title: Familial colorectal cancer type X: genetic profiles and phenotypic features.
abstract: Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention.
authors.affiliation: 1] HNPCC-Register, Clinical Research Centre, Hvidovre Hospital, Copenhagen University, Copenhagen, Denmark [2] Institute of Clinical Sciences, Department of Oncology, Lund University, Lund, Sweden.
authors.forename: Mev
authors.initials: M
authors.lastname: Dominguez-Valentin
authors.affiliation: HNPCC-Register, Clinical Research Centre, Hvidovre Hospital, Copenhagen University, Copenhagen, Denmark.
authors.forename: Christina
authors.initials: C
authors.lastname: Therkildsen
authors.affiliation: Lady Davis Institute for Medical Research and Segal Cancer Centre, Sir Mortimer B. Davis-Jewish General Hospital, Department of Otolaryngology-Head and Neck Surgery, McGill University, Montreal, QC, Canada.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Da Silva
authors.affiliation: 1] HNPCC-Register, Clinical Research Centre, Hvidovre Hospital, Copenhagen University, Copenhagen, Denmark [2] Institute of Clinical Sciences, Department of Oncology, Lund University, Lund, Sweden.
authors.forename: Mef
authors.initials: M
authors.lastname: Nilbert
mesh_terms: D015179:Colorectal Neoplasms / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D010641:Phenotype
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