Susceptibility for breast cancer in young patients with short rare minisatellite alleles of BORIS

Yoon, Se-Lyun; Kim, Dae Cheol; Cho, Se Heon; Lee, Sangyeop; Chu, In-Sun; Heo, Jeonghoon; Leem, Sun‐Hee

doi:10.5483/bmbrep.2010.43.10.698

Cited by 14 publications

(13 citation statements)

References 25 publications

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“…To elucidate the regulation of BORIS during tumorigenesis, in a previous study, we characterized the entire genomic region of the BORIS locus including the promoter region in gastric cancer cells. 12 A CpG island (−1096 to −762 from the first ATG) and two minisatellites (variable number of tandem repeats; BORIS -MS1 and BORIS -MS2) were identified through the characterization of the genomic DNA sequence upstream of the gene-coding region. 12 In this study, we assessed the expression and methylation status of the BORIS gene in lung cancer tissues and re-analyzed the regulatory elements, that is, the CpG island and two minisatellites, in its promoter region to determine whether these elements are necessary for expression of a reporter gene in lung cancer cells.…”

Section: Introductionmentioning

confidence: 99%

“… 12 A CpG island (−1096 to −762 from the first ATG) and two minisatellites (variable number of tandem repeats; BORIS -MS1 and BORIS -MS2) were identified through the characterization of the genomic DNA sequence upstream of the gene-coding region. 12 In this study, we assessed the expression and methylation status of the BORIS gene in lung cancer tissues and re-analyzed the regulatory elements, that is, the CpG island and two minisatellites, in its promoter region to determine whether these elements are necessary for expression of a reporter gene in lung cancer cells. In addition, we described two well-positioned elements that contained the binding sequences for GATA-1 13 and the CCAAT box.…”

Section: Introductionmentioning

confidence: 99%

“…In addition, it is the fourth most common cancer in females worldwide, based on GLOBOCAN 2008 estimates, 15 and it is a major public health problem in Korea. Because some minisatellite alleles are associated with human diseases, 16 , 17 we investigated the relationship between cancer predisposition and minisatellite variants in BORIS 6 , 12 and revealed increased susceptibility in young patients with breast cancer containing short rare minisatellite alleles of BORIS -MS2. To determine whether allelic variation in BORIS minisatellites influences susceptibility to lung cancer, a case–control study was performed using a PCR-based method.…”

Section: Introductionmentioning

confidence: 99%

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A polymorphic minisatellite region of BORIS regulates gene expression and its rare variants correlate with lung cancer susceptibility

et al. 2016

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Aberrant expression of BORIS/CTCFL (Brother of the Regulator of Imprinted Sites/CTCF-like protein) is reported in different malignancies. In this study, we characterized the entire promoter region of BORIS/CTCFL, including the CpG islands, to assess the relationship between BORIS expression and lung cancer. To simplify the construction of luciferase reporter cassettes with various-sized portions of the upstream region, genomic copies of BORIS were isolated using TAR cloning technology. We analyzed three promoter blocks: the GATA/CCAAT box, the CpG islands and the minisatellite region BORIS-MS2. Polymorphic minisatellite sequences were isolated from genomic DNA prepared from the blood of controls and cases. Of the three promoter blocks, the GATA/CCAAT box was determined to be a critical element of the core promoter, while the CpG islands and the BORIS-MS2 minisatellite region were found to act as regulators. Interestingly, the polymorphic minisatellite region BORIS-MS2 was identified as a negative regulator that repressed the expression levels of luciferase reporter cassettes less effectively in cancer cells compared with normal cells. We also examined the association between the size of BORIS-MS2 and lung cancer in a case–control study with 590 controls and 206 lung cancer cases. Rare alleles of BORIS-MS2 were associated with a statistically significantly increased risk of lung cancer (odds ratio, 2.04; 95% confidence interval, 1.02–4.08; and P=0.039). To conclude, our data provide information on the organization of the BORIS promoter region and gene regulation in normal and cancer cells. In addition, we propose that specific alleles of the BORIS-MS2 region could be used to identify the risk for lung cancer.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A polymorphic minisatellite region of BORIS regulates gene expression and its rare variants correlate with lung cancer susceptibility

et al. 2016

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“…These conflicting findings are difficult to interpret due to a lack of knowledge about the roles of different BORIS isoforms, their potential interacting partners, and the genes they regulate or influence. Interestingly, the entire genomic region of the BORIS locus was studied recently and two minisatellite loci (BORIS-MS1 and BORIS-MS2) upstream of BORIS have been identified [45]. In addition, analyses of allelic variations in the minisatellites of BORIS were found to be significantly related to susceptibility to breast cancer in young patients within the Korean population studied [45].…”

Section: Introductionmentioning

confidence: 99%

“…Another strategy is to use BORIS based vaccine for prophylactic/preventive vaccination of healthy patients with genetic susceptibility to cancer. For example using breast cancer diagnostic biomarkers such as BRCA1 [60], BRCA2 [61], and BORIS -MS2 [45] one could identify the high risk population and potentially treat with preventative vaccination. Ultimately, antigen based immunotherapy approaches involving ideal target candidates such as BORIS guided by enhanced genetic analyses may be the future of cancer medicine and useful for the treatment of cancer of multiple origins.…”

Section: Introductionmentioning

confidence: 99%

Expression of the Epigenetic factor BORIS (CTCFL) in the Human Genome

et al. 2011

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BORIS, or CTCFL, the so called Brother of the Regulator of Imprinted Sites because of the extensive homology in the central DNA binding region of the protein to the related regulator, CTCF, is expressed in early gametogenesis and in multiple cancers but not in differentiated somatic cells. Thus it is a member of the cancer testes antigen group (CTAs). Since BORIS and CTCF target common DNA binding sites, these proteins function on two levels, the first level is their regulation via the methylation context of the DNA target site and the second level is their distinct and different epigenetic associations due to differences in the non-homologous termini of the proteins. The regulation on both of these levels is extensive and complex and the sphere of influence of each of these proteins is associated with vastly different cellular signaling processes. On the level of gene expression, BORIS has three known promoters and multiple spliced mRNAs which adds another level of complexity to this intriguing regulator. BORIS expression is observed in the majority of cancer tissues and cell lines analyzed up to today. The expression profile and essential role of BORIS in cancer make this molecule very attractive target for cancer immunotherapy. This review summarizes what is known about BORIS regarding its expression, structure, and function and then presents some theoretical considerations with respect to its genome wide influence and its potential for use as a vaccine for cancer immunotherapy.

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Association of MUC6-minisatellite variants with susceptibility to rectal carcinoma

et al. 2012

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A secreted MUC6 mucin is reported to be expressed highly in the stomach and gall bladder. In previous our study, the five minisatellites were identified and a significant association between MUC6-MS5 alleles and gastric cancer was reported. Because of aberrant MUC6 expression is often found in gastrointestinal diseases, we evaluated a relationship between MUC6-MS5 and susceptibility to colorectal cancers. Case-control study was performed with 1,103 cancer-free controls and 414 rectal cancer cases. A significant association (OR = 2.70) between short rare MUC6-MS5 alleles (7, 9 repeats) and the occurrence of cancer was observed in rectal cancer [95 % confidence interval (CI), 1.12-6.54; p = 0.022]. Furthermore, a comparison by gender showed the differences in the association ratios between rectal cancer and short rare MUC6-MS5 alleles: male, 3.97 (CI: 1.36-11.5; p = 0.006) versus female 0.91 (CI: 0.18-4.75; p = 0.913). We also examined the association according to lymphovascular invasion (LVI). The frequency of LVI positive rectal cancer was increased in short rare allele cases than in the total rectal cases: 16.2 % versus 42.9 %. Therefore, we suggest that the short rare MUC6-MS5 alleles may be related to cancer development in male and these cancer cases may be related the bad prognosis.

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Susceptibility for breast cancer in young patients with short rare minisatellite alleles of BORIS

Cited by 14 publications

References 25 publications

A polymorphic minisatellite region of BORIS regulates gene expression and its rare variants correlate with lung cancer susceptibility

A polymorphic minisatellite region of BORIS regulates gene expression and its rare variants correlate with lung cancer susceptibility

Expression of the Epigenetic factor BORIS (CTCFL) in the Human Genome

Association of MUC6-minisatellite variants with susceptibility to rectal carcinoma

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