An investigation of the tylosis with oesophageal cancer (TOC) locus in Iranian patients with oesophageal squamous cell carcinoma

Shahabi, Maryam Shakur; Daloii, Mohammad Reza Noori; Langan, Joanne E.; Rowbottom, L; Jahanzad, Eisa; Khoshbin, Espeed; Taghikhani, Mohammad; Jk, Field; Risk, JM

doi:10.3892/ijo.25.2.389

Cited by 10 publications

(10 citation statements)

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“…Pajunen et al (1987Pajunen et al ( , 1988 assigned the gene to chromosome 17, specifically, 17q23 -q25. The chromosomal aberration of this region may be involved in carcinogenesis in the tylosis with oesophageal cancer (TOC) (Shahabi et al, 2004) and liver cancer (Midorikawa et al, 2004).…”

Section: Discussionmentioning

confidence: 99%

Aberrant expression of RAB1A in human tongue cancer

et al. 2005

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This study was designed to identify specific gene expression changes in tongue squamous cell carcinomas (TSCCs) compared with normal tissues using in-house cDNA microarray that comprised of 2304 full-length cDNAs from a cDNA library prepared from normal oral tissues, primary oral cancers, and oral cancer cell lines. The genes identified by our microarray system were further analysed at the mRNA or protein expression level in a series of clinical samples by real-time quantitative reverse transcriptasepolymerase chain reaction (qRT -PCR) analysis and imuunohositochemistry. The microarray analysis identified a total of 16 genes that were significantly upregulated in common among four TSCC specimens. Consistent with the results of the microarray, increased mRNA levels of selected genes with known molecular functions were found in the four TSCCs. Among genes identified, Rab1a, a member of the Ras oncogene family, was further analysed for its protein expression in 54 TSCCs and 13 premalignant lesions. We found a high prevalence of Rab1A-overexpression not only in TSCCs (98%) but also in premalignant lesions (93%). Thus, our results suggest that rapid characterisation of the target gene(s) for TSCCs can be accomplished using our in-house cDNA microarray analysis combined with the qRT -PCR and immunohistochemistry, and that the Rab1A is a potential biomarker of tongue carcinogenesis.

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Section: Discussionmentioning

confidence: 99%

Aberrant expression of RAB1A in human tongue cancer

et al. 2005

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“…In a cancer context, CYGB has been implicated as a TSG in familial tylosis with esophageal cancer and sporadic squamous cell esophageal carcinoma (23)(24)(25)(26), and there is preliminary evidence suggesting tumour suppressor activity of CYGB based on the observation of an inverse relationship between CYGB expression and colony formation in NSCLC and breast cancer cell lines (29). Recently, a CYGB knockout mouse has been generated and it was found that, upon exposure to N,N-diethylnitrosamine, CYGB-deficient mice were more susceptible to liver and lung cancer development, further supporting a role for this gene in cancer (78).…”

Section: Discussionmentioning

confidence: 99%

“…Of note, our candidate interval overlaps the familial tylosis with esophageal cancer locus (23). Although mutation analyses of RHBDF2 and CYGB did not identify any disease associated mutations, decreased expression of CYGB was observed in familial tylosis with esophageal cancer samples and cell lines derived from sporadic squamous cell esophageal carcinomas (23)(24)(25)(26). Further characterization of CYGB showed alterations in promoter CpG methylation in sporadic, but not familial tylosis with esophageal cancer (26).…”

Section: Introductionmentioning

confidence: 99%

Chromosome 17q25 genes, RHBDF2 and CYGB, in ovarian cancer

et al. 2012

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Abstract. It has been proposed that the frequent loss of heterozygosity (LOH) of an entire chromosome 17 contig in epithelial ovarian cancers (EOC) is the consequence of the inactivation of multiple tumour suppressor genes on this chromosome. We report the characterization of a 453 Kb 17q25 locus shown previously to exhibit a high frequency of LOH in EOC samples. LOH analysis further defined the minimal region of deletion to a 65 Kb interval flanked by D17S2239 and D17S2244, which contains RHBDF2, CYGB and PRCD as tumour suppressor gene candidates. Tissue specific expression excluded PRCD as a candidate. RHBDF2 was expressed at low levels in the majority of benign and low malignant potential (LMP) tumours, and in a subset of malignant ovarian tumour samples, as compared with primary cultures of normal ovarian surface epithelial cell (NOSE) samples. CYGB was expressed at low levels in the majority of LMP and malignant samples compared with benign and NOSE samples. In contrast to CYGB expression, RHBDF2 was expressed at low or undetectable levels in EOC cell lines exhibiting tumourigenic characteristics and up-regulated in a genetically modified EOC cell line rendered non-tumourigenic. DNA sequence analysis identified variants but no apparent deleterious mutations in either gene. Methylation-specific PCR analysis suggested that promoter methylation of CYGB but not RHBDF2 occurred in 6 of 31 malignant samples. The results combined suggest that RHBDF2 and CYGB may play distinctive roles in ovarian cancer and could be added to the growing roster of chromosome 17 genes implicated in this disease.

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“…The 17q25 TOC minimal region is subject to frequent allelic imbalance in sporadic oesophageal cancer and CYGB is dramatically downregulated in affected (non-malignant) tylotic oesophageal tissue compared with normal oesophagus . The mechanism of downregulation of CYGB in TOC is unclear, as no mutations have been identified in affected tissue (Shahabi et al, 2004), although there is evidence that CYGB promoter methylation may occur in sporadic oesophageal cancer and possibly also in ovarian cancer (Presneau et al, 2005).…”

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confidence: 99%

Cytoglobin is upregulated by tumour hypoxia and silenced by promoter hypermethylation in head and neck cancer

et al. 2009

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BACKGROUND: Cytoglobin (Cygb) was first described in 2002 as an intracellular globin of unknown function. We have previously shown the downregulation of cytoglobin as a key event in a familial cancer syndrome of the upper aerodigestive tract. METHOD: Cytoglobin expression and promoter methylation were investigated in sporadic head and neck squamous cell carcinoma (HNSCC) using a cross-section of clinical samples. Additionally, the putative mechanisms of Cygb expression in cancer were explored by subjecting HNSCC cell lines to hypoxic culture conditions and 5-aza-2-deoxycitidine treatment. RESULTS: In clinically derived HNSCC samples, CYGB mRNA expression showed a striking correlation with tumour hypoxia (measured by HIF1A mRNA expression P ¼ 0.013) and consistent associations with histopathological measures of tumour aggression. CYGB expression also showed a marked negative correlation with promoter methylation (P ¼ 0.018). In the HNSCC cell lines cultured under hypoxic conditions, a trend of increasing expression of both CYGB and HIF1A with progressive hypoxia was observed. Treatment with 5-aza-2-deoxycitidine dramatically increased CYGB expression in those cell lines with greater baseline promoter methylation. CONCLUSION: We conclude that the CYGB gene is regulated by both promoter methylation and tumour hypoxia in HNSCC and that increased expression of this gene correlates with clincopathological measures of a tumour's biological aggression.

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An investigation of the tylosis with oesophageal cancer (TOC) locus in Iranian patients with oesophageal squamous cell carcinoma

Cited by 10 publications

References 0 publications

Aberrant expression of RAB1A in human tongue cancer

Aberrant expression of RAB1A in human tongue cancer

Chromosome 17q25 genes, RHBDF2 and CYGB, in ovarian cancer

Cytoglobin is upregulated by tumour hypoxia and silenced by promoter hypermethylation in head and neck cancer

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