Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred
Article first published online: 22 APR 2005
Copyright © 2005 Wiley-Liss, Inc.
International Journal of Cancer
Volume 116, Issue 5, pages 808–812, 20 September 2005
How to Cite
Goldschmidt, N., Metzger, S., Wexler, I. D., Goldshmidt, O., Hershcovici, T. and Chajek-Shaul, T. (2005), Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred. Int. J. Cancer, 116: 808–812. doi: 10.1002/ijc.21077
- Issue published online: 20 JUL 2005
- Article first published online: 22 APR 2005
- Manuscript Accepted: 24 JAN 2005
- Manuscript Received: 4 SEP 2004
- hereditary hemorrhagic telangiectasia;
- hereditary nonpolyposis colorectal cancer;
- mismatch repair;
Endoglin (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. © 2005 Wiley-Liss, Inc.