Abstract:
AIMS:Surviving under a stressful environment may be a real challenge. Individuals (and their offspring) with accumulated genetic variation in their DNA repair genes may have a higher probability to survive under these conditions. A partially unstable DNA repair system raises the mutagenesis rate and the probability for an advantageous mutation to appear. This can also explain the high incidence of specific types of cancer today. The aim of this study was to find evidence for this phenomenon in humans, trying in this way to explain the cancer rates that differ worldwide and especially the breast and colon cancer ones. RESULTS:The last ice age (last glacial maximum) is probably the most recent example of extreme environmental conditions that existed in many regions of our planet. Careful comparison of the last ice age Earth map with the cancer incidence maps of the GLOBOCAN project revealed a high similarity. Human populations that survived in those regions may indeed have a partially defective DNA repair system. Adding on to this observation, an evolutionary model is proposed here for how populations escape extinction, where cancer may have been increased in modern humans due to an evolutionary site effect. CONCLUSION:A novel explanation is proposed for the high cancer incidence in specific geographic regions, based on epidemiological observations and on the assumption for unstable DNA repair in ancestral individuals.
journal_name
Genet Test Mol Biomarkersjournal_title
Genetic testing and molecular biomarkersauthors
Voskarides Kdoi
10.1089/gtmb.2014.0053subject
Has Abstractpub_date
2014-08-01 00:00:00pages
533-7issue
8eissn
1945-0265issn
1945-0257journal_volume
18pub_type
杂志文章abstract:: Aims: Pathogenic variants in mitochondrial DNA are known to be associated with sensorineural hearing loss (SNHL) and aminoglycoside-induced HL. Among them, the m.1555A>G mutation is the most common. Thus, a rapid and easy companion diagnostic method for this mutation would...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,随机对照试验
doi:10.1089/gtmb.2020.0105
更新日期:2021-01-01 00:00:00
abstract::The single-nucleotide polymorphisms (SNPs) of the Mina gene in animals are associated with the development of Th2-mediated diseases. However, there is no information whether the association occurs in humans. This case-control study aimed at examining the potential association of the SNP of the Mina gene with the devel...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2010.0240
更新日期:2011-07-01 00:00:00
abstract:AIM:To assess the use of mitochondrial DNA (mtDNA) content as a noninvasive molecular biomarker in hepatitis C virus-related hepatocellular carcinoma (HCV-HCC). MATERIALS AND METHODS:A total of 135 participants were enrolled in the study. Equal numbers of subjects were enrolled in each of three clinically defined grou...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2015.0132
更新日期:2015-11-01 00:00:00
abstract:PURPOSE:We describe a real-time polymerase chain reaction (PCR) protocol based on the fluorescent molecule SYBR Green chemistry, for a low- to medium-throughput analysis of Y-chromosome microdeletions, optimized according to the European guidelines and aimed at making the protocol faster, avoiding post-PCR processing, ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0220
更新日期:2012-12-01 00:00:00
abstract::Next-generation sequencing has changed the face of cancer immunotherapy research by making tumor-specific cancer vaccines a reality. Whole exome sequencing and RNA sequencing combined with bioinformatic pipelines allow the prediction of neoantigen targets for cancer vaccines. In this review, we discuss the preclinical...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,评审
doi:10.1089/gtmb.2018.0211
更新日期:2020-02-01 00:00:00
abstract:OBJECTIVE:Diabetic nephropathy (DN) is a serious complication of diabetes mellitus. We aimed to evaluate the interleukin (IL)-6 gene polymorphisms in type 2 DN and control subjects. MATERIALS AND METHODS:The patients selected from the Department of Endocrinology and Metabolism Diseases included 43 type 2 diabetes mell...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2013.0357
更新日期:2014-01-01 00:00:00
abstract:UNLABELLED:Previous studies suggest that the MDM2 gene is one of the most important candidate genes for influencing the risk of osteosarcoma. This study aims to investigate the potential association of MDM2 c.346G>A genetic variant with the risk of osteosarcoma in Chinese. A total of 738 subjects were recruited in this...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0260
更新日期:2015-02-01 00:00:00
abstract::β-Thalassemia is one of the most prevalent inherited diseases in China. To date, over 20 β-thalassemia mutations have been identified in the Chinese population, and four mutations [CD41-42 (-4 bp), IVS-2-654C→T, CD17A→T, and -28A→G] account for approximately 90% of the cases. Therefore, the exploration of simple, reli...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2010.0048
更新日期:2010-12-01 00:00:00
abstract:: Aims: To determine the clinical characteristics and genetic cause of Waardenburg syndrome type 1 (WS1) in a Chinese family. Materials and Methods: Evaluations, including history, clinical features, and audiological tests, were ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2019.0231
更新日期:2020-05-01 00:00:00
abstract::Founder mutations, particularly 35delG in the GJB2 gene, have to a large extent contributed to the high frequency of autosomal recessive nonsyndromic hearing loss (ARNSHL). Mutations in transmembrane channel-like gene 1 (TMC1) cause ARNSHL. The p.R34X mutation is the most frequent known mutation in the TMC1 gene. To s...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2009.0174
更新日期:2010-06-01 00:00:00
abstract:BACKGROUND:Previous studies have found an association between the SNP rs143383 + 104T/C in the growth differentiation factor 5 (GDF5) gene and the risk of developing knee osteoarthritis (KOA) in various populations worldwide. OBJECTIVE:To discover if there is an association between the SNP rs143383 + 104T/C, in the GD...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2018.0142
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:To investigate the correlations between three vascular endothelial growth factor 2 (VEGFR2) gene polymorphisms, +1192C>T, +1719T>A, and -604T>C, and deep venous thrombosis (DVT) in Chinese Han population. METHODS:We conducted a case-control study, between September 2009 and September 2012, in a Chinese Han p...
journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章
doi:10.1089/gtmb.2015.0129
更新日期:2015-12-01 00:00:00
abstract:BACKGROUND:Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant inherited disease. This study was carried out to investigate the genetic and functional changes within the FOXL2 gene in two Chinese families with BPES. MATERIALS AND METHODS:DNA was extracted from the peripheral blood ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2018.0064
更新日期:2018-10-01 00:00:00
abstract:AIM:The present study was undertaken to investigate a length polymorphism of (GT)n repeats of the heme oxygenase-1 (HMOX-1) gene and its association with serum bilirubin levels in apparently healthy adults. METHODS:A total of 211 individuals (normal hematology and liver function test) with bilirubin levels of 1.7 to 2...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2010.0132
更新日期:2011-04-01 00:00:00
abstract:BACKGROUND:Cytokines are a group of polypeptides with an important role in the inflammatory response. It has been suggested that certain polymorphisms located in several cytokine genes are associated with different diseases. The aim of the present study was to establish the gene frequency of 13 polymorphisms of the IL-...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0100
更新日期:2012-10-01 00:00:00
abstract:: Aims: The aim of this study was to examine the RNA and protein expression levels and clinical significance of the pore membrane protein 121 kDa (POM121) in lung cancer. Materials and Methods: Paired lung cancer and adjacent non...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2020.0053
更新日期:2020-12-01 00:00:00
abstract:AIMS:TPOX triallelic genotypic pattern has been described in the setting of forensic and paternity testing but not in bone marrow transplantation (BMT) monitoring for graft engraftment. MATERIALS AND METHODS:A total of 50 cases have been studied using the AmpFLSTR(®) Identifiler™ polymerase chain reaction amplificatio...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0311
更新日期:2015-05-01 00:00:00
abstract:: Objective: Pancreatic cancer (PC) is a serious disease with poor outcomes, and its prevalence has been increasing steadily. The circadian rhythm (CR) is involved in multiple physiological events and maintains homeostasis. Alterations in the CR elevate the risk of developin...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2020.0179
更新日期:2020-12-29 00:00:00
abstract::Polymorphisms in DNA repair genes may be associated with differences in the repair efficiency of DNA damage and may influence an individual's risk of atherosclerosis. Genetic research on coronary artery disease (CAD) has traditionally focused on investigation aimed at identifying disease-susceptibility genes. The aim ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0383
更新日期:2013-04-01 00:00:00
abstract:AIMS:The dopaminergic and endocannabinoid systems are involved in regulation of feeding behavior. The aim of the study is to examine the possible relation between polymorphisms of the dopamine D2 receptor (DRD2) and cannabinoid receptor-1 (CNR1) genes and childhood obesity. METHODS:A hundred obese children and 100 hea...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0244
更新日期:2012-12-01 00:00:00
abstract:: Aims: Circadian rhythm genes including Period 3 (Per3) are associated with major depressive disorder (MDD) and have an effect on the patient's response to selective serotonin reuptake inhibitor (SSRI) antidepressants. The aim of this study was to identify possible associat...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2019.0065
更新日期:2019-12-01 00:00:00
abstract:AIMS:To identify potential novel gene mutations in Chinese patients with dyschromatosis symmetrica hereditaria (DSH). METHODS:We enrolled 8 Chinese patients with familial DSH, 5 Chinese patients with sporadic DSH, and 100 randomly selected healthy individuals in this study. The genome of each participant was extracted...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2017.0207
更新日期:2018-02-01 00:00:00
abstract:OBJECTIVE:Essential hypertension is a multifactorial disease in which genetic and environmental factors play an important role. The renin-angiotensin system (RAS) is known to play a critical role in the homeostasis of blood pressure. Angiotensin-I converting enzyme (ACE) is a significant component of RAS, and an insert...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0155
更新日期:2012-03-01 00:00:00
abstract:BACKGROUND:Cytogenetic biomarkers are most frequently used well-established endpoints in human population studies with their sensitivity for measuring exposure to genotoxic agents. They have an important role as early predictors of cancer risk. Identification of individual genotypes of metabolic gene polymorphisms help...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0038
更新日期:2012-10-01 00:00:00
abstract::We studied the effect of five newly synthesized steroidal derivatives of nitrogen mustards. These derivatives have as alkylators either P-N, N-bis(2-chloroethyl)aminophenyl-butyrate (CHL) or P-N, N-bis(2-chloroethyl)aminophenyl-acetate (PHE) groups esterified with different modified steroidal nuclei. We examined them ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0234
更新日期:2012-06-01 00:00:00
abstract::Genes and their products involved in the biological pathways of human cancers have been studied as either targets of new therapies, or predictive markers for the sensitivity of or resistance to the therapies. Companion diagnostic testing on biological markers for targeted cancer therapies has become a vital component ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,评审
doi:10.1089/gtmb.2012.0510
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:Epigenetic alterations in the global DNA methylation status may be associated with an increased risk of some cancer types in humans. The methylenetetrahydrofolate reductase (MTHFR) gene is involved in folic acid metabolism and plays an essential role in inherited DNA methylation profiles. The common 677 C>T ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0347
更新日期:2012-07-01 00:00:00
abstract:AIMS:New sequencing technologies allow increased opportunities to use genomic-based diagnostic tests (genomic tests) in routine clinical practice, which will impact healthcare budgets and patients' outcomes. This article aims to generate a list of recommendations on how the principles and methods of cost-effectiveness ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,评审
doi:10.1089/gtmb.2017.0105
更新日期:2017-12-01 00:00:00
abstract:CONTEXT:Dravidians are the predominant population residing in South India with a diverse genetic structure. Considering various genetic discoveries taking place today, it is evident that deletions in the AZFc region are the most common cause of severe spermatogenic failure (SSF) in various populations studied. However,...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0251
更新日期:2015-03-01 00:00:00
abstract:AIMS:The etiology of infertility is still unknown in almost half of all male infertility patients. In sperm, DNA condensation differs from somatic and female gamete cells, with the protamine (PRM) gene and its transcription factor, Y-box binding protein 2 (YBX2), playing key roles in making the structure more compact. ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2017.0040
更新日期:2018-01-01 00:00:00