Ontology highlight
ABSTRACT:
SUBMITTER: Zhou XP
PROVIDER: S-EPMC1226057 | biostudies-literature | 2001 Oct
REPOSITORIES: biostudies-literature
Zhou X P XP Woodford-Richens K K Lehtonen R R Kurose K K Aldred M M Hampel H H Launonen V V Virta S S Pilarski R R Salovaara R R Bodmer W F WF Conrad B A BA Dunlop M M Hodgson S V SV Iwama T T Järvinen H H Kellokumpu I I Kim J C JC Leggett B B Markie D D Mecklin J P JP Neale K K Phillips R R Piris J J Rozen P P Houlston R S RS Aaltonen L A LA Tomlinson I P IP Eng C C
American journal of human genetics 20010830 4
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 proband ...[more]