Mutant Allele Specific Imbalance in Oncogenes with Copy Number Alterations: Occurrence, Mechanisms, and Potential Clinical Implications
Abstract Mutant allele specific imbalance (MASI) was initially coined to describe copy number alterations associated with the mutant allele of an oncogene. The copy number gain (CNG) specific to the mutant allele can be readily observed in electropherograms. With the development of genome-wide analy...
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| Veröffentlicht in: | Cancer letters 2017-01, Vol.384, p.86-93 |
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| creator | Yu, Chih-Chieh Qiu, Wanglong Juang, Caroline S Mansukhani, Mahesh M Halmos, Balazs Su, Gloria H., Dr |
| description | Abstract Mutant allele specific imbalance (MASI) was initially coined to describe copy number alterations associated with the mutant allele of an oncogene. The copy number gain (CNG) specific to the mutant allele can be readily observed in electropherograms. With the development of genome-wide analyses at base-pair resolution with copy number counts, we can now further differentiate MASI into those with CNG, with copy neutral alteration (also termed acquired uniparental disomy; UPD), or with loss of heterozygosity (LOH) due to the loss of the wild-type (WT) allele. Here we summarize the occurrence of MASI with CNG, aUPD, or MASI with LOH in some major oncogenes (such as EGFR , KRAS , PIK3CA , and BRAF ). We also discuss how these various classifications of MASI have been demonstrated to impact tumorigenesis, progression, metastasis, prognosis, and potentially therapeutic responses in cancer, notably in lung, colorectal, and pancreatic cancers. |
| doi_str_mv | 10.1016/j.canlet.2016.10.013 |
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The copy number gain (CNG) specific to the mutant allele can be readily observed in electropherograms. With the development of genome-wide analyses at base-pair resolution with copy number counts, we can now further differentiate MASI into those with CNG, with copy neutral alteration (also termed acquired uniparental disomy; UPD), or with loss of heterozygosity (LOH) due to the loss of the wild-type (WT) allele. Here we summarize the occurrence of MASI with CNG, aUPD, or MASI with LOH in some major oncogenes (such as EGFR , KRAS , PIK3CA , and BRAF ). We also discuss how these various classifications of MASI have been demonstrated to impact tumorigenesis, progression, metastasis, prognosis, and potentially therapeutic responses in cancer, notably in lung, colorectal, and pancreatic cancers.</description><identifier>ISSN: 0304-3835</identifier><identifier>EISSN: 1872-7980</identifier><identifier>DOI: 10.1016/j.canlet.2016.10.013</identifier><identifier>PMID: 27725226</identifier><language>eng</language><publisher>Ireland: Elsevier Ireland Ltd</publisher><subject>Advantages ; Allelic Imbalance ; Animals ; Biomarkers, Tumor - genetics ; Conflicts of interest ; DNA Copy Number Variations ; EGFR ; Gene amplification ; Gene Dosage ; Gene Expression Regulation, Neoplastic ; Genetic Predisposition to Disease ; Genomes ; Hematology, Oncology and Palliative Medicine ; Humans ; Investigations ; Kinases ; KRAS ; Loss of Heterozygosity ; Loss of wild-type allele ; Lung cancer ; MASI ; Medical prognosis ; Metastasis ; Mutation ; Neoplasms - genetics ; Neoplasms - metabolism ; Neoplasms - pathology ; Oncogenes ; PDAC ; Phenotype ; Proto-Oncogene Proteins p21(ras) - genetics ; Receptor, Epidermal Growth Factor - genetics ; Rodents ; Tumorigenesis ; Tumors ; Uniparental Disomy ; UPD</subject><ispartof>Cancer letters, 2017-01, Vol.384, p.86-93</ispartof><rights>Elsevier Ireland Ltd</rights><rights>2016 Elsevier Ireland Ltd</rights><rights>Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.</rights><rights>Copyright Elsevier Limited Jan 1, 2017</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c649t-871ddd157873844e4651d28f56c561b43063b6fd994d2302a4593e09b2bd0f933</citedby><cites>FETCH-LOGICAL-c649t-871ddd157873844e4651d28f56c561b43063b6fd994d2302a4593e09b2bd0f933</cites><orcidid>0000-0002-5158-6019</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0304383516306255$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27725226$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yu, Chih-Chieh</creatorcontrib><creatorcontrib>Qiu, Wanglong</creatorcontrib><creatorcontrib>Juang, Caroline S</creatorcontrib><creatorcontrib>Mansukhani, Mahesh M</creatorcontrib><creatorcontrib>Halmos, Balazs</creatorcontrib><creatorcontrib>Su, Gloria H., Dr</creatorcontrib><title>Mutant Allele Specific Imbalance in Oncogenes with Copy Number Alterations: Occurrence, Mechanisms, and Potential Clinical Implications</title><title>Cancer letters</title><addtitle>Cancer Lett</addtitle><description>Abstract Mutant allele specific imbalance (MASI) was initially coined to describe copy number alterations associated with the mutant allele of an oncogene. The copy number gain (CNG) specific to the mutant allele can be readily observed in electropherograms. With the development of genome-wide analyses at base-pair resolution with copy number counts, we can now further differentiate MASI into those with CNG, with copy neutral alteration (also termed acquired uniparental disomy; UPD), or with loss of heterozygosity (LOH) due to the loss of the wild-type (WT) allele. Here we summarize the occurrence of MASI with CNG, aUPD, or MASI with LOH in some major oncogenes (such as EGFR , KRAS , PIK3CA , and BRAF ). We also discuss how these various classifications of MASI have been demonstrated to impact tumorigenesis, progression, metastasis, prognosis, and potentially therapeutic responses in cancer, notably in lung, colorectal, and pancreatic cancers.</description><subject>Advantages</subject><subject>Allelic Imbalance</subject><subject>Animals</subject><subject>Biomarkers, Tumor - genetics</subject><subject>Conflicts of interest</subject><subject>DNA Copy Number Variations</subject><subject>EGFR</subject><subject>Gene amplification</subject><subject>Gene Dosage</subject><subject>Gene Expression Regulation, Neoplastic</subject><subject>Genetic Predisposition to Disease</subject><subject>Genomes</subject><subject>Hematology, Oncology and Palliative Medicine</subject><subject>Humans</subject><subject>Investigations</subject><subject>Kinases</subject><subject>KRAS</subject><subject>Loss of Heterozygosity</subject><subject>Loss of wild-type allele</subject><subject>Lung cancer</subject><subject>MASI</subject><subject>Medical prognosis</subject><subject>Metastasis</subject><subject>Mutation</subject><subject>Neoplasms - genetics</subject><subject>Neoplasms - metabolism</subject><subject>Neoplasms - pathology</subject><subject>Oncogenes</subject><subject>PDAC</subject><subject>Phenotype</subject><subject>Proto-Oncogene Proteins p21(ras) - genetics</subject><subject>Receptor, Epidermal Growth Factor - genetics</subject><subject>Rodents</subject><subject>Tumorigenesis</subject><subject>Tumors</subject><subject>Uniparental Disomy</subject><subject>UPD</subject><issn>0304-3835</issn><issn>1872-7980</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNUstu1DAUjRCIlsIfIGSJDYvO4GecsECqRjxGahmkwtpy7JuOh8SZ2k7RfAG_jcMMLXQDK19fn3N8H6conhM8J5iUrzdzo30HaU7zLafmmLAHxTGpJJ3JusIPi2PMMJ-xiomj4kmMG4yx4FI8Lo6olFRQWh4XPy7GpH1CZ10HHaDLLRjXOoOWfaM77Q0g59HKm-EKPET03aU1WgzbHfo09g2EzEsQdHKDj2_QypgxBMisU3QBZq29i308Rdpb9HlI4JPTHVp0zjuTg2W_7XLwi_y0eNTqLsKzw3lSfH3_7svi4-x89WG5ODufmZLXaVZJYq0lQlaSVZwDLwWxtGpFaURJGs5wyZqytXXNLWWYai5qBrhuaGNxWzN2Urzd627Hpgdrck1Bd2obXK_DTg3aqb9fvFurq-FGCYGllDgLvDoIhOF6hJhU76KBLg8LhjEqUvGSU4o5-w8oE6zKbVQZ-vIedDOMwedJTIKSs5oSmlF8jzJhiDFAe1s3wWoyhdqovSnUZIopm02RaS_-7PmW9NsFd0OBPPkbB0FF46Y1WhfAJGUH968f7guYw5K_wQ7iXS8qUoXV5WTMyZekzAujQrCf2dvfQg</recordid><startdate>20170101</startdate><enddate>20170101</enddate><creator>Yu, Chih-Chieh</creator><creator>Qiu, Wanglong</creator><creator>Juang, Caroline S</creator><creator>Mansukhani, Mahesh M</creator><creator>Halmos, Balazs</creator><creator>Su, Gloria H., Dr</creator><general>Elsevier Ireland Ltd</general><general>Elsevier Limited</general><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>7TO</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-5158-6019</orcidid></search><sort><creationdate>20170101</creationdate><title>Mutant Allele Specific Imbalance in Oncogenes with Copy Number Alterations: Occurrence, Mechanisms, and Potential Clinical Implications</title><author>Yu, Chih-Chieh ; Qiu, Wanglong ; Juang, Caroline S ; Mansukhani, Mahesh M ; Halmos, Balazs ; Su, Gloria H., Dr</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c649t-871ddd157873844e4651d28f56c561b43063b6fd994d2302a4593e09b2bd0f933</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Advantages</topic><topic>Allelic Imbalance</topic><topic>Animals</topic><topic>Biomarkers, Tumor - genetics</topic><topic>Conflicts of interest</topic><topic>DNA Copy Number Variations</topic><topic>EGFR</topic><topic>Gene amplification</topic><topic>Gene Dosage</topic><topic>Gene Expression Regulation, Neoplastic</topic><topic>Genetic Predisposition to Disease</topic><topic>Genomes</topic><topic>Hematology, Oncology and Palliative Medicine</topic><topic>Humans</topic><topic>Investigations</topic><topic>Kinases</topic><topic>KRAS</topic><topic>Loss of Heterozygosity</topic><topic>Loss of wild-type allele</topic><topic>Lung cancer</topic><topic>MASI</topic><topic>Medical prognosis</topic><topic>Metastasis</topic><topic>Mutation</topic><topic>Neoplasms - genetics</topic><topic>Neoplasms - metabolism</topic><topic>Neoplasms - pathology</topic><topic>Oncogenes</topic><topic>PDAC</topic><topic>Phenotype</topic><topic>Proto-Oncogene Proteins p21(ras) - genetics</topic><topic>Receptor, Epidermal Growth Factor - genetics</topic><topic>Rodents</topic><topic>Tumorigenesis</topic><topic>Tumors</topic><topic>Uniparental Disomy</topic><topic>UPD</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yu, Chih-Chieh</creatorcontrib><creatorcontrib>Qiu, Wanglong</creatorcontrib><creatorcontrib>Juang, Caroline S</creatorcontrib><creatorcontrib>Mansukhani, Mahesh M</creatorcontrib><creatorcontrib>Halmos, Balazs</creatorcontrib><creatorcontrib>Su, Gloria H., Dr</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Cancer letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yu, Chih-Chieh</au><au>Qiu, Wanglong</au><au>Juang, Caroline S</au><au>Mansukhani, Mahesh M</au><au>Halmos, Balazs</au><au>Su, Gloria H., Dr</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutant Allele Specific Imbalance in Oncogenes with Copy Number Alterations: Occurrence, Mechanisms, and Potential Clinical Implications</atitle><jtitle>Cancer letters</jtitle><addtitle>Cancer Lett</addtitle><date>2017-01-01</date><risdate>2017</risdate><volume>384</volume><spage>86</spage><epage>93</epage><pages>86-93</pages><issn>0304-3835</issn><eissn>1872-7980</eissn><abstract>Abstract Mutant allele specific imbalance (MASI) was initially coined to describe copy number alterations associated with the mutant allele of an oncogene. The copy number gain (CNG) specific to the mutant allele can be readily observed in electropherograms. With the development of genome-wide analyses at base-pair resolution with copy number counts, we can now further differentiate MASI into those with CNG, with copy neutral alteration (also termed acquired uniparental disomy; UPD), or with loss of heterozygosity (LOH) due to the loss of the wild-type (WT) allele. Here we summarize the occurrence of MASI with CNG, aUPD, or MASI with LOH in some major oncogenes (such as EGFR , KRAS , PIK3CA , and BRAF ). We also discuss how these various classifications of MASI have been demonstrated to impact tumorigenesis, progression, metastasis, prognosis, and potentially therapeutic responses in cancer, notably in lung, colorectal, and pancreatic cancers.</abstract><cop>Ireland</cop><pub>Elsevier Ireland Ltd</pub><pmid>27725226</pmid><doi>10.1016/j.canlet.2016.10.013</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0002-5158-6019</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Advantages Allelic Imbalance Animals Biomarkers, Tumor - genetics Conflicts of interest DNA Copy Number Variations EGFR Gene amplification Gene Dosage Gene Expression Regulation, Neoplastic Genetic Predisposition to Disease Genomes Hematology, Oncology and Palliative Medicine Humans Investigations Kinases KRAS Loss of Heterozygosity Loss of wild-type allele Lung cancer MASI Medical prognosis Metastasis Mutation Neoplasms - genetics Neoplasms - metabolism Neoplasms - pathology Oncogenes PDAC Phenotype Proto-Oncogene Proteins p21(ras) - genetics Receptor, Epidermal Growth Factor - genetics Rodents Tumorigenesis Tumors Uniparental Disomy UPD |
| title | Mutant Allele Specific Imbalance in Oncogenes with Copy Number Alterations: Occurrence, Mechanisms, and Potential Clinical Implications |
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