Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X

Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis colorectal cancer with a yet undefined genetic background. Here we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX, using an integrative genomics strategy. C...

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Detalles Bibliográficos
Autores principales: Schulz, Eduard, Klampfl, Petra, Holzapfel, Stefanie, Janecke, Andreas R., Ulz, Peter, Renner, Wilfried, Kashofer, Karl, Nojima, Satoshi, Leitner, Anita, Zebisch, Armin, Wölfler, Albert, Hofer, Sybille, Gerger, Armin, Lax, Sigurd, Beham-Schmid, Christine, Steinke, Verena, Heitzer, Ellen, Geigl, Jochen B., Windpassinger, Christian, Hoefler, Gerald, Speicher, Michael R., Richard Boland, C., Kumanogoh, Atsushi, Sill, Heinz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Pub. Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214414/
https://www.ncbi.nlm.nih.gov/pubmed/25307848
http://dx.doi.org/10.1038/ncomms6191

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