Article
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
American journal of human genetics - 1 Oct 2001
Zhou X P, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer W F, Conrad B A, Dunlop M, Hodgson S V, Iwama T, Järvinen H, Kellokumpu I, Kim J C, Leggett B, Markie D, Mecklin J P, Neale K, Phillips R, Piris J, Rozen P, Houlston R S, Aaltonen L A, Tomlinson I P, Eng C
Abstract excerpt
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...
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