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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

The incidence rates of particular variants in codon 148 of CDKN2A gene in various neoplasms, found in the Polish population. The occurrence of adenine instead of guanine in codon 148 is associated with the change of the coded amino acid - alanine (CGG) - to threonine (CGA).n- the number of studied subjects controls - a control group for the Polish population, consisting of 500 newborns and 710 adult; „significant” - designates a group of neoplasms, in which the percent of the threonine-encoding variant was statistically significantly higher than in the control population; „not significant” - designates a group of neoplasms in which the distribution of incidence of the threonine-encoding variant is not different from that in the general population.Based on the study by Dębniak et al. 2006 [31].
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Figure 0002: The incidence rates of particular variants in codon 148 of CDKN2A gene in various neoplasms, found in the Polish population. The occurrence of adenine instead of guanine in codon 148 is associated with the change of the coded amino acid - alanine (CGG) - to threonine (CGA).n- the number of studied subjects controls - a control group for the Polish population, consisting of 500 newborns and 710 adult; „significant” - designates a group of neoplasms, in which the percent of the threonine-encoding variant was statistically significantly higher than in the control population; „not significant” - designates a group of neoplasms in which the distribution of incidence of the threonine-encoding variant is not different from that in the general population.Based on the study by Dębniak et al. 2006 [31].


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)

The incidence rates of particular variants in codon 148 of CDKN2A gene in various neoplasms, found in the Polish population. The occurrence of adenine instead of guanine in codon 148 is associated with the change of the coded amino acid - alanine (CGG) - to threonine (CGA).n- the number of studied subjects controls - a control group for the Polish population, consisting of 500 newborns and 710 adult; „significant” - designates a group of neoplasms, in which the percent of the threonine-encoding variant was statistically significantly higher than in the control population; „not significant” - designates a group of neoplasms in which the distribution of incidence of the threonine-encoding variant is not different from that in the general population.Based on the study by Dębniak et al. 2006 [31].
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 0002: The incidence rates of particular variants in codon 148 of CDKN2A gene in various neoplasms, found in the Polish population. The occurrence of adenine instead of guanine in codon 148 is associated with the change of the coded amino acid - alanine (CGG) - to threonine (CGA).n- the number of studied subjects controls - a control group for the Polish population, consisting of 500 newborns and 710 adult; „significant” - designates a group of neoplasms, in which the percent of the threonine-encoding variant was statistically significantly higher than in the control population; „not significant” - designates a group of neoplasms in which the distribution of incidence of the threonine-encoding variant is not different from that in the general population.Based on the study by Dębniak et al. 2006 [31].
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