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Peutz-Jeghers syndrome (PJS) and juvenile polyposis (JPS) are both characterized by the presence of hamartomatous polyps and increased risk of malignancy in the gastrointestinal tract. Mutations of the LKB1 and SMAD4 genes have been shown recently to cause a number of PJS and JPS cases respectively, but there remains considerable uncharacterized genetic heterogeneity in these syndromes, particularly JPS. The mouse homologue of CDX2 has been shown to give rise to a phenotype which includes hamartomatous-like polyps in the colon and is therefore a good candidate for JPS and PJS cases which are not accounted for by the SMAD4 and LKB1 genes. By analogy with SMAD4, CDX2 is also a candidate for somatic mutation in sporadic colorectal cancer. We have screened 37 JPS families/cases without known SMAD4 mutations, 10 Peutz-Jeghers cases without known LKB1 mutations and 49 sporadic colorectal cancers for mutations in CDX2. Although polymorphic variants and rare variants of unlikely significance were detected, no pathogenic CDX2 mutations were found in any case of JPS or PJS, or in any of the sporadic cancers.

Original publication




Journal article


Br J Cancer

Publication Date





1314 - 1316


AMP-Activated Protein Kinase Kinases, AMP-Activated Protein Kinases, Adenomatous Polyposis Coli, Animals, CDX2 Transcription Factor, Colorectal Neoplasms, DNA-Binding Proteins, Exons, Genes, Tumor Suppressor, Genetic Carrier Screening, Homeodomain Proteins, Homozygote, Humans, Mice, Mutation, Missense, Peutz-Jeghers Syndrome, Polymorphism, Genetic, Polymorphism, Single-Stranded Conformational, Protein Serine-Threonine Kinases, Smad4 Protein, Trans-Activators, Tumor Cells, Cultured