A diverse range of different chromosomal abnormalities have been reported in bladder cancer cells. The most frequently detected genetic abnormaility in transitional cell carcinoma (TCC) of bladder is LOH on chromosome 9.
Abnormalities in genes regulating cell cycle control are often seen in advanced bladder cancers, particularly mutations in p53 and proteins of the G1 checkpoint, especially Rb, CDKN2A
(p16) and cyclin D1 (CCND1).
Overexpression of p73 is also common in bladder cancers and some studies have shown that this is associated with disease progression. Differential mucin expression have also been reported in bladder cancers. However, there
are conflicting reports about expression specific mucins; MUC1, MUC2 and MUC7.
Uroplakins (membrane proteins) are expressed in both normal and cancerous urothelium and can act as a marker for the detection of metastases and circulating TCC cells.
Gene-Environment Interactions: A number of studies have investigated genes that might modulate the susceptibility to bladder cancer associated with cigarette smoking. These include the NAT1, NAT2,
and GSTM1 genes.
Cordon-Cardo C. Molecular alterations in bladder cancer.[Review] Cancer Surv. 1998;32:115-31 Related articles (PubMed)
Hovey RM, et al. Genetic alterations in primary bladder cancers and their metastases Cancer Res. 1998; 58(16):3555-60 Related articles (PubMed)
Medline Search: Chromosome Aberrations/genetics[MH] and bladder cancer (PubMed)
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 Bladder Ca. Genetics
Bladder Ca. : Clinical and Epidemiological Information
 del(9q) in Bladder Cancer
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Loss of heterozygosity (LOH) on chromosome arm 9 is the most frequent genetic alteration in transitional cell carcinomas. Candidate tumour supressor genes/loci have been proposed, including: CDKN2 and DBCCR1
Habuchi T, et al. Structure and methylation-based silencing of a gene (DBCCR1) within a candidate bladder cancer tumor suppressor region at 9q32-q33 Genomics. 1998; 48(3):277-88 Related articles (PubMed)
Habuchi T, et al. A novel candidate tumour suppressor locus at 9q32-33 in bladder cancer localization of the candidate region within a single 840 kb YAC. Hum Mol Genet. 1997; 6(6):913-9 Related articles (PubMed)
Knowles MA. Identification of novel bladder tumour suppressor genes [Review] Electrophoresis. 1999; 20(2):269-79 Related articles (PubMed)
van Tilborg AA, et al. Evidence for two candidate tumour suppressor loci on chromosome 9q in transitional cell carcinoma (TCC) of the bladder but no homozygous deletions in bladder tumour cell lines. Br J Cancer. 1999; 80(3-4):489-94 Related articles (PubMed)
Simoneau M, et al. Four tumor suppressor loci on chromosome 9q in bladder cancer: evidence for two novel candidate regions at 9q22.3 and 9q31 Oncogene. 1999; 18(1):157-63 Related articles (PubMed)
Medline Search: bladder cancer AND chromosome 9 AND deletion (PubMed)
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Bladder Ca. Genetics
Bladder Ca. : Clinical and Epidemiological Information
Chromosme 9
| Uroplakins and Bladder Cancer
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Uroplakins are membrane proteins specific to mammalian urothelium. These are expressed in both normal and cancerous urothelium. Mutations have rarely been reported, however, uroplakins act as a useful marker for detecting metastases and circulating TCC
cells. The uroplakin family includes: UKP1A, UKP1B, UKP2 and UKP3.
Moll R, et al. Uroplakins, specific membrane proteins of urothelial umbrella cells, as histological markers of metastatic transitional cell carcinomas. Am J Pathol 1995; 147(5):1383-97 Related articles (PubMed)
Wu RL, et al. Uroplakin II gene is expressed in transitional cell carcinoma but not in bilharzial bladder squamous cell carcinoma: alternative pathways of bladder epithelial differentiation and tumor formation. Cancer Res. 1998; 58(6):1291-7 Related articles (PubMed)
Yuasa T, et al. Expression of uroplakin Ib and uroplakin III genes in tissues and peripheral blood of patients with transitional cell carcinoma. Jpn J Cancer Res 1998; 89(9):879-82 Related articles (PubMed)
Medline Search: bladder cancer AND uroplakin (PubMed)
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- Related Resources
- UPK1A - GeneCard (Weizmann University)
- UPK1B - GeneCard (Weizmann University)
- UPK2 - GeneCard (Weizmann University)
- UPK3 - GeneCard (Weizmann University)
| Chromosome Y Loss in Bladder Cancer
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Khaled HM, et al. Loss of Y chromosome in bilharzial bladder cancer. Cancer Genet Cytogenet 2000;117(1):32-6 Related articles (PubMed)
Sauter G, et al. Y chromosome loss detected by FISH in bladder cancer. Cancer Genet Cytogenet 1995 Jul 15;82(2):163-9 Related articles (PubMed)
Medline Search: bladder cancer AND chromosome Y (PubMed)
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Bladder Ca. Genetics
Bladder Ca. : Clinical and Epidemiological Information
Chromosme Y
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