Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

@article{Zhou2001GermlineMI,
  title={Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.},
  author={Xiao-ping Zhou and Kelly Woodford-Richens and Rainer Lehtonen and Keisuke Kurose and Micheala A Aldred and Heather Hampel and Virpi Launonen and Salli Virta and Robert T. Pilarski and Reijo Salovaara and Walter F. Bodmer and Bruce A. Conrad and Malcolm. W. Dunlop and Shirley Victoria Hodgson and Takeo Iwama and Heikki J{\"a}rvinen and Ilmo H Kellokumpu and Jin Cheon Kim and Barbara Leggett and David Markie and J. P. Mecklin and K. W. Neale and Robin Phillips and J. Piris and Paul Rozen and Richard S. Houlston and Lauri A. Aaltonen and Ian P. M. Tomlinson and Charis Eng},
  journal={American journal of human genetics},
  year={2001},
  volume={69 4},
  pages={704-11}
}
Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were identified, JPS could easily be confused with other inherited hamartoma syndromes, such as Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Cowden syndrome (CS). Germline mutations of MADH4 (SMAD4) have been described in a variable number of probands with JPS. A series of familial and isolated European… CONTINUE READING
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