Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Frengen, E. et al.

High-resolution integrated map encompassing the breast cancer loss of heterozygosity region on human chromosome 16q22.1.

Loss of heterozygosity (LOH) on the long arm of human chromosome 16 is a common genetic alteration observed in both invasive ductal and invasive lobular breast carcinomas. We have generated a high-resolution integrated map encompassing the smallest region of LOH overlap within chromosome 16q22.1 (SRO2). Southern hybridization experiments using more than 140 probes resulted in the assembly of 152 bacterial large-insert clones into a 2.8-Mb contig covering SRO2. The structure of the contig was verified by long-range mapping using total human genomic DNA, and the contig orientation was determined by fluorescence in situ hybridization. A total of 68 transcripts have been identified in the map. One of the genes residing within SRO2 is the E-cadherin gene, CDH1, which has previously been shown to be mutated in lobular breast carcinomas, resulting in loss of E-cadherin expression. In most cases of ductal carcinoma, which is the major mammary cancer type, E-cadherin is normally expressed, suggesting that other genes within 16q22.1 are involved in the development of this tumor subtype. The high-resolution map presented in this study provides a valuable resource for identification of tumor suppressor genes expected to be involved in the etiology of breast carcinomas.[1]

References

High-resolution integrated map encompassing the breast cancer loss of heterozygosity region on human chromosome 16q22.1. Frengen, E., Rocca-Serra, P., Shaposhnikov, S., Taine, L., Thorsen, J., Bepoldin, C., Krekling, M., Lafon, D., Aas, K.K., El Monéim, A.A., Johansen, H., Longy, M., Prydz, H., Dorion-Bonnet, F. Genomics (2000) [Pubmed]

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