Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA; CRC Human Cancer Genetics Research Group, University of Cambridge, Cambridge CB2 2QQ, United Kingdom. eng-1@medctr.osu.edu
Three years after MADH4 (also known as SMAD4) was identified as a gene critical to juvenile polyposis, BMPR1A, encoding a receptor in the same pathway, has been identified as another susceptibility gene. The TGF/BMP superfamily of molecules has not only been shown to be defective in neoplasia but also in the non-cancer developmental syndromes primary pulmonary hypertension and hereditary hemorrhagic telangiectasia.