Hereditary mixed polyposis syndrome (HMPS) frequently leads to colorectal carcinoma. Copy number analyses in the chromosomal region thought to harbour the causal genetic lesion identified a 40 kb duplication — encompassing the 3′ end of the SCG5 gene and the region upstream of the gremlin 1 (GREM1) gene — in affected individuals. Tissue expression analyses indicated that the duplication causes GREM1 to be misexpressed in epithelial cells of colonic crypts. As GREM1 is an antagonist of bone morphogenetic protein (BMP) signalling this might explain the tumorigenic effects of the duplication.
ORIGINAL RESEARCH PAPER
Jaeger, E. et al. Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nature Genet. 6 May 2012 (doi:10.1038/ng.2263)
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Burgess, D. Mutation identified for an inherited cancer. Nat Rev Cancer 12, 377 (2012). https://doi.org/10.1038/nrc3289
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DOI: https://doi.org/10.1038/nrc3289