Abstract:In this study, we characterized two blocks of minisatellites in the 5' upstream region of the BORIS gene (BORIS-MS1, -MS2). BORIS-MS2 was found to be polymorphic; therefore, this locus could be useful as a marker for DNA fingerprinting. We assessed the association between BORIS-MS2 and breast cancer by a case-control study with 428 controls and 793 breast cancers cases. Rare alleles in the younger group (age, <40) were associated with a statistically significant increased risk of breast cancer (odds ratio, 4.8… Show more
“…Because of the abnormal expression of BORIS in several cancers, the regulation of its expression is of great interest. In our previous study, two minisatellites (BORIS-MS1 and BORIS-MS2) and a CpG island (À1096 to À762 from the first ATG) were identified through the characterization of genomic DNA sequence upstream of the gene (Yoon et al, 2010). Regulation by methylation in the CpG island might be a major mechanism of gene regulation (Woloszynska-Read et al, 2007).…”
BORIS is a member of the cancer-testis gene family that comprises genes normally expressed only in testis but abnormally activated in different malignancies. In this study, we examined the relation between BORIS expression and gastric cancer, which is the most common cancer in Korea. Abnormal BORIS expression in the patient's gastric cancer tissues was observed. We checked the methylation status of the gene in gastric cancer tissue, because the regulation by methylation in its CpG islands is well known for BORIS. However, there was no correlation between the methylation status and gene expression. Then, we focused on the minisatellites (variable number of tandem repeats) of BORIS as another possible regulator for this abnormal expression. Previously, we reported the characterization of BORIS-MS2 and determined the frequency of alleles in cancer patients. A case-control study was performed using DNA from 774 controls and 496 patients with gastric cancer. There was no significant difference observed in the overall distribution of minisatellite alleles. These results suggest that additional different regulators for the abnormal BORIS expression in gastric cancer may exist. Additionally, we performed a segregation analysis of BORIS-MS2 with genomic DNA obtained from two generations of five families and from three generations of two families. BORIS-MS2 alleles were transmitted through meiosis following Mendelian inheritance, which suggests that this polymorphic minisatellite could be a useful marker for paternity mapping and DNA fingerprinting.
“…Because of the abnormal expression of BORIS in several cancers, the regulation of its expression is of great interest. In our previous study, two minisatellites (BORIS-MS1 and BORIS-MS2) and a CpG island (À1096 to À762 from the first ATG) were identified through the characterization of genomic DNA sequence upstream of the gene (Yoon et al, 2010). Regulation by methylation in the CpG island might be a major mechanism of gene regulation (Woloszynska-Read et al, 2007).…”
BORIS is a member of the cancer-testis gene family that comprises genes normally expressed only in testis but abnormally activated in different malignancies. In this study, we examined the relation between BORIS expression and gastric cancer, which is the most common cancer in Korea. Abnormal BORIS expression in the patient's gastric cancer tissues was observed. We checked the methylation status of the gene in gastric cancer tissue, because the regulation by methylation in its CpG islands is well known for BORIS. However, there was no correlation between the methylation status and gene expression. Then, we focused on the minisatellites (variable number of tandem repeats) of BORIS as another possible regulator for this abnormal expression. Previously, we reported the characterization of BORIS-MS2 and determined the frequency of alleles in cancer patients. A case-control study was performed using DNA from 774 controls and 496 patients with gastric cancer. There was no significant difference observed in the overall distribution of minisatellite alleles. These results suggest that additional different regulators for the abnormal BORIS expression in gastric cancer may exist. Additionally, we performed a segregation analysis of BORIS-MS2 with genomic DNA obtained from two generations of five families and from three generations of two families. BORIS-MS2 alleles were transmitted through meiosis following Mendelian inheritance, which suggests that this polymorphic minisatellite could be a useful marker for paternity mapping and DNA fingerprinting.
“…And we characterized BORIS-MS2 as having seven alleles containing a different number of repeat units in 428 cancer-free females and 793 breast cancer cases. As a result of this case-control study, we found that the short rare alleles of BORIS-MS2 were correlated with a high risk of breast cancer in younger patients (age, < 40 years) (Yoon et al, 2010) BORIS, a member of the cancer-testis antigen family, shows abnormal expression patterns in various cancers including breast cancer (D'Arcy et al, 2008). Furthermore, a prostate carcinoma revealed modestly increased BORIS expression compared to normal tissues (Hoffmann et al, 2006).…”
Section: Discussionmentioning
confidence: 77%
“…Previously, we described an association between variation in minisatellite lengths and cancer predisposition (Leem et al, 2002;Leem et al, 2004;Jeong et al, 2007;Seol et al, 2008;Yoon et al, 2008;Lee et al, 2009;Kwon et al, 2010). In a recent study, we observed that rare alleles of BORIS-MS2 in the younger group (age, < 40 years) were associated with a statistically significant increased risk of breast cancer (Yoon et al, 2010). Moreover, Kaplan-Meier estimates showed that poor prognosis was correlated with the age of patients that contained the short rare alleles (Yoon et al, 2010).…”
Section: Introductionmentioning
confidence: 88%
“…In a recent study, we observed that rare alleles of BORIS-MS2 in the younger group (age, < 40 years) were associated with a statistically significant increased risk of breast cancer (Yoon et al, 2010). Moreover, Kaplan-Meier estimates showed that poor prognosis was correlated with the age of patients that contained the short rare alleles (Yoon et al, 2010). These data support the concept that biologically significant consequences could result from variations in a minisatellite locus and suggests a biological basis for some cancer predisposition and prognosis.…”
Section: Introductionmentioning
confidence: 93%
“…We identified one minisatellite (BORIS-MS2) in the promoter region of BORIS (Yoon et al, 2010). BORIS-MS2 (-2586 to -1812 upstream of the first ATG) is located nearby CpG island (-1096 to -762 upstream of the first ATG).…”
BORIS, a member of the cancer-testis antigen family with testis specific expression, showed abnormal expression in various cancer types including prostate cancer. In our previous work, we identified the polymorphic minisatellite, BORIS-MS2, located in the promoter region of BORIS. BORIS-MS2 was revealed as a polymorphic minisatellite that contains seven alleles each with different numbers of the repeat unit. We assessed the association between the allelic variation of BORIS-MS2 and prostate cancer by a case-control study. Using a PCR-based method, 315 cancer-free male controls and 648 cases with prostate cancer were genotyped. There was no significant difference observed in the overall distribution of this minisatellite, which indicates that this polymorphism is not responsible for prostate cancer susceptibility in the Korean population. Additionally, two new rare alleles (9 and 19 copies) were detected in this study, which were identified only in cancer subjects. When we compared the clinicopathological information with the Jewett-Whitmore system of prostate cancer classification, the frequency of rare allele cases in the higher grade was significantly higher than in the total prostate group (P = 0.032). The higher grades in the Jewett-Whitmore system were associated with a poor prognosis. Therefore, this result suggests that the rare alleles of BORIS-MS2 may be used as a marker of poor outcome in prostate cancer patients.
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