Relationship of an hRAD54 gene polymorphism (2290 C/T) in an Ecuadorian population with chronic myelogenous leukemia

Paz‐y‐Miño, César; López‐Cortés, Andrés; Muñoz, María José; Castro, Bernardo; Cabrera, Alejandro; Sánchez, María Eugenia

doi:10.1590/s1415-47572010005000095

Cited by 8 publications

(4 citation statements)

References 20 publications

(22 reference statements)

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“…In conclusion, this study as well as our previous genetic studies on MTHFR in prostate cancer [17], EGFR in lung cancer [46], GPX-1 in bladder cancer [47], and hRAD5 in chronic myelogenous leukemia are important contributions in order to integrate pharmacogenetics and pharmacogenomics in clinical practice in Ecuador and Latin America [48,49].…”

Section: Discussionmentioning

confidence: 61%

Breast cancer risk associated with gene expression and genotype polymorphisms of the folate-metabolizing MTHFR gene: a case-control study in a high altitude Ecuadorian mestizo population

et al. 2015

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Breast cancer (BC) is the leading cause of cancer-related death among women in 2014. Methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and MTR reductase (MTRR) are enzymes that play an important role in folate metabolism. The single nucleotide polymorphisms, MTHFR C677T, A1298C, MTR A2756G, and MTRR A66G, alter plasmatic folate and homocysteine concentrations, causing problems during the repairment, synthesis, and methylation of the genetic material. Therefore, it is essential to know how BC risk is associated with histopathological and immunohistochemical characteristics, genotype polymorphisms, and gene expression in a high altitude Ecuadorian mestizo population. DNA was extracted from 195 healthy and 114 affected women. Genotypes were determined by restriction enzymes and genomic sequencing. mRNA was extracted from 26 glandular breast tissue samples, both from cancerous tissue and healthy tissue adjacent to the tumor. Relative gene expression was determined with the comparative Livak method (2(-ΔΔCT)). We found significant association between the rs1801133 (A222V) genotypes and an increased risk of BC development: C/T (odds ratio [OR] = 1.8; 95 % confidence interval [CI] = 1.1-3.2; P = 0.039), T/T (OR = 2.9; 95 % CI = 1.2-7.2; P = 0.025), and C/T + T/T (OR = 1.9; 95 % CI = 1.1-3.3; P = 0.019). Regarding relative gene expression, we found significant mRNA subexpression between the combined genotypes C/T + T/T (rs1801133) and triple negative breast cancer (TNBC) (P = 0.034). In brief, the MTHFR gene and its protein could act as potential predictive biomarkers of BC, especially TNBC among the high altitude Ecuadorian mestizo population.

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Section: Discussionmentioning

confidence: 61%

Breast cancer risk associated with gene expression and genotype polymorphisms of the folate-metabolizing MTHFR gene: a case-control study in a high altitude Ecuadorian mestizo population

et al. 2015

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“…The pathway that repairs such damages is homologous recombination to which the RAD54 and XRCC3 genes belong. As for the RAD54 gene, according to Paz-y-Miño et al (2010), a statistically significant association was found between frequencies calculated for the subgroup with chronic myelogenous leukemia (0.14), in contrast with the control group [49]. Concerning meningioma, an association between the T allele and the development of meningioma tumor (p < 0.05) was found [20].…”

Section: Discussionmentioning

confidence: 95%

Evaluation of the ERCC2 (Lys751Gln), MSH2 (gIVS12-6TC), RAD54 (Ala730Ala), XPC (Lys939Gln), XPG (Asp1104Hist), XRCC1 (Arg399Gln) and XRCC3 (Thr241Met) gene polymorphisms in the Ecuadorian population with retinoblastoma

Leone¹,

Guevara-Ramírez²,

Quevedo³

et al. 2019

Preprint

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Background Retinoblastoma is a neoplasia that starts in the retina and may have inheritable or sporadic genetic predisposition. This affects children, mainly those who are under 5 years old. Approximately 9,000 new cases are diagnosed per year worldwide. In Ecuador this disease has an incidence of 1 per each 20,000 live births. The genetic predisposition to develop retinoblastoma is strongly influenced by RB1 gene, and may be influenced by the presence of genetic polymorphisms which intervene in the DNA repair system. Methods This study has analyzed the genotype frequency of ERCC2 (Lys751Gln), MSH2 (gIVS12-6TC), RAD54 (Ala730Ala), XPC (Lys939Gln), XPG (Asp1104Hist), XRCC1 (Arg399Gln), and XRCC3 (Thr241Met) polymorphisms of different repair genes, genotyping 90 individuals affected with retinoblastoma and 80 healthy individuals through polymerase chain reaction / restriction fragments length polymorphism and sequencing analysis. Results The presence of the (C/C) mutant homozygous genotype of XPC (Lys939Gln) polymorphism triggers a significant risk of developing retinoblastoma with an odds ratio (OR) of 3 (CI: 1.22-9.84; p < 0.05). Likewise, the A/G heterozygous genotype and the combination A/G+G/G of XRCC1 (Arg399Gln) polymorphism presented ORs of 9.7 (CI: 4.45-21.08; p < 0.001) and 7.55 (IC: 3.57-16; p < 0.001), respectively. Conclusions The genetic variants XPC (Lys939Gln) and XRCC1 (Arg399Gln) may be associated with the risk of developing retinoblastoma in the Ecuadorian population.

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“…Ecuador has 500 years of history of a mixture between mainly Native Amerindians and Spanish populations. It must also be considered that the differences in the frequency of the different transcripts can be the result of a different genetic component in the Ecuadorian population compared to other populations and that has been observed in studies, reported by our group, involving repair genes associated with NHL and CML [35,36]. FISH analysis and RT-PCR methods were used in cases which could not be resolved by conventional cytogenetics in order to obtain results that contribute to patients' diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic and Molecular Characterization of Hematological Neoplasm in an Ecuadorian Population

Paz‐y‐Miño¹,

Sánchez²,

Araujo³

et al. 2013

OJBD

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Cancer is one of the major causes of mortality in Ecuador and annually, hematological malignancies are within the top ten most common cancers. In this multicentric study, we analyzed a series of patients diagnosed with different hematological disorders between the years 1984 and 2012. Chromosome abnormalities were detected in 1886 (45.9%) patients. FISH and RT-PCR techniques were used in order to determine the presence of genetic rearrangements and complement conventional cytogenetics results. Using FISH and RT-PCR, positive cases were increased by 1.8% and 6.9% respectively. We analyzed fusion genes resulting from t(8;21), t(15;17), inv(16), t(9;22), 11q23 rearrangements, t(4;11) and t(1;19). The frequency of transcripts of some of these fusion genes was of particular interest as our results differ from studies on other populations. Specifically, the fusion gene BCR-ABL was present in the form of the b2/a2 transcript in 95% of CML patients and in the form of b3/a2 transcript in the remaining 5%. The PML-RARA fusion gene also showed a distinct pattern of transcript expression. This fusion gene exhibited the bcr2 (36%) and bcr3 (64%) transcripts, however the bcr1 transcript was absent from our sample population. All cases carrying the CBFB-MYH11 fusion gene exhibited the F transcript. This was also of interest due to the rarity of this particular transcript worldwide. Finally all cases carrying the MLL-AF4 fusion gene displayed the e7-e8 transcript. The frequency of the subtypes of some fusion genes differ from those reported in other populations, possibly due to the particular genetic make-up of the Ecuadorian population, mostly mestizo, as well as environmental factors.

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Relationship of an hRAD54 gene polymorphism (2290 C/T) in an Ecuadorian population with chronic myelogenous leukemia

Cited by 8 publications

References 20 publications

Breast cancer risk associated with gene expression and genotype polymorphisms of the folate-metabolizing MTHFR gene: a case-control study in a high altitude Ecuadorian mestizo population

Breast cancer risk associated with gene expression and genotype polymorphisms of the folate-metabolizing MTHFR gene: a case-control study in a high altitude Ecuadorian mestizo population

Evaluation of the ERCC2 (Lys751Gln), MSH2 (gIVS12-6TC), RAD54 (Ala730Ala), XPC (Lys939Gln), XPG (Asp1104Hist), XRCC1 (Arg399Gln) and XRCC3 (Thr241Met) gene polymorphisms in the Ecuadorian population with retinoblastoma

Cytogenetic and Molecular Characterization of Hematological Neoplasm in an Ecuadorian Population

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