Human pathology

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20q13 amplification

20q12-q13 amplification, 20q13 amplicon

Tumors

- adenocarcinomas

- squamous cell carcinomas (SCCs)

- cerebral tumors

Candidate genes

- MYBL2
- STK6
- ZNF217 (MIM.602967)
- NABC1 (novel amplified in breast cancer-1) (MIM.602968)

Pathology

Amplification at 20q13 occurs in a variety of tumor types and is associated with aggressive tumor behavior. Kallioniemi et al. (1994) found increased copy number involving 20q13 in 40% of breast cancer cell lines and 18% of primary breast tumors.

Other comparative genomic hybridization studies revealed copy number gains at 20q13 in greater than 25% of cancers of the ovary (ovarian carcinomas), colon (colonic adenocarcinomas), head and neck (head and neck carcinomas), brain (cerebral tumors), and pancreas (pancreatic carcinomas).

See also

- regional amplifications
- amplicons

References

- Narayan G, Bourdon V, Chaganti S, Arias-Pulido H, Nandula SV, Rao PH, Gissmann L, Durst M, Schneider A, Pothuri B, Mansukhani M, Basso K, Chaganti RS, Murty VV. Gene dosage alterations revealed by cDNA microarray analysis in cervical cancer: identification of candidate amplified and overexpressed genes. Genes Chromosomes Cancer. 2007 Apr;46(4):373-84. PMID: 17243165

- Ginestier C, Cervera N, Finetti P, Esteyries S, Esterni B, Adelaide J, Xerri L, Viens P, Jacquemier J, Charafe-Jauffret E, Chaffanet M, Birnbaum D, Bertucci F. Prognosis and gene expression profiling of 20q13-amplified breast cancers. Clin Cancer Res. 2006 Aug 1;12(15):4533-44. PMID: 16899599

- Weiss MM, Snijders AM, Kuipers EJ, Ylstra B, Pinkel D, Meuwissen SG, van Diest PJ, Albertson DG, Meijer GA. Determination of amplicon boundaries at 20q13.2 in tissue samples of human gastric adenocarcinomas by high-resolution microarray comparative genomic hybridization. J Pathol. 2003 Jul;200(3):320-6. PMID: 12845628

- Collins, C.; Rommens, J. M.; Kowbel, D.; Godfrey, T.; Tanner, M.; Hwang, S.; Polikoff, D.; Nonet, G.; Cochran, J.; Myambo, K.; Jay, K. E.; Froula, J.; Cloutier, T.; Kuo, W.-L.; Yaswen, P.; Dairkee, S.; Giovanola, J.; Hutchinson, G. B.; Isola, J.; Kallioniemi, O.-P.; Palazzolo, M.; Martin, C.; Ericsson, C.; Pinkel, D.; Albertson, D.; Li, W.-B.; Gray, J. W. : Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma. Proc. Nat. Acad. Sci. 95: 8703-8708, 1998. PubMed ID : 9671742

- Isola, J. J.; Kallioniemi, O. P.; Chu, L. W.; Fuqua, S. A.; Hilsenbeck, S. G.; Osborne, C. K.; Waldman, F. M. : Genetic aberrations detected by comparative genomic hybridization predict outcome in node-negative breast cancer. Am. J. Path. 147: 905-911, 1995. PubMed ID : 7573366

- Kallioniemi, A.; Kallioniemi, O. P.; Piper, J.; Tanner, M.; Stokke, T.; Chen, L.; Smith, H. S.; Pinkel, D.; Gray, J. W.; Waldman, F. M. : Detection and mapping of amplified DNA sequences in breast cancer by comparative genomic hybridization. Proc. Nat. Acad. Sci. 91: 2156-2160, 1994. PubMed ID : 8134364