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  • Novel FAM134B mutations and their clinicopathological significance in colorectal cancer

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    Author(s)
    Islam, Farhadul
    Gopalan, Vinod
    Wahab, Riajul
    Lee, Katherine Ting-wei
    Haque, Md Hakimul
    Mamoori, Afraa
    Lu, Cu-tai
    Smith, Robert A
    Lam, Alfred K-Y
    Griffith University Author(s)
    Lam, Alfred K.
    Gopalan, Vinod
    Islam, Farhad
    Year published
    2017
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    Abstract
    FAM134B 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 ...
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    FAM134B 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.
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    Journal Title
    Human genetics
    Volume
    136
    Issue
    3
    DOI
    https://doi.org/10.1007/s00439-017-1760-4
    Copyright Statement
    © 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.
    Subject
    Genetics
    Genetics not elsewhere classified
    Traditional, complementary and integrative medicine
    Publication URI
    http://hdl.handle.net/10072/343054
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    • Journal articles

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