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Significance of CDKN2A gene A148T variant in patients with bladder cancer.

Borkowska E, Jędrzejczyk A, Kruk A, Pietrusiński M, Traczyk M, Rożniecki M, Kałużewski B - Cent European J Urol (2011)

Bottom Line: A148T polymorphism was detected by the MSSCP technique and by sequencing.A148T polymorphism was identified in 9/156 urinary bladder carcinoma cases (only in men).The obtained results were compared with the polymorphism incidence for the Polish population, estimated by Debniak et al.

View Article: PubMed Central - PubMed

Affiliation: Chair of Clinical and Laboratory Genetics, Medical University of Łódź, Poland.

ABSTRACT

Objectives: The A148T polymorphism of CDKN2A gene is observed in various neoplasms with the incidence rate of 3-35%, however, rather little is known either about the frequency of its occurrence or of its significance in urinary bladder carcinoma.

Materials and methods: DNA was isolated from blood of 156 patients with urinary bladder carcinoma (130 men). In histopathology, 84 cases were classified as G1, 42 as G2, and 30 as G3. The clinical stage was in 81 cases estimated at Ta and in 75 cases at T1-T4. A148T polymorphism was detected by the MSSCP technique and by sequencing.

Results: A148T polymorphism was identified in 9/156 urinary bladder carcinoma cases (only in men). The obtained results were compared with the polymorphism incidence for the Polish population, estimated by Debniak et al. The occurrence in the group of the bladder cancer patients turned out higher (5.77%) from that in the control group (2.89%) (G test, table 2×2: NBLADDER CANCER = 156, NCONTROL = 1210, G = 4.298, p <0.05).

Conclusion: Summing up and taking into account the analysis of clinical parameters and the age of the disease occurrence, the A148T polymorphism of CDKN2A gene was identified in the study group only in men, in whom the disease was diagnosed above the age of 60, while the diagnosed neoplasms were in the majority of cases characterized by higher clinical stages and higher grades of malignancy. This has been the first study that attempted to show a potential association between A148T alterations and an increased risk for bladder cancer development.

No MeSH data available.


Related in: MedlinePlus

Results of electrophoresis (MSSCP) of CDKN2A gene exon 2 and of sequentioning of particular codon 148 variants. The black arrow designates the G/G (Ala/Ala) homozygotic system, the blue arrow – the heterozygotic A/G (Thr/Ala) system and the red arrow – the homozygotic A/A (Thr/Thr) system.
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Figure 0001: Results of electrophoresis (MSSCP) of CDKN2A gene exon 2 and of sequentioning of particular codon 148 variants. The black arrow designates the G/G (Ala/Ala) homozygotic system, the blue arrow – the heterozygotic A/G (Thr/Ala) system and the red arrow – the homozygotic A/A (Thr/Thr) system.

Mentions: Common polymorphic variants of CDKN2A gene were found in our study at codon 148 in exon 2 (Ala148Thr) in 9 cases (Tab. 3, Fig. 1). All the confirmed cases were first identified by the MSSCP technique and then verified by sequencing. A full conformability of results was attained in both techniques. The obtained frequencies were compared with the control group from the Polish population, examined by Debniak and colleagues, and a significant difference was found in the prevalence of A148T polymorphism in the bladder cancer group (G test, Table 2 ×2: NBLADDER CANCER = 156, NCONTROL = 1210, G = 4.298, p <0.05) [13]. No differences were observed in the frequencies of Nt500c >g alleles or in the frequencies of Nt540c >t alleles, either in the bladder cancer group or in the reference control group. We used the data for the control group, published by other authors, because they were obtained in studies on a large number of subjects (i.e., 1210) for the Polish population, and by researchers, who are unquestionable authorities in the studies on hereditary predispositions to neoplasm development, including the A148T variant of CDKN2A gene.


Significance of CDKN2A gene A148T variant in patients with bladder cancer.

Borkowska E, Jędrzejczyk A, Kruk A, Pietrusiński M, Traczyk M, Rożniecki M, Kałużewski B - Cent European J Urol (2011)

Results of electrophoresis (MSSCP) of CDKN2A gene exon 2 and of sequentioning of particular codon 148 variants. The black arrow designates the G/G (Ala/Ala) homozygotic system, the blue arrow – the heterozygotic A/G (Thr/Ala) system and the red arrow – the homozygotic A/A (Thr/Thr) system.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3921733&req=5

Figure 0001: Results of electrophoresis (MSSCP) of CDKN2A gene exon 2 and of sequentioning of particular codon 148 variants. The black arrow designates the G/G (Ala/Ala) homozygotic system, the blue arrow – the heterozygotic A/G (Thr/Ala) system and the red arrow – the homozygotic A/A (Thr/Thr) system.
Mentions: Common polymorphic variants of CDKN2A gene were found in our study at codon 148 in exon 2 (Ala148Thr) in 9 cases (Tab. 3, Fig. 1). All the confirmed cases were first identified by the MSSCP technique and then verified by sequencing. A full conformability of results was attained in both techniques. The obtained frequencies were compared with the control group from the Polish population, examined by Debniak and colleagues, and a significant difference was found in the prevalence of A148T polymorphism in the bladder cancer group (G test, Table 2 ×2: NBLADDER CANCER = 156, NCONTROL = 1210, G = 4.298, p <0.05) [13]. No differences were observed in the frequencies of Nt500c >g alleles or in the frequencies of Nt540c >t alleles, either in the bladder cancer group or in the reference control group. We used the data for the control group, published by other authors, because they were obtained in studies on a large number of subjects (i.e., 1210) for the Polish population, and by researchers, who are unquestionable authorities in the studies on hereditary predispositions to neoplasm development, including the A148T variant of CDKN2A gene.

Bottom Line: A148T polymorphism was detected by the MSSCP technique and by sequencing.A148T polymorphism was identified in 9/156 urinary bladder carcinoma cases (only in men).The obtained results were compared with the polymorphism incidence for the Polish population, estimated by Debniak et al.

View Article: PubMed Central - PubMed

Affiliation: Chair of Clinical and Laboratory Genetics, Medical University of Łódź, Poland.

ABSTRACT

Objectives: The A148T polymorphism of CDKN2A gene is observed in various neoplasms with the incidence rate of 3-35%, however, rather little is known either about the frequency of its occurrence or of its significance in urinary bladder carcinoma.

Materials and methods: DNA was isolated from blood of 156 patients with urinary bladder carcinoma (130 men). In histopathology, 84 cases were classified as G1, 42 as G2, and 30 as G3. The clinical stage was in 81 cases estimated at Ta and in 75 cases at T1-T4. A148T polymorphism was detected by the MSSCP technique and by sequencing.

Results: A148T polymorphism was identified in 9/156 urinary bladder carcinoma cases (only in men). The obtained results were compared with the polymorphism incidence for the Polish population, estimated by Debniak et al. The occurrence in the group of the bladder cancer patients turned out higher (5.77%) from that in the control group (2.89%) (G test, table 2×2: NBLADDER CANCER = 156, NCONTROL = 1210, G = 4.298, p <0.05).

Conclusion: Summing up and taking into account the analysis of clinical parameters and the age of the disease occurrence, the A148T polymorphism of CDKN2A gene was identified in the study group only in men, in whom the disease was diagnosed above the age of 60, while the diagnosed neoplasms were in the majority of cases characterized by higher clinical stages and higher grades of malignancy. This has been the first study that attempted to show a potential association between A148T alterations and an increased risk for bladder cancer development.

No MeSH data available.


Related in: MedlinePlus