Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population
Breast cancer is the leading cause of cancer-related death among women worldwide. AKT1 encodes the kinase B alpha protein. The rs121434592, rs12881616, rs11555432, rs11555431, rs2494732, and rs3803304 single nucleotide polymorphisms have been identified in the AKT1 kinase gene. Activated AKT1 phosph...
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| Veröffentlicht in: | BioMed research international 2018-01, Vol.2018 (2018), p.1-10 |
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| creator | Paz-y-Miño, César Guevara-Ramírez, Patricia Arcos-Villacís, Nathaly Freire-Paspuel, Byron Leone, Paola E. López-Cortés, Andrés Rosales, Felipe |
| description | Breast cancer is the leading cause of cancer-related death among women worldwide. AKT1 encodes the kinase B alpha protein. The rs121434592, rs12881616, rs11555432, rs11555431, rs2494732, and rs3803304 single nucleotide polymorphisms have been identified in the AKT1 kinase gene. Activated AKT1 phosphorylates downstream substrates regulating cell growth, metabolism, apoptosis, angiogenesis, and drug responses. It is essential to know how breast cancer risk is associated with histopathological and immunohistochemical characteristics and genotype polymorphisms in a high altitude Ecuadorian mestizo population. This is a retrospective case-control study. DNA was extracted from 185 healthy and 91 affected women who live 2,800 meters above sea level. Genotypes were determined by genomic sequencing. We found a possible association between the noncoding intronic variant rs3803304 and breast cancer risk development: GG (odds ratio [OR] = 5.2; 95% confidence interval [CI] = 1.3-20.9; P ≤ 0.05; Q > 0.05). Regarding pathologic characteristics, we found significant risk between estrogen receptor, progesterone receptor, and HER2 status and molecular subtypes (P ≤ 0.001; Q ≤ 0.05). On the other hand, we did not find risk between variants and histopathological characteristics. Despite the small sample size, we found that the intronic variant, AKT1 rs3803304, may act as a predictive biomarker in the risk of developing breast cancer in the high altitude Ecuadorian mestizo population. |
| doi_str_mv | 10.1155/2018/7463832 |
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AKT1 encodes the kinase B alpha protein. The rs121434592, rs12881616, rs11555432, rs11555431, rs2494732, and rs3803304 single nucleotide polymorphisms have been identified in the AKT1 kinase gene. Activated AKT1 phosphorylates downstream substrates regulating cell growth, metabolism, apoptosis, angiogenesis, and drug responses. It is essential to know how breast cancer risk is associated with histopathological and immunohistochemical characteristics and genotype polymorphisms in a high altitude Ecuadorian mestizo population. This is a retrospective case-control study. DNA was extracted from 185 healthy and 91 affected women who live 2,800 meters above sea level. Genotypes were determined by genomic sequencing. We found a possible association between the noncoding intronic variant rs3803304 and breast cancer risk development: GG (odds ratio [OR] = 5.2; 95% confidence interval [CI] = 1.3-20.9; P ≤ 0.05; Q > 0.05). Regarding pathologic characteristics, we found significant risk between estrogen receptor, progesterone receptor, and HER2 status and molecular subtypes (P ≤ 0.001; Q ≤ 0.05). On the other hand, we did not find risk between variants and histopathological characteristics. Despite the small sample size, we found that the intronic variant, AKT1 rs3803304, may act as a predictive biomarker in the risk of developing breast cancer in the high altitude Ecuadorian mestizo population.</description><identifier>ISSN: 2314-6133</identifier><identifier>EISSN: 2314-6141</identifier><identifier>DOI: 10.1155/2018/7463832</identifier><identifier>PMID: 30065942</identifier><language>eng</language><publisher>Cairo, Egypt: Hindawi Publishing Corporation</publisher><subject>Age ; AKT1 protein ; Altitude ; Angiogenesis ; Apoptosis ; Biomarkers ; Biomarkers, Tumor ; Breast cancer ; Breast Neoplasms - genetics ; Cancer ; Case-Control Studies ; Cell growth ; Confidence intervals ; Deoxyribonucleic acid ; Development and progression ; DNA ; Drug metabolism ; Ecuador ; ErbB-2 protein ; Estrogens ; Female ; Genes ; Genetic aspects ; Genetic Predisposition to Disease ; Genotype ; Genotypes ; Health aspects ; Health risks ; High altitude ; High-altitude environments ; Humans ; Kinases ; Lung cancer ; Measuring instruments ; Medical prognosis ; Medical research ; Metabolism ; Middle Aged ; Molecular chains ; Mutation ; Oncogenes ; Pathology ; Physiological aspects ; Polymorphism, Single Nucleotide ; Population ; Progesterone ; Prostate cancer ; Proteins ; Proto-Oncogene Proteins c-akt - genetics ; Retrospective Studies ; Risk ; Risk factors ; Sea level ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Substrates ; Women ; Womens health</subject><ispartof>BioMed research international, 2018-01, Vol.2018 (2018), p.1-10</ispartof><rights>Copyright © 2018 Andrés López-Cortés et al.</rights><rights>COPYRIGHT 2018 John Wiley & Sons, Inc.</rights><rights>Copyright © 2018 Andrés López-Cortés et al. This is an open access article distributed under the Creative Commons Attribution License (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. https://creativecommons.org/licenses/by/4.0</rights><rights>Copyright © 2018 Andrés López-Cortés et al. 2018</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c499t-c9d6fd75d4b03b2e4edbbc1c64d529d6f77b7174062c4980283b426c3f9669ce3</citedby><cites>FETCH-LOGICAL-c499t-c9d6fd75d4b03b2e4edbbc1c64d529d6f77b7174062c4980283b426c3f9669ce3</cites><orcidid>0000-0003-3351-2275 ; 0000-0002-4829-3653 ; 0000-0002-6693-7344 ; 0000-0003-1503-1929</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6051326/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6051326/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30065942$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Buonaguro, Franco M.</contributor><contributor>Franco M Buonaguro</contributor><creatorcontrib>Paz-y-Miño, César</creatorcontrib><creatorcontrib>Guevara-Ramírez, Patricia</creatorcontrib><creatorcontrib>Arcos-Villacís, Nathaly</creatorcontrib><creatorcontrib>Freire-Paspuel, Byron</creatorcontrib><creatorcontrib>Leone, Paola E.</creatorcontrib><creatorcontrib>López-Cortés, Andrés</creatorcontrib><creatorcontrib>Rosales, Felipe</creatorcontrib><title>Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population</title><title>BioMed research international</title><addtitle>Biomed Res Int</addtitle><description>Breast cancer is the leading cause of cancer-related death among women worldwide. AKT1 encodes the kinase B alpha protein. The rs121434592, rs12881616, rs11555432, rs11555431, rs2494732, and rs3803304 single nucleotide polymorphisms have been identified in the AKT1 kinase gene. Activated AKT1 phosphorylates downstream substrates regulating cell growth, metabolism, apoptosis, angiogenesis, and drug responses. It is essential to know how breast cancer risk is associated with histopathological and immunohistochemical characteristics and genotype polymorphisms in a high altitude Ecuadorian mestizo population. This is a retrospective case-control study. DNA was extracted from 185 healthy and 91 affected women who live 2,800 meters above sea level. Genotypes were determined by genomic sequencing. We found a possible association between the noncoding intronic variant rs3803304 and breast cancer risk development: GG (odds ratio [OR] = 5.2; 95% confidence interval [CI] = 1.3-20.9; P ≤ 0.05; Q > 0.05). Regarding pathologic characteristics, we found significant risk between estrogen receptor, progesterone receptor, and HER2 status and molecular subtypes (P ≤ 0.001; Q ≤ 0.05). On the other hand, we did not find risk between variants and histopathological characteristics. Despite the small sample size, we found that the intronic variant, AKT1 rs3803304, may act as a predictive biomarker in the risk of developing breast cancer in the high altitude Ecuadorian mestizo population.</description><subject>Age</subject><subject>AKT1 protein</subject><subject>Altitude</subject><subject>Angiogenesis</subject><subject>Apoptosis</subject><subject>Biomarkers</subject><subject>Biomarkers, Tumor</subject><subject>Breast cancer</subject><subject>Breast Neoplasms - genetics</subject><subject>Cancer</subject><subject>Case-Control Studies</subject><subject>Cell growth</subject><subject>Confidence intervals</subject><subject>Deoxyribonucleic acid</subject><subject>Development and progression</subject><subject>DNA</subject><subject>Drug metabolism</subject><subject>Ecuador</subject><subject>ErbB-2 protein</subject><subject>Estrogens</subject><subject>Female</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Genotypes</subject><subject>Health aspects</subject><subject>Health risks</subject><subject>High altitude</subject><subject>High-altitude environments</subject><subject>Humans</subject><subject>Kinases</subject><subject>Lung cancer</subject><subject>Measuring instruments</subject><subject>Medical prognosis</subject><subject>Medical research</subject><subject>Metabolism</subject><subject>Middle Aged</subject><subject>Molecular chains</subject><subject>Mutation</subject><subject>Oncogenes</subject><subject>Pathology</subject><subject>Physiological aspects</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population</subject><subject>Progesterone</subject><subject>Prostate cancer</subject><subject>Proteins</subject><subject>Proto-Oncogene Proteins c-akt - genetics</subject><subject>Retrospective Studies</subject><subject>Risk</subject><subject>Risk factors</subject><subject>Sea level</subject><subject>Single nucleotide polymorphisms</subject><subject>Single-nucleotide polymorphism</subject><subject>Substrates</subject><subject>Women</subject><subject>Womens health</subject><issn>2314-6133</issn><issn>2314-6141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>RHX</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqNkk1v1DAQhiMEolXpjTOyxAUJlvorTnJBCqvSIloVoXK2HHuyccnai-1QlRM_HYddtsAJS_6Q5vE7nvFbFE8Jfk1IWZ5QTOqTigtWM_qgOKSM8IUgnDzcnxk7KI5jvMF51ETgRjwuDhjGomw4PSx-XE5JJeudGlGbl7toI_I9unLar8BZjdoP1wSdgQPUxui1VQkMurVpQG8DqJjQUjkNAX2y8QuyDqUB0LldDagdk02TAXSqJ2V8sMqhS4jJfvfoo99M46-8T4pHvRojHO_2o-Lzu9Pr5fni4urs_bK9WGjeNGmhGyN6U5WGd5h1FDiYrtNEC25KOseqqqtIxbGg-UKNac06ToVmfSNEo4EdFW-2upupW4PR4FJQo9wEu1bhTnpl5d8RZwe58t-kwCVhVGSBFzuB4L9OuQ65tlHDOCoHfoqS5vaWJaOsyujzf9AbP4Xc3ZmqMKFNnvfUSo0gret9zqtnUdkKSmqMec0y9WpL6eBjDNDvn0ywnD0gZw_InQcy_uzPMvfw7x_PwMstMFhn1K39TznIDPTqnia0LknFfgKz38IK</recordid><startdate>20180101</startdate><enddate>20180101</enddate><creator>Paz-y-Miño, César</creator><creator>Guevara-Ramírez, Patricia</creator><creator>Arcos-Villacís, Nathaly</creator><creator>Freire-Paspuel, Byron</creator><creator>Leone, Paola E.</creator><creator>López-Cortés, Andrés</creator><creator>Rosales, Felipe</creator><general>Hindawi Publishing Corporation</general><general>Hindawi</general><general>John Wiley & Sons, Inc</general><general>Hindawi Limited</general><scope>ADJCN</scope><scope>AHFXO</scope><scope>RHU</scope><scope>RHW</scope><scope>RHX</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QL</scope><scope>7QO</scope><scope>7T7</scope><scope>7TK</scope><scope>7U7</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>CWDGH</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0003-3351-2275</orcidid><orcidid>https://orcid.org/0000-0002-4829-3653</orcidid><orcidid>https://orcid.org/0000-0002-6693-7344</orcidid><orcidid>https://orcid.org/0000-0003-1503-1929</orcidid></search><sort><creationdate>20180101</creationdate><title>Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population</title><author>Paz-y-Miño, César ; Guevara-Ramírez, Patricia ; Arcos-Villacís, Nathaly ; Freire-Paspuel, Byron ; Leone, Paola E. ; López-Cortés, Andrés ; Rosales, Felipe</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c499t-c9d6fd75d4b03b2e4edbbc1c64d529d6f77b7174062c4980283b426c3f9669ce3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Age</topic><topic>AKT1 protein</topic><topic>Altitude</topic><topic>Angiogenesis</topic><topic>Apoptosis</topic><topic>Biomarkers</topic><topic>Biomarkers, Tumor</topic><topic>Breast cancer</topic><topic>Breast Neoplasms - genetics</topic><topic>Cancer</topic><topic>Case-Control Studies</topic><topic>Cell growth</topic><topic>Confidence intervals</topic><topic>Deoxyribonucleic acid</topic><topic>Development and progression</topic><topic>DNA</topic><topic>Drug metabolism</topic><topic>Ecuador</topic><topic>ErbB-2 protein</topic><topic>Estrogens</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Genotypes</topic><topic>Health aspects</topic><topic>Health risks</topic><topic>High altitude</topic><topic>High-altitude environments</topic><topic>Humans</topic><topic>Kinases</topic><topic>Lung cancer</topic><topic>Measuring instruments</topic><topic>Medical prognosis</topic><topic>Medical research</topic><topic>Metabolism</topic><topic>Middle Aged</topic><topic>Molecular chains</topic><topic>Mutation</topic><topic>Oncogenes</topic><topic>Pathology</topic><topic>Physiological aspects</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population</topic><topic>Progesterone</topic><topic>Prostate cancer</topic><topic>Proteins</topic><topic>Proto-Oncogene Proteins c-akt - 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AKT1 encodes the kinase B alpha protein. The rs121434592, rs12881616, rs11555432, rs11555431, rs2494732, and rs3803304 single nucleotide polymorphisms have been identified in the AKT1 kinase gene. Activated AKT1 phosphorylates downstream substrates regulating cell growth, metabolism, apoptosis, angiogenesis, and drug responses. It is essential to know how breast cancer risk is associated with histopathological and immunohistochemical characteristics and genotype polymorphisms in a high altitude Ecuadorian mestizo population. This is a retrospective case-control study. DNA was extracted from 185 healthy and 91 affected women who live 2,800 meters above sea level. Genotypes were determined by genomic sequencing. We found a possible association between the noncoding intronic variant rs3803304 and breast cancer risk development: GG (odds ratio [OR] = 5.2; 95% confidence interval [CI] = 1.3-20.9; P ≤ 0.05; Q > 0.05). Regarding pathologic characteristics, we found significant risk between estrogen receptor, progesterone receptor, and HER2 status and molecular subtypes (P ≤ 0.001; Q ≤ 0.05). On the other hand, we did not find risk between variants and histopathological characteristics. Despite the small sample size, we found that the intronic variant, AKT1 rs3803304, may act as a predictive biomarker in the risk of developing breast cancer in the high altitude Ecuadorian mestizo population.</abstract><cop>Cairo, Egypt</cop><pub>Hindawi Publishing Corporation</pub><pmid>30065942</pmid><doi>10.1155/2018/7463832</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0003-3351-2275</orcidid><orcidid>https://orcid.org/0000-0002-4829-3653</orcidid><orcidid>https://orcid.org/0000-0002-6693-7344</orcidid><orcidid>https://orcid.org/0000-0003-1503-1929</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | BioMed research international, 2018-01, Vol.2018 (2018), p.1-10 |
| issn | 2314-6133 2314-6141 |
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| source | MEDLINE; PubMed Central Open Access; Wiley-Blackwell Open Access Titles; PubMed Central; Alma/SFX Local Collection |
| subjects | Age AKT1 protein Altitude Angiogenesis Apoptosis Biomarkers Biomarkers, Tumor Breast cancer Breast Neoplasms - genetics Cancer Case-Control Studies Cell growth Confidence intervals Deoxyribonucleic acid Development and progression DNA Drug metabolism Ecuador ErbB-2 protein Estrogens Female Genes Genetic aspects Genetic Predisposition to Disease Genotype Genotypes Health aspects Health risks High altitude High-altitude environments Humans Kinases Lung cancer Measuring instruments Medical prognosis Medical research Metabolism Middle Aged Molecular chains Mutation Oncogenes Pathology Physiological aspects Polymorphism, Single Nucleotide Population Progesterone Prostate cancer Proteins Proto-Oncogene Proteins c-akt - genetics Retrospective Studies Risk Risk factors Sea level Single nucleotide polymorphisms Single-nucleotide polymorphism Substrates Women Womens health |
| title | Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-04T17%3A13%3A07IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutational%20Analysis%20of%20Oncogenic%20AKT1%20Gene%20Associated%20with%20Breast%20Cancer%20Risk%20in%20the%20High%20Altitude%20Ecuadorian%20Mestizo%20Population&rft.jtitle=BioMed%20research%20international&rft.au=Paz-y-Mi%C3%B1o,%20C%C3%A9sar&rft.date=2018-01-01&rft.volume=2018&rft.issue=2018&rft.spage=1&rft.epage=10&rft.pages=1-10&rft.issn=2314-6133&rft.eissn=2314-6141&rft_id=info:doi/10.1155/2018/7463832&rft_dat=%3Cgale_pubme%3EA621800483%3C/gale_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2070129012&rft_id=info:pmid/30065942&rft_galeid=A621800483&rfr_iscdi=true |