| Literature DB >> 12089527 |
Claudia A L Ruivenkamp1, Tom van Wezel, Carlo Zanon, Alphons P M Stassen, Cestmir Vlcek, Tamás Csikós, Anita M Klous, Nikos Tripodis, Anastassis Perrakis, Lucie Boerrigter, Peter C Groot, Jan Lindeman, Wolter J Mooi, Gerrit A Meijjer, Gert Scholten, Hans Dauwerse, Vaclav Paces, Nico van Zandwijk, Gert Jan B van Ommen, Peter Demant.
Abstract
Only a small proportion of cancers result from familial cancer syndromes with Mendelian inheritance. Nonfamilial, 'sporadic' cancers, which represent most cancer cases, also have a significant hereditary component, but the genes involved have low penetrance and are extremely difficult to detect. Therefore, mapping and cloning of quantitative trait loci (QTLs) for cancer susceptibility in animals could help identify homologous genes in humans. Several cancer-susceptibility QTLs have been mapped in mice and rats, but none have been cloned so far. Here we report the positional cloning of the mouse gene Scc1 (Susceptibility to colon cancer 1) and the identification of Ptprj, encoding a receptor-type protein tyrosine phosphatase, as the underlying gene. In human colon, lung and breast cancers, we show frequent deletion of PTPRJ, allelic imbalance in loss of heterozygosity (LOH) and missense mutations. Our data suggest that PTPRJ is relevant to the development of several different human cancers.Entities:
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Year: 2002 PMID： 12089527 DOI： 10.1038/ng903
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330