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pubmed-article:15849752pubmed:abstractTextEndoglin (CD105) is a proliferation-associated protein that is strongly expressed in endothelial tissue and has a role in tumor angiogenesis. Mutations in endoglin are also linked to Hereditary Hemorrhagic Telangiectasia type 1 (HHT1), an autosomal dominant disease associated with aberrant angiogenesis. We report an unusual association of HHT1 and Hereditary Nonpolyposis Colorectal Cancer (HNPCC) in the same kindred. Genetic analysis indicates that these 2 syndromes are genetically unrelated and separately segregated within the family. The mutation in the endoglin gene leads to a truncated protein. The mutation in the mismatch repair gene MLH1 causes a splicing defect, giving synthesis to an unstable mRNA from this mutated allele. The potential protective role of an endoglin mutation in patients with HNPCC is discussed.lld:pubmed
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pubmed-article:15849752pubmed:copyrightInfo(c) 2005 Wiley-Liss, Inc.lld:pubmed
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pubmed-article:15849752pubmed:dateRevised2010-11-18lld:pubmed
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pubmed-article:15849752pubmed:articleTitleAssociation of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred.lld:pubmed
pubmed-article:15849752pubmed:affiliationDepartment of Medicine, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.lld:pubmed
pubmed-article:15849752pubmed:publicationTypeJournal Articlelld:pubmed