The rs61764370 Functional Variant in the KRAS Oncogene is Associated with Chronic Myeloid Leukemia Risk in Women

Gutiérrez-Malacatt, Humberto; Ayala-Sánchez, Manuel; Aquino-Ortega, Xochitl; Dominguez-Rodriguez, Jacqueline; Martínez-Tovar, Adolfo; Olarte-Carrillo, Irma; Martínez‐Hernández, Angélica; C, Cecilia Contreras-Cubas; Orozco, Lorena; Córdova, Emilio J.

doi:10.7314/apjcp.2016.17.4.2265

Cited by 10 publications

(19 citation statements)

References 26 publications

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“…After duplicate removal and subsequent title and abstract assessment, 26 articles were left for further full-text review. Based on the inclusion and exclusion criteria, 19 articles remained [ 14 – 32 ]. One article containing data regarding various types of cancer was treated as independent studies [ 14 ], and there were seven articles containing studies of various BRCA1 polymorphisms [ 14 , 16 , 17 , 21 , 22 , 24 , 27 ].…”

Section: Resultsmentioning

confidence: 99%

“…The following information was extracted: name of first author, year of publication, country, cancer type, ethnicity, genotyping methods, source of controls, genotype distributions of cases and controls, and Hardy-Weinberg equilibrium (HWE) for controls. One of the studies only provides the percentage of each genotype, the complete data were obtained from the author [ 32 ].…”

Section: Methodsmentioning

confidence: 99%

“…Many studies have been conducted to examine the association between BRCA1 polymorphisms and the risk of various cancers, including breast cancer, ovarian cancer (OC), cervical cancer, ESCC, gastric cancer, chronic myeloid leukemia (CML), and NHL [ 14 – 32 ]; however, the results remain inconsistent or even contradictory. For example, Dunning et al found that rs799917 showed no significant association with breast cancer [ 14 ], while Nicoloso et al suggested that rs799917 increased the risk of breast cancer [ 23 ].…”

Section: Introductionmentioning

confidence: 99%

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The association between BRCA1 gene polymorphism and cancer risk: a meta-analysis

Zhao

Wang

et al. 2018

Oncotarget

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Many studies have reported that BRCA1 polymorphisms are associated with cancer risk, but the results remain controversial. The purpose of this meta-analysis is to evaluate the relationship between BRCA1 polymorphisms (rs799917, rs1799950, rs1799966, or rs16941) and cancer risk. Relevant studies were identified via a systematic search of the PubMed, Embase, and Web of Science databases up to July 31, 2017. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to examine the strength of the associations. Thirty-five studies published in 19 publications involving 28,094 cases and 50,657 controls were included in this meta-analysis. There was no obvious association between rs799917, rs1799966, or rs16941 polymorphisms and overall cancer risk in any genetic models. However, subgroup analyses revealed that the rs799917 polymorphism could decrease the risk of cervical cancer, esophageal squamous cell carcinoma (ESCC), gastric cancer, and non-Hodgkin lymphoma (NHL) among Asian populations in one or more genetic models and that rs16941 could increase overall cancer risk among Caucasian populations in the homozygote and recessive models. Our meta-analysis also indicated that rs1799950 could decrease the breast cancer (BC) risk among Caucasian populations in the homozygote and recessive models. In summary, our results suggest that BRCA1 polymorphisms may play an important role in the etiology of cancer. However, due to the limited number of studies, these findings should be confirmed by new studies with larger sample sizes that address various types of cancer.

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The association between BRCA1 gene polymorphism and cancer risk: a meta-analysis

Zhao

Wang

et al. 2018

Oncotarget

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“… 28 Moreover, there was no association with lung cancer, 24 chronic myeloid leukemia, and gastric cancer. 26 , 27 More interestingly, Yang et al found that a haplotype of the GEMIN4 gene including rs2740348 was associated with increased risk of bladder cancer. 31 In our present meta-analysis, we found that rs2740348 was significantly associated with increased risk of cancer in the general population under the recessive model (GG vs GC/CC), which agreed with the result reported by Zhu et al 35 However, this conclusion was only confirmed in a mixed population, but not in Asians and Caucasians.…”

Section: Discussionmentioning

confidence: 99%

Association of <em>GEMIN4</em> gene polymorphism and the risk of cancer: a meta-analysis

Zhang

Tian

et al. 2017

OTT

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Gem-associated protein 4 (GEMIN4) gene is a key regulator for the miRNA biogenesis processes. Recent studies have demonstrated that some single-nucleotide polymorphisms (SNPs) in GEMIN4 gene are associated with the risk of cancer, but the results are still controversial. Therefore, we conducted a meta-analysis to analyze the association between three major SNPs (rs2740348, rs7813, and rs3744741) in the GEMIN4 gene and the risk of cancer. Relevant articles were searched in Web of Science, PubMed, Cochrane Library, Chinese Wan Fang, and Chinese National Knowledge Infrastructure databases. Pooled odds ratio (OR) with 95% confidence interval (CI) was calculated to quantitatively estimate the association. Publication bias and sensitivity analyses were undertaken to evaluate the stability of the results. Overall, the pooled results showed that rs2740348 involving 3,604 cases and 3,770 controls was significantly associated with increased cancer risk (GG vs GC/CC: OR =1.16, 95% CI =1.05–1.29, P=0.004) and rs7813 involving 4,729 cases and 4,562 controls was also related to increased cancer risk (TT vs TC/CC: OR =1.12, 95% CI =1.03–1.22, P=0.009). However, there was no significant association between rs3744741 and cancer risk under overall genetic models. In conclusion, our study has demonstrated that rs2740348 and rs7813 are associated with increased risk of cancer, and they may be new biomarkers for predicting cancer risk.

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“…Uvirova et al found, in a Czech cohort, an association of this somatic variant across breast cancers, colorectal cancers, non-small cell lung cancers, and brain tumors [368]. In another study, the rs61764370 SNP was associated with a higher risk of chronic myeloid leukemia in Mexican-Mestizo women [129]. An indication of the role of HRAS polymorphisms in cancer susceptibility came from a study of an Italian gastric cancer cohort.…”

Section: Disparities At the Nuclear Genome Level And Their Role Inmentioning

confidence: 99%

Mitochondrial determinants of cancer health disparities

Choudhury

Singh

2017

Seminars in Cancer Biology

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Mitochondria are involved in the generation of energy, cell growth and differentiation, cellular signaling, cell cycle control, and cell death. To date, the mitochondrial basis of cancer disparities is unknown. The goal of this review is to provide an understanding and a framework of mitochondrial determinants that may contribute to cancer disparities in racially different populations. Mitochondria, which are multi-functional, have been implicated in the initiation and progression of cancers in relation to metabolic alterations in transformed cells. Due to ethnic-based diversity, the mitochondrial genome (mtDNA) could be a basis for inherited racial disparities and for acquired somatic mutations during tumorigenesis. In African Americans, several germline, population-specific haplotype variants in mtDNA as well as depletion of mtDNA have been linked to cancer predisposition and cancer disparities. Indeed, depletion of mtDNA and mutations in mtDNA or nuclear genome (nDNA)-encoded mitochondrial proteins lead to mitochondrial dysfunction and promote resistance to apoptosis, the epithelial-to-mesenchymal transition, and metastatic disease, which in turn can contribute to cancer disparity and tumor aggressiveness related to racial disparities. Ethnic differences at the level of expression or genetic variations in nDNA encoding the mitochondrial proteome, including mitochondria-localized mtDNA replication and repair proteins, miRNA, transcription factors, kinases and phosphatases, and tumor suppressors and oncogenes may underlie susceptibility to high-risk and aggressive cancers found in African Americans and other ethnicities. The mitochondrial retrograde signaling that alters the expression profile of nuclear genes in response to dysfunctional mitochondria is a mechanism for tumorigenesis. In ethnic populations, differences in mitochondrial function may alter the cross talk between mitochondria and the nucleus at epigenetic and genetic levels, which can also contribute to cancer health disparities. Targeting mitochondrial determinants and mitochondrial retrograde signaling could provide a promising strategy for the development of selective anticancer therapy for dealing with cancer disparities. Further, agents that restore mitochondrial function to optimal levels should permit sensitivity to anticancer agents for the treatment of aggressive tumors that occur in racially diverse populations and hence help in reducing racial disparities.

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The rs61764370 Functional Variant in the KRAS Oncogene is Associated with Chronic Myeloid Leukemia Risk in Women

Cited by 10 publications

References 26 publications

The association between BRCA1 gene polymorphism and cancer risk: a meta-analysis

The association between BRCA1 gene polymorphism and cancer risk: a meta-analysis

Association of <em>GEMIN4</em> gene polymorphism and the risk of cancer: a meta-analysis

Mitochondrial determinants of cancer health disparities

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