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    Wyświetlanie 1-4 z 4
    Tytuł:
    The CDKN2a common variants: 148 Ala/Thr and 500 C/G in 3 UTR, and their association with clinical course of melanoma
    Autorzy:
    Lamperska, Katarzyna
    Przybyła, Anna
    Kycler, Witold
    Mackiewicz, Andrzej
    Powiązania:
    https://bibliotekanauki.pl/articles/1041123.pdf
    Data publikacji:
    2007
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    melanoma
    statistical analysis
    CDKN2a polymorphisms
    3' UTR
    Opis:
    Changes in CDKN2a gene are known to be linked with sporadic melanoma and hereditary predisposition to this cancer. In the Polish population mutations in the coding region of the CDKN2a gene are rather rare, therefore the attention has been focused on polymorphisms and alterations in uncoding regions such as 3' UTR. The aim of this study was to analyze two common polymorphisms, Ala148Thr and 500 C/G, and correlate them with the clinical course of melanoma. DNA from 285 patients was analyzed and found polymorphisms were correlated with the clinical parameters employing statistical methods. The obtained results allow us to conclude: (i) survival times of 500 C/G carriers vs. cumulating proportion surviving was not statistically significant; (ii) CDKN2a polymorphism 500 C/G correlated with Ala148Thr; (iii) no correlation was observed between the 500 C/G polymorphism and age of diagnosis, localization of primary melanoma and survival time; (iv) we did not find correlation between 500 C/G and type of cancer in the family; (v) changes in the CDKN2a gene were not found in patients with second cancer.
    Źródło:
    Acta Biochimica Polonica; 2007, 54, 1; 119-124
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Analysis of mutations in the p16/ CDKN2A gene in sporadic and familial melanoma in the Polish population.
    Autorzy:
    Lamperska, Katarzyna
    Karczewska, Aldona
    Kwiatkowska, Eliza
    Mackiewicz, Andrzej
    Powiązania:
    https://bibliotekanauki.pl/articles/1043764.pdf
    Data publikacji:
    2002
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    familial melanoma
    melanoma
    mutations
    CDKN2A
    Opis:
    Mutations in CDKN2A have been found in sporadic cutaneous malignant (CMM), in familial CMM and in other syndromes associated with melanoma. In this study DNA was obtained from 207 individuals and five cell lines. There were 157 CMM patients and 50 healthy members of melanoma patients families. The CMM group included patients with one or two melanoma cases in the family, families with dysplastic nevus syndrom (DNS) and patients with a spectrum of other types of cancers in the family. PCR-SSCP analysis and sequencing identified: six substitutions in codon 58 CGA/TGA (Arg/Stop), 16 substitutions GAC/GAT in codon 84 (Asp/Asp), six substitutions CGA /TGA in codon 148 (Arg/Thr), 14 substitutions G/C in 3'UTR and 4 double changes (two in codon 84 and 3'UTR; two in codon 148 and 3'UTR). The mutation identified in codon 58 was found in tissue only. Other substitutions were polymorphisms found in DNA from tissue and blood samples. Most of them were identified in sporadic CMM (six in codon 148 Ala /Thr, 12 in codon 84 Asp/Asp and six in 3'UTR). The frequency of the polymorphisms was also high in DNS and CMM/DNS families (four in codon 84 Asp/Asp and six in 3'UTR). No mutations or polymorphisms were found in CMM patients with one or two melanoma cases and CMM patients, with other cancers in family history. The analysis of the CDKN2A gene mutations in the Polish population demonstrated: (i) no germline mutations; (ii) a relatively high number of genetic changes in sporadic melanoma; (iii) a high number of polymorphisms in DNS and CMM/DNS families.
    Źródło:
    Acta Biochimica Polonica; 2002, 49, 2; 369-376
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Expression of p16 in sporadic primary uveal melanoma.
    Autorzy:
    Lamperska, Katarzyna
    Mackiewicz, Krystyna
    Kaczmarek, Aldona
    Kwiatkowska, Eliza
    Starzycka, Maria
    Romanowska, Bożena
    Heizman, Janina
    Stachura, Jerzy
    Mackiewicz, Andrzej
    Powiązania:
    https://bibliotekanauki.pl/articles/1043765.pdf
    Data publikacji:
    2002
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    sporadic primary uveal melanoma
    mutations
    p16 protein
    Opis:
    Expression of p16 protein, intragenic mutations of CDKN2A and hypermethylation of CDKN2A promoter region in 41 sporadic primary uveal melanomas were studied. There were 2 cases of spindle cell B histological type, 11 of A + B and 28 of mixed type. All melanomas infiltrated sclera but in 28 cases infiltration was superficial while in 13 profound. In 7 cases the tumor infiltrated the optic nerve. Expression of p16 was studied by immunohistochemistry and recorded by assessment of the proportion of positive tumor cells and staining intensity. Results were expressed as staining index (IRS). Intragenic mutations were studied by PCR-SSCP followed by sequencing, while hypermethylation of the promoter region by CpG methylation assay. In 15% of cases less than 10% of melanoma cells were p16 positive, in 70% of cases less than 50% of cells, while in 7% more than 80% of cells stained for p16 (mean IRS for all cases was 4.87 ± 2.43). In B type the IRS was 8.5 ± 0.7, in A + B type 6.0 ± 2.1 and in the mixed type 4.17 ± 2.43 (differences statistically significant). In melanomas profoundly infiltrating sclera mean IRS was 4.16, while in those infiltrating optic nerve 3.71 (statistically not significant). Analysis of the intragenic mutations revealed in two patients a GAC/GAT substitution in codon 84 - a silent mutation. No hypermethylation of the CpG island of the p16 promoter region was found. In conclusion, we found that the degree of p16 expression is related to the histological type of tumor but not to the histological indicators of tumor invasiveness and that intragenic mutations and promoter hypermethylation are not major mechanisms of p16 inactivation in sporadic uveal melanoma.
    Źródło:
    Acta Biochimica Polonica; 2002, 49, 2; 377-385
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Development of a new, simple and cost-effective diagnostic tool for genetic screening of hereditary colorectal cancer - the DNA microarray assay
    Autorzy:
    Stojcev, Zoran
    Banasiewicz, Tomasz
    Kaszuba, Michał
    Sikorski, Adam
    Szczepkowski, Marek
    Bobkiewicz, Adam
    Paszkowski, Jacek
    Krokowicz, Łukasz
    Biczysko, Maciej
    Szmeja, Jacek
    Jurkowska, Monika
    Majewski, Przemysław
    Mackiewicz, Andrzej
    Lamperska, Katarzyna
    Drews, Michał
    Wojciechowicz, Jacek
    Powiązania:
    https://bibliotekanauki.pl/articles/1039574.pdf
    Data publikacji:
    2013
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    HNPCC
    DNA microarray
    colon cancer
    Opis:
    Detection of mutations in families with a hereditary predisposition to colon cancer gives an opportunity to precisely define the high-risk group. 36 patients operated on for colon cancer, with familiar prevalence of this malignancy, were investigated using the DNA microarrays method with the potential detection of 170 mutations in MLH1, MSH2, MSH6, CHEK2, and NOD2 genes. In microarrays analysis of DNA in 9 patients (25% of the investigated group), 6 different mutations were found. The effectiveness of genetic screening using the microarray method is comparable to the effectiveness of other, much more expensive and time-consuming methods.
    Źródło:
    Acta Biochimica Polonica; 2013, 60, 2; 195-198
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
      Wyświetlanie 1-4 z 4

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