromosomal damage was quantified by scoring breaks of 100 cells. A significant difference (P < 0.01) in the mean number of breaks per cell (b/c) was found between HNPCC patients (0.59_0.14; n = 12; mean age 55.4 yrs) and control individuals (0.35_0.13: n = 12; mean age 55.8 yrs). In contrast, patients with sporadic colorectal cancer showed a mean b/c value of 0.43_0.14 (n = 14; mean age 63.4 yrs) which was not significantly higher than that in control individuals for this group (0.42 _0.15; n = 14; mean age 63.1 yrs). Selenium protected lymphocytes of HNPCC patients against bleomycin activity in vitro.
3

The first Rb-1 gene promoter germ-line de novo mutation in patient with retinoblastoma

88%
Zajaczek S., Jakubowska A., Kurzawski G., Krzystolik Z., Lubinski J.
Journal of Applied Genetics
|
1999
|
vol. 40
|
issue 3
241-247
EN
Rb-1 gene promoter mutations are very rare events, only three retinoblastoma families with such alterations were reported up to now. Herein, we describe the first case of the Rb-1 gene promoter germ, line de novo mutation in a proband with sporadic unilateral retinoblastoma. All of reported Rb-1 gene promoter mutations are associated with a reduced penetrance. Together with the literature data it can be roughly estimated that penetration of cases with alteration localised in promoter and similar as in presented case, is at the level of about 60-70%. It seems, that there are some promoter sites more prone for occurrence of mutations.
4

Molecular analysis of a large novel constitutional deletion in a patient with sporadic unilateral retinoblastoma

76%
Zajaczek S., Cragg H., Jakubowska A., Gorsi B., Krzystolik Z., Cowell J. K., Lubinski J.
Journal of Applied Genetics
|
1999
|
vol. 40
|
issue 3
233-239
EN
New Rb-1 gene mutation has been studied at sequence level in DNA of peripheral blood lymphocytes DNA. It is a large 137 bp germ-line de novo in-frame deletion involving nearly all of exons 15-16 in a patient with unilateral sporadic retinoblastoma. Analysis of molecular findings suggests that described mutation occurred by non-homologous recombination and slipped mispairing. Possibly this in-frame deletion limited to loss of exons 15-16 is associated with higher prevalence of unilateral tumours.
5

Relation betwwn DNA replication and DNA repair in human lymphocytes proliferating in vitro in the presence and in absence of mutagen

64%
Szyfter K., Wiktorowicz K., Wielgosz M. S., Zajaczek S., Kujawski M., Jaloszynski P., Czub M., Markowska M.
Journal of Applied Genetics
|
1995
|
vol. 36
|
issue 4
379-388
EN
The effects of mutagens on DNA replication and DNA repair were studied in peripheral blood lymphocytes (BPL) obtained 21 healthy subjects, 2 samples from healthy heterozygote of Xeroderma pigmentosum (XP) and 2 samples from patient with clinically recognized XP.Inter-individual variations were found in DNA replication and in the level of spontanous DNA repair measured under standard culture condition.Exposure of human PBL proliferating in vitro to B(a)P was followed by a partial inhibition of replicative DNA synthesis in all subjects and by induction of DNA repair in healthy subjects.In XP patients DNA repair sythesis remained at the level attributed to spontaneous DNA repair.The response to mutagen varied individually.Results were analysed statistically.It was established that the studied indices of DNA synthesis correlete well with each other.The highest correlation was found between the levels of spontaneous and B(a)P-induced DNA repair.It is concluded that the level of spontaneous DNA repair is predictive for an estimation of cells ability to repair DNA damage.Inter-individual variations in the inhibition of DNA replication and in DNA repair sythesis are also dependet on the type of mutagen as shown by effect of other mutagens.Different effects of mutagen exposure on the inhibition of DNA replicative sythesis and induction of DNA repair can be explained by genetically controlled differences in the activity of enzymes responsible for mutagen processing and lesion removal.
6

Hereditary tumors - prophylactics, early diagnosis, treatment

52%
Lubinski J., Zajaczek S., Kladny J., Kurzawski G., Menkiszak J., Hadaczak P., Cybulski C., Krzystolik K., Toloczko A., Podolski J., Gro
Biotechnologia
|
1996
|
issue 4
201-207
EN
The authors describe the major rules of prophylactics, survaillance and treatment in patients with high hereditary predispodition for tumors on the basis of the experience of the first Polish hereditary cancer center, which was established in Szczecin in 1992.
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