Biomolecular Concepts最新文献

{"title":"Acute toxicity of cyanide in aerobic respiration: Theoretical and experimental support for murburn explanation.","authors":"Kelath Murali Manoj, Surjith Ramasamy, Abhinav Parashar, Daniel Andrew Gideon, Vidhu Soman, Vivian David Jacob, Kannan Pakshirajan","doi":"10.1515/bmc-2020-0004","DOIUrl":"10.1515/bmc-2020-0004","url":null,"abstract":"<p><p>The inefficiency of cyanide/HCN (CN) binding with heme proteins (under physiological regimes) is demonstrated with an assessment of thermodynamics, kinetics, and inhibition constants. The acute onset of toxicity and CN's mg/Kg LD50 (μM lethal concentration) suggests that the classical hemeFe binding-based inhibition rationale is untenable to account for the toxicity of CN. In vitro mechanistic probing of CN-mediated inhibition of hemeFe reductionist systems was explored as a murburn model for mitochondrial oxidative phosphorylation (mOxPhos). The effect of CN in haloperoxidase catalyzed chlorine moiety transfer to small organics was considered as an analogous probe for phosphate group transfer in mOxPhos. Similarly, inclusion of CN in peroxidase-catalase mediated one-electron oxidation of small organics was used to explore electron transfer outcomes in mOxPhos, leading to water formation. The free energy correlations from a Hammett study and IC50/Hill slopes analyses and comparison with ligands ( CO/ H 2 S/ N 3 - ) $left( {text{CO}}/{{{{text{H}}_{2}}text{S}}/{text{N}_{3}^{text{-}}};}; right)$ provide insights into the involvement of diffusible radicals and proton-equilibriums, explaining analogous outcomes in mOxPhos chemistry. Further, we demonstrate that superoxide (diffusible reactive oxygen species, DROS) enables in vitro ATP synthesis from ADP+phosphate, and show that this reaction is inhibited by CN. Therefore, practically instantaneous CN ion-radical interactions with DROS in matrix catalytically disrupt mOxPhos, explaining the acute lethal effect of CN.</p>","PeriodicalId":38392,"journal":{"name":"Biomolecular Concepts","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10012329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Are the biomedical sciences ready for synthetic biology?","authors":"Maxwell S DeNies,&nbsp;Allen P Liu,&nbsp;Santiago Schnell","doi":"10.1515/bmc-2020-0003","DOIUrl":"https://doi.org/10.1515/bmc-2020-0003","url":null,"abstract":"<p><p>The ability to construct a functional system from its individual components is foundational to understanding how it works. Synthetic biology is a broad field that draws from principles of engineering and computer science to create new biological systems or parts with novel function. While this has drawn well-deserved acclaim within the biotechnology community, application of synthetic biology methodologies to study biological systems has potential to fundamentally change how biomedical research is conducted by providing researchers with improved experimental control. While the concepts behind synthetic biology are not new, we present evidence supporting why the current research environment is conducive for integration of synthetic biology approaches within biomedical research. In this perspective we explore the idea of synthetic biology as a discovery science research tool and provide examples of both top-down and bottom-up approaches that have already been used to answer important physiology questions at both the organismal and molecular level.</p>","PeriodicalId":38392,"journal":{"name":"Biomolecular Concepts","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/bmc-2020-0003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37579265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Murburn concept: a paradigm shift in cellular metabolism and physiology.","authors":"Kelath Murali Manoj","doi":"10.1515/bmc-2020-0002","DOIUrl":"https://doi.org/10.1515/bmc-2020-0002","url":null,"abstract":"<p><p>Two decades of evidence-based exploratory pursuits in heme-flavin enzymology led to the formulation of a new biological electron/moiety transfer paradigm, called murburn concept. Murburn is a novel literary abstraction from \"mured burning\" or \"mild unrestricted burning\". This concept was invoked to explain the longstanding conundrum of maverick physiological dose responses and also applied to remodel the prevailing understanding of drug metabolism and cellular respiration. A conglomeration of simple ideas grounded in the known principles of thermodynamics and reaction chemistry, murburn concept invokes catalytic/functional roles for diffusible reactive species or radicals. Hitherto, diffusible reactive species were primarily seen as toxic agents of chaos, non-conducible to the maintenance of life-order. Since the murburn paradigm offers a distinctly different perspective for several biological phenomena, researchers holding conventional views of cellular metabolism pose a direct conflict of interests to the advancement of murburn concept. Murburn schemes are poised to integrate numerous metabolic motifs with holistic physiological outcomes; redefining pursuits in biology and medicine. To advance this agenda, I present a brief account of murburn concept and point out how redundant ideas are still advocated in some prestigious journals.</p>","PeriodicalId":38392,"journal":{"name":"Biomolecular Concepts","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/bmc-2020-0002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37563237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A new biological definition of life.","authors":"Victor V Tetz,&nbsp;George V Tetz","doi":"10.1515/bmc-2020-0001","DOIUrl":"https://doi.org/10.1515/bmc-2020-0001","url":null,"abstract":"<p><p>Here we have proposed a new biological definition of life based on the function and reproduction of existing genes and creation of new ones, which is applicable to both unicellular and multicellular organisms. First, we coined a new term \"genetic information metabolism\" comprising functioning, reproduction, and creation of genes and their distribution among living and non-living carriers of genetic information. Encompassing this concept, life is defined as organized matter that provides genetic information metabolism. Additionally, we have articulated the general biological function of life as Tetz biological law: \"General biological function of life is to provide genetic information metabolism\" and formulated novel definition of life: \"Life is an organized matter that provides genetic information metabolism\". New definition of life and Tetz biological law allow to distinguish in a new way living and non-living objects on Earth and other planets based on providing genetic information metabolism.</p>","PeriodicalId":38392,"journal":{"name":"Biomolecular Concepts","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/bmc-2020-0001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37540176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insights into functional connectivity in mammalian signal transduction pathways by pairwise comparison of protein interaction partners of critical signaling hubs","authors":"C. Ramana","doi":"10.1101/2019.12.30.891200","DOIUrl":"https://doi.org/10.1101/2019.12.30.891200","url":null,"abstract":"Abstract Growth factors and cytokines activate signal transduction pathways and regulate gene expression in eukaryotes. Intracellular domains of activated receptors recruit several protein kinases as well as transcription factors that serve as platforms or hubs for the assembly of multi-protein complexes. The signaling hubs involved in a related biologic function often share common interaction proteins and target genes. This functional connectivity suggests that a pairwise comparison of protein interaction partners of signaling hubs and network analysis of common partners and their expression analysis might lead to the identification of critical nodes in cellular signaling. A pairwise comparison of signaling hubs across several related pathways might reveal novel signaling modules. Analysis of protein interaction connectome by Venn (PIC-Venn) of transcription factors STAT1, STAT3, NFKB1, RELA, FOS, and JUN, and their common interaction network suggested that BRCA1 and TSC22D3 function as critical nodes in immune responses by connecting the signaling hubs into signaling modules. Transcriptional regulation of critical hubs may play a major role in the lung epithelial cells in response to SARS-CoV-2 and in COVID-19 patients. Mutations and differential expression levels of these critical nodes and modules in pathological conditions might deregulate signaling pathways and their target genes involved in inflammation. Biological connectivity emerges from the structural connectivity of interaction networks across several signaling hubs in related pathways. The main objectives of this study are to identify critical hubs, critical nodes, and modules involved in the signal transduction pathways of innate and adaptive immunity. Application of PIC-Venn to several signaling hubs might reveal novel nodes and modules that can be targeted by small regulatory molecules to simultaneously activate or inhibit cell signaling in health and disease.","PeriodicalId":38392,"journal":{"name":"Biomolecular Concepts","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45739569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of Killer cell immunoglobulin-like receptors (KIR) genes in stages of HIV-1 infection among patients from Burkina Faso.","authors":"Pegdwendé Abel Sorgho,&nbsp;Florencia Wendkuuni Djigma,&nbsp;Jeremy James Martinson,&nbsp;Albert Théophane Yonli,&nbsp;Bolni Marius Nagalo,&nbsp;Tégwindé Rebeca Compaore,&nbsp;Birama Diarra,&nbsp;Herman Karim Sombie,&nbsp;Abibou Simpore,&nbsp;Arsène Wendpagnangdé Zongo,&nbsp;Abdoul Karim Ouattara,&nbsp;Serge Théophile R Soubeiga,&nbsp;Lassina Traore,&nbsp;Edwige T Yelemkoure,&nbsp;Isabelle Touwendpoulimdé Kiendrebeogo,&nbsp;Lewis R Roberts,&nbsp;Jacques Simpore","doi":"10.1515/bmc-2019-0024","DOIUrl":"https://doi.org/10.1515/bmc-2019-0024","url":null,"abstract":"<p><p>Objectives A cluster of specialized KIR genes of specialized KIR genes has been shown to be associated with susceptibility or resistance to viral infections in humans. Therefore, this pilot study, this pilot investigation sought to determine the frequencies of KIR genes human immunodeficiency virus type 1( HIV-1) patients and establish their potential clinical involvement in disease progression and staging. Methods HIV-1 infected and healthy individuals were selected for this study. Hepatitis B surface antigen (HBsAg), anti-HCV antibodies and anti-HIV-1/2 antibody/ antigen were screened using a 4th generation ELISA assay (Cobas e 411 Analyzer, Roche Diagnostics GmbH Mannheim, Germany). SSP-PCR was used to evaluate the frequencies of KIR genes. CD4+ T counts and HIV-1 viral load were measured in patients using respectively BD FACSCount and Abbott m2000rt instruments. Results We found a significant association between the frequencies of KIR2DL2 (OR=4.41; p < 0.001), KIR2DS2 (OR=4.76; p < 0.001), KIR2DS3 (OR=2.27; p=0.004), KIR2DS4 (OR=1.76; p=0.026), KIR3DS1 (OR=2.43; p=0.016) and HIV-1 infection; whilst the KIR3DL1 gene (OR= 0.39; p < 0.001) was associated with protection against HIV-1 infection. HIV-1 replication was found to be associated with the presence of KIR2DS2 (OR=6.08, p = 0.024). In contrary the pseudogene KIR2DP1 (OR=0.39; p=0.026) were linked to a protective status with the highest number of lymphocyte T CD4 counts. Conclusion Our data showed that KIR2DL2, KIR2DS2, KIR2DS3, KIR2DS4, and KIR3DS1 were significantly associated with HIV-1 infection whereas KIR3DL1 was associated with protection against HIV-1 infection. Further investigations are needed to fully comprehend the clinical significance of KIR genes in HIV disease progression.</p>","PeriodicalId":38392,"journal":{"name":"Biomolecular Concepts","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/bmc-2019-0024","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37480286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effect of rs9930506 FTO gene polymorphism on obesity risk: a meta-analysis.","authors":"S Doaei,&nbsp;S A Mosavi Jarrahi,&nbsp;A Sanjari Moghadam,&nbsp;M E Akbari,&nbsp;S Javadi Kooshesh,&nbsp;M Badeli,&nbsp;Gh Azizi Tabesh,&nbsp;S Abbas Torki,&nbsp;M Gholamalizadeh,&nbsp;Z H Zhu,&nbsp;F Montazeri,&nbsp;S Mirzaei Dahka","doi":"10.1515/bmc-2019-0025","DOIUrl":"https://doi.org/10.1515/bmc-2019-0025","url":null,"abstract":"<p><p>Obesity is associated with polymorphisms of the fat mass and obesity associated gene (FTO). This meta-analysis aimed to investigate the association of the rs9930506 FTO gene polymorphism and obesity. To the best of our knowledge, this study is the first meta-analysis to evaluate the relation between FTO rs9930506 polymorphism and obesity. We searched PubMed, Web of Science, and Embase to identify studies investigating the relations between the rs9930506 FTO gene polymorphism and obesity risk. We pooled adjusted odds ratios (OR) as overall and in continent subgroups. A Fixed-effects model was used to analyze the results of these studies in dominant and recessive models. By examining 3337 obesity cases and 3159 healthy controls, we identified 8 eligible case-control studies. Considering the dominant model of inheritance, there was a relationship between the rs9939506 polymorphism and obesity (OR=1.34 [1.03- 1.74]). The association remained significant in the European subgroup (OR=1.68 [1.2-2.36]), but not in the Asian subgroup. Using the recessive model, we also found a significant relationship when the overall association was investigated (OR=2.47; 95% CI 1.56-3.91). In conclusion, this study identified that the carriers of the risk allele of FTO rs9930506 polymorphism are at higher risk for obesity.</p>","PeriodicalId":38392,"journal":{"name":"Biomolecular Concepts","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/bmc-2019-0025","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37472818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ultrasonography in the diagnosis of lung adhesion before surgery.","authors":"Mohsen Eshraghi,&nbsp;Ahmad Kachoie,&nbsp;Soroush Sharifimoghadam","doi":"10.1515/bmc-2019-0016","DOIUrl":"https://doi.org/10.1515/bmc-2019-0016","url":null,"abstract":"<p><p>Background The presence of pleural adhesions may render video-assisted thoracoscopic surgery difficult or impossible. The aim of this study was to assess the value of chest ultrasonography in the detection of pleural adhesions prior to thoracotomy. Methods Between 2013 and 2014, 42 consecutive patients undergoing thoracotomies (including video-assisted thoracicsurgery) were evaluated with chest ultrasonography. These patients underwent a preoperative ultrasonic examination of the chestwall using a 7.5-10-MHz linear ultrasound probe at 7 points along the chest wall. We measured the movement of the visceral pleuralslide. Results In the upper thoracic wall,ultrasonography demonstrated a sensitivity of 63.0%, a specificity of 66%, a negative predictive value of 77%, a positive predictive evalue of 50.0%, and an overall accuracy of 65.0%. And for the lower thoracic wall, ultrasonography demonstrated a sensitivity of 81.0%, a specificity of 59.0%,a negative predictive value of 89.0%, a positive predictivevalue of 44.0%, and an overall accuracy of 65.0%. Conclusion Chest ultrasonography is moderately accurate in detecting the presence and location of pleural adhesions. The use of preoperative chest sonographic findings to plan trocar placement and to determine the need for an open approach is valuable in helping prevent visceral injury and facilitating video-assisted thoracoscopic surgery.</p>","PeriodicalId":38392,"journal":{"name":"Biomolecular Concepts","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/bmc-2019-0016","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37156915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Quality of Life in Terms of Sinonasal Symptoms in Children with Cystic Fibrosis.","authors":"Maryam Hassanzad,&nbsp;Kourosh Fakhimi Derakhshan,&nbsp;Hosseinali Ghaffaripour,&nbsp;Ali Safavi Naeini,&nbsp;Habib Emami,&nbsp;Ali Akbar Velayati","doi":"10.1515/bmc-2019-0011","DOIUrl":"https://doi.org/10.1515/bmc-2019-0011","url":null,"abstract":"<p><p>Objective Sinusitis is a common complaint in children with cystic fibrosis. However, the actual prevalence of chronic rhinosinusitis and its effect on the quality of life of children have not been well considered. Therefore, the objective of this study was to determine the effect of sinonasal quality of life in children with cystic fibrosis. Materials and methods This study was a diagnostic study performed on 80 children with cystic fibrosis ranging from 2 to 20 years old, who were referred to the cystic fibrosis clinic of Masih Daneshvari Hospital from 2017-2018. The questionnaires used in this study were chronic rhinosinusitis screening questionnaire based on the European task force and the evaluation of the sinonasal quality of life was based on the SN-5 survey. Results Of the 80 patients with fibrosis from 2 to 20 years old who were recruited in the study, 41 patients were female (51.3%) and 39 were male (48.8%). In 61 cases (76.3%), there was no chronic rhinosinusitis and 19 cases (23.8%) had chronic rhinosinusitis. The mean SN-5 score in 19 patients with chronic rhinosinusitis was 3.4105 and the mean score of patients without rhinosinusitis was 1.8426, with a P-value of 0.000. The mean SN-5 score was significant between the two groups. In patients with nasal congestion, there was a significant difference in quality of life factors such as sinus infection, nasal obstruction, and allergy symptoms (P<0.001). In patients with facial pain, there was a significant difference in quality of life factors such as sinus infection, nasal obstruction, allergic symptoms, and physical activity limitation (P <0.001). There was also a significant difference in the quality of life factors such as sinus infection, nasal obstruction, and allergy symptoms in patients with postnasal drip (P <0.001). Conclusion In children with cystic fibrosis, the quality of life of sinonasal has a significant relationship with absence of chronic rhinosinusitis. This study showed that children with chronic renosinusitis have significantly lower quality of sinonasal life than children with chronic rhinosinusitis. The results demonstrated that quality of life scores in sinus infections, nasal obstruction, and allergy symptoms were significantly higher in patients with chronic rhinosinusitis than in those without chronic rhinosinusitis. The findings of this study are important for improving children's health related quality of life, as it leads to promoting communication between the patient and the health care provider, identifying overlooked problems, monitoring the progress of the disease and the burden of treatment, and promoting interventions in the daily life of patients.</p>","PeriodicalId":38392,"journal":{"name":"Biomolecular Concepts","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/bmc-2019-0011","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37350618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.","authors":"Tani Sagna,&nbsp;Elena Bonora,&nbsp;Marie Nabonswindé Lamoussa Ouedraogo,&nbsp;Daniela Fusco,&nbsp;Abdou Azaque Zoure,&nbsp;Cyrille Bisseye,&nbsp;Florencia Djigma,&nbsp;Jacques Gilbert Kafando,&nbsp;Nayi Zongo,&nbsp;Zoenabo Douamba,&nbsp;Dorcas Obiri-Yeboah,&nbsp;Daniela Turchetti,&nbsp;Virginio Pietra,&nbsp;Olga Melanie Lompo,&nbsp;Charlemagne Ouedraogo,&nbsp;Marco Seri,&nbsp;Jacques Simpore","doi":"10.1515/bmc-2019-0015","DOIUrl":"https://doi.org/10.1515/bmc-2019-0015","url":null,"abstract":"<p><p>Breast cancer is the top cause of cancer mortality among women in the world and the second in Africa. The aims of this study were to: i) identify women with breast nodules suspected of having breast cancer ii) sequence the BRCA1 and BRCA2 genes and iii) screen mutations. From 2015 to 2016, 112 women aged from 35 to 44 years, who had come for consultation in the gynecology/obstetrics and the oncology department of the University Hospital Yalgado Ouedraogo, voluntarily agreed to participate to this study. Whole blood was collected from those with mammary nodules. The genomic DNA was extracted using Qiagen kit. FAST KAPA was used for genomic DNA amplification and the purified PCR products were analyzed by direct sequencing using Big Dye v1.1 and ABI 3730 automated sequencer. Nucleotides substitutions were determined. We identified BRCA1 SNPs rs1799966, rs799917, rs16942, rs16941, rs2227945, and BRCA2 SNPs rs169547, rs4986860. These identified variants are found mostly in cases of benign tumors of breast or ovarian cancer with familial history of breast cancer. This study in Burkina-Faso, is the basis for improved and more specific genetic testing, and suggests that additional genes contributing to an increased risk of breast cancer should be analyzed.</p>","PeriodicalId":38392,"journal":{"name":"Biomolecular Concepts","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/bmc-2019-0015","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37337661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}