Abstract：
: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.
journal_name
Br J Cancerjournal_title
British journal of cancerauthors
Woodford-Richens KL,Halford S,Rowan A,Bevan S,Aaltonen LA,Wasan H,Bicknell D,Bodmer WF,Houlston RS,Tomlinson IPdoi
10.1054/bjoc.2001.1800subject
Has Abstractpub_date
2001-05-18 00:00:00pages
1314-6issue
10eissn
0007-0920issn
1532-1827pii
S0007092001918002journal_volume
84pub_type
杂志文章abstract：BACKGROUND:The arachidonic acid metabolite 12(S)-HETE is suspected to enhance metastatic spread by inducing cancer cell- and lymph endothelial cell (LEC) motility. However, the molecular mechanisms leading to 12(S)-HETE-triggered cell migration are still elusive. METHODS:To delineate the signalling pathways involved i...
journal_title：British journal of cancer
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journal_title：British journal of cancer
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pub_type： 杂志文章,多中心研究
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