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Nat Rev Genet. 2003 Oct;4(10):763-73.

From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.

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  • 1Human Cancer Genetics and Clinical Cancer Genetics Programs, Comprehensive Cancer Center, Division of Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University, Columbus, Ohio 43210, USA.


Transforming growth factor-beta (TGF-beta) regulates many cellular processes through complex signal-transduction pathways that have crucial roles in normal development. Disruption of these pathways can lead to a range of diseases, including cancer. Mutations in the genes that encode members of the TGF-beta pathway are involved in vascular diseases as well as gastrointestinal neoplasia. More recently, they have been implicated in Cowden syndrome, which is normally associated with mutations in the phosphatase and tensin homologue gene PTEN. Molecular studies of TGF-beta signalling are now showing why mutations in genes that encode components of this pathway result in inherited cancer and developmental diseases.

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