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dc.contributor.authorIslam, Farhadul
dc.contributor.authorGopalan, Vinod
dc.contributor.authorWahab, Riajul
dc.contributor.authorLee, Katherine Ting-wei
dc.contributor.authorHaque, Md Hakimul
dc.contributor.authorMamoori, Afraa
dc.contributor.authorLu, Cu-tai
dc.contributor.authorSmith, Robert A
dc.contributor.authorLam, Alfred K-Y
dc.date.accessioned2017-08-07T00:39:26Z
dc.date.available2017-08-07T00:39:26Z
dc.date.issued2017
dc.identifier.issn0340-6717
dc.identifier.doi10.1007/s00439-017-1760-4
dc.identifier.urihttp://hdl.handle.net/10072/343054
dc.description.abstractFAM134B is a putative tumour suppressor gene and no mutations in FAM134B have been reported in colorectal cancer (CRC) to date. This study aims to identify FAM134B mutation sites and the clinicopathological significance of the gene in patients with CRC. Eighty-eight colorectal cancers were studied for FAM134B mutations by Sanger sequencing. The mutations in these cancers were then tested for correlations with the clinical and pathological parameters of the studied cancers. In addition, mRNA and protein expression of FAM134B in colorectal cancers was examined by polymerase chain reaction, Western blots, and immunofluorescence analysis. FAM134B mutation was noted in 46.5% (41/88) of patients with CRC. Thirty-one novel potentially pathogenic mutations were noted in coding and intronic regions of FAM134B in CRC, the majority of which were single-nucleotide substitutions. Of the 31 mutations, eight novel frameshift mutations showed potential to cause non-sense-mediated mRNA decay (NMD) in computational analysis. In addition, FAM134B mutations were associated with various clinical and pathological variables, including sex of the patients, presence of metachronous cancer, size, T staging, presence of distant metastases, and positivity of microsatellite instability (MSI) in the cancer (p < 0.05). FAM134B mRNA and protein expression was decreased in FAM134B mutated cancers. To conclude, FAM134B mutation is common in colorectal cancer. The association of the mutation of this gene with adverse clinical and pathological parameters is congruent with the tumour suppressive properties of the gene.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherSpringer Verlag
dc.relation.ispartofpagefrom321
dc.relation.ispartofpageto337
dc.relation.ispartofissue3
dc.relation.ispartofjournalHuman genetics
dc.relation.ispartofvolume136
dc.subject.fieldofresearchGenetics
dc.subject.fieldofresearchGenetics not elsewhere classified
dc.subject.fieldofresearchTraditional, complementary and integrative medicine
dc.subject.fieldofresearchReproductive medicine
dc.subject.fieldofresearchcode3105
dc.subject.fieldofresearchcode310599
dc.subject.fieldofresearchcode4208
dc.subject.fieldofresearchcode3215
dc.titleNovel FAM134B mutations and their clinicopathological significance in colorectal cancer
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
dc.description.versionAccepted Manuscript (AM)
gro.facultyGriffith Health, School of Medicine
gro.rights.copyright© 2017 Springer Berlin/Heidelberg. This is an electronic version of an article published in Human Genetics, Volume 136, Issue 3, pp 321–337. Human Genetics is available online at: http://link.springer.com/ with the open URL of your article.
gro.hasfulltextFull Text
gro.griffith.authorLam, Alfred K.
gro.griffith.authorGopalan, Vinod
gro.griffith.authorIslam, Farhad


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