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Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred
Author(s) -
Goldschmidt Neta,
Metzger Shulamit,
Wexler Isaiah D.,
Goldshmidt Orit,
Hershcovici Tiberiu,
ChajekShaul Tova
Publication year - 2005
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.21077
Subject(s) - endoglin , mlh1 , colorectal cancer , cancer research , telangiectases , angiogenesis , acvrl1 , mutation , medicine , cancer , telangiectasia , pathology , biology , gene , genetics , dna mismatch repair , stem cell , cd34
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.