High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors
ABSTRACT Ribosomal Protein L22 (RPL22) encodes a protein that is a component of the 60S subunit of the ribosome. Variants in this gene have recently been linked to cancer development. Mutations in an A8 repeat in exon 2 were found in a recent study in 52% of microsatellite‐unstable endometrial tumor...
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| Veröffentlicht in: | Human mutation 2014-12, Vol.35 (12), p.1442-1445 |
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| creator | Ferreira, Ana M. Tuominen, Iina van Dijk-Bos, Krista Sanjabi, Bahram van der Sluis, Tineke van der Zee, Ate G. Hollema, Harry Zazula, Monika Sijmons, Rolf H. Aaltonen, Lauri A. Westers, Helga Hofstra, Robert M.W. |
| description | ABSTRACT
Ribosomal Protein L22 (RPL22) encodes a protein that is a component of the 60S subunit of the ribosome. Variants in this gene have recently been linked to cancer development. Mutations in an A8 repeat in exon 2 were found in a recent study in 52% of microsatellite‐unstable endometrial tumors. These tumors are particularly prone to mutations in repeats due to mismatch repair deficiency. We screened this coding repeat in our collection of microsatellite‐unstable endometrial tumors (EC) and colorectal tumors (CRC). We found 50% mutation frequency for EC and 77% mutation frequency for CRC. These results confirm the previous study on the involvement of RPL22 in EC and, more importantly, reports for the first time such high mutation frequency in this gene in colorectal cancer. Furthermore, considering the high mutation frequency found, our data point toward an important role for RPL22 in microsatellite instability carcinogenesis.
RPL22 mutations suggest genes coding for ribosomal proteins as new candidates for target genes in microsatellite unstable tumours. |
| doi_str_mv | 10.1002/humu.22686 |
| format | Article |
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Ribosomal Protein L22 (RPL22) encodes a protein that is a component of the 60S subunit of the ribosome. Variants in this gene have recently been linked to cancer development. Mutations in an A8 repeat in exon 2 were found in a recent study in 52% of microsatellite‐unstable endometrial tumors. These tumors are particularly prone to mutations in repeats due to mismatch repair deficiency. We screened this coding repeat in our collection of microsatellite‐unstable endometrial tumors (EC) and colorectal tumors (CRC). We found 50% mutation frequency for EC and 77% mutation frequency for CRC. These results confirm the previous study on the involvement of RPL22 in EC and, more importantly, reports for the first time such high mutation frequency in this gene in colorectal cancer. Furthermore, considering the high mutation frequency found, our data point toward an important role for RPL22 in microsatellite instability carcinogenesis.
RPL22 mutations suggest genes coding for ribosomal proteins as new candidates for target genes in microsatellite unstable tumours.</description><identifier>ISSN: 1059-7794</identifier><identifier>EISSN: 1098-1004</identifier><identifier>DOI: 10.1002/humu.22686</identifier><identifier>PMID: 25196364</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Base Sequence ; Colorectal cancer ; Colorectal Neoplasms - genetics ; DNA Primers ; Endometrial cancer ; Endometrial Neoplasms - genetics ; Female ; Gene Frequency ; Humans ; microsatellite instability ; Microsatellite Repeats - genetics ; Mutation ; Ribosomal Proteins - genetics ; RNA-Binding Proteins - genetics ; RPL22 ; target gene ; Tumors</subject><ispartof>Human mutation, 2014-12, Vol.35 (12), p.1442-1445</ispartof><rights>2014 WILEY PERIODICALS, INC.</rights><rights>Copyright © 2014 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4286-988552190259d7f8a2a3946cd482de78afb4fa26b723b284f28f2cf1acadba753</citedby><cites>FETCH-LOGICAL-c4286-988552190259d7f8a2a3946cd482de78afb4fa26b723b284f28f2cf1acadba753</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fhumu.22686$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fhumu.22686$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25196364$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ferreira, Ana M.</creatorcontrib><creatorcontrib>Tuominen, Iina</creatorcontrib><creatorcontrib>van Dijk-Bos, Krista</creatorcontrib><creatorcontrib>Sanjabi, Bahram</creatorcontrib><creatorcontrib>van der Sluis, Tineke</creatorcontrib><creatorcontrib>van der Zee, Ate G.</creatorcontrib><creatorcontrib>Hollema, Harry</creatorcontrib><creatorcontrib>Zazula, Monika</creatorcontrib><creatorcontrib>Sijmons, Rolf H.</creatorcontrib><creatorcontrib>Aaltonen, Lauri A.</creatorcontrib><creatorcontrib>Westers, Helga</creatorcontrib><creatorcontrib>Hofstra, Robert M.W.</creatorcontrib><title>High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors</title><title>Human mutation</title><addtitle>Human Mutation</addtitle><description>ABSTRACT
Ribosomal Protein L22 (RPL22) encodes a protein that is a component of the 60S subunit of the ribosome. Variants in this gene have recently been linked to cancer development. Mutations in an A8 repeat in exon 2 were found in a recent study in 52% of microsatellite‐unstable endometrial tumors. These tumors are particularly prone to mutations in repeats due to mismatch repair deficiency. We screened this coding repeat in our collection of microsatellite‐unstable endometrial tumors (EC) and colorectal tumors (CRC). We found 50% mutation frequency for EC and 77% mutation frequency for CRC. These results confirm the previous study on the involvement of RPL22 in EC and, more importantly, reports for the first time such high mutation frequency in this gene in colorectal cancer. Furthermore, considering the high mutation frequency found, our data point toward an important role for RPL22 in microsatellite instability carcinogenesis.
RPL22 mutations suggest genes coding for ribosomal proteins as new candidates for target genes in microsatellite unstable tumours.</description><subject>Base Sequence</subject><subject>Colorectal cancer</subject><subject>Colorectal Neoplasms - genetics</subject><subject>DNA Primers</subject><subject>Endometrial cancer</subject><subject>Endometrial Neoplasms - genetics</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Humans</subject><subject>microsatellite instability</subject><subject>Microsatellite Repeats - genetics</subject><subject>Mutation</subject><subject>Ribosomal Proteins - genetics</subject><subject>RNA-Binding Proteins - genetics</subject><subject>RPL22</subject><subject>target gene</subject><subject>Tumors</subject><issn>1059-7794</issn><issn>1098-1004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtvEzEUhS0EoqWw4QcgS2wQ0rR-jF9LFDUJVUIRagorLM-MTV1mxsX2qM2_x2naLliwug999-jcA8BbjI4xQuTkahqmY0K45M_AIUZKVmVdP9_1TFVCqPoAvErpGiEkGaMvwQFhWHHK60Pwc-l_XcF5tH8mO7ZbGBz89nVFCFxP2WQfxgT9CNe-jSGZbPveZ1ttxpRN01s4C32Its2mh2bs4OnYhcHm6Mt8MQ0hptfghTN9sm8e6hHYzE8vZstqdb74PPu0qtqaSF4pWYwRrBBhqhNOGmKoqnnb1ZJ0VkjjmtoZwhtBaENk7Yh0pHXYtKZrjGD0CHzY697EUD5JWQ8-tcWuGW2YksacMkQJJqqg7_9Br8MUx-KuUEwJxRjihfq4p3aPp2idvol-MHGrMdK71PUudX2feoHfPUhOzWC7J_Qx5gLgPXDre7v9j5RebtabR9Fqf-NTtndPNyb-1lxQwfT3Lws9P-OXWF7-0Av6FxJym5k</recordid><startdate>201412</startdate><enddate>201412</enddate><creator>Ferreira, Ana M.</creator><creator>Tuominen, Iina</creator><creator>van Dijk-Bos, Krista</creator><creator>Sanjabi, Bahram</creator><creator>van der Sluis, Tineke</creator><creator>van der Zee, Ate G.</creator><creator>Hollema, Harry</creator><creator>Zazula, Monika</creator><creator>Sijmons, Rolf H.</creator><creator>Aaltonen, Lauri A.</creator><creator>Westers, Helga</creator><creator>Hofstra, Robert M.W.</creator><general>Blackwell Publishing Ltd</general><general>Hindawi Limited</general><scope>BSCLL</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>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201412</creationdate><title>High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors</title><author>Ferreira, Ana M. ; Tuominen, Iina ; van Dijk-Bos, Krista ; Sanjabi, Bahram ; van der Sluis, Tineke ; van der Zee, Ate G. ; Hollema, Harry ; Zazula, Monika ; Sijmons, Rolf H. ; Aaltonen, Lauri A. ; Westers, Helga ; Hofstra, Robert M.W.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4286-988552190259d7f8a2a3946cd482de78afb4fa26b723b284f28f2cf1acadba753</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Base Sequence</topic><topic>Colorectal cancer</topic><topic>Colorectal Neoplasms - genetics</topic><topic>DNA Primers</topic><topic>Endometrial cancer</topic><topic>Endometrial Neoplasms - genetics</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Humans</topic><topic>microsatellite instability</topic><topic>Microsatellite Repeats - genetics</topic><topic>Mutation</topic><topic>Ribosomal Proteins - genetics</topic><topic>RNA-Binding Proteins - genetics</topic><topic>RPL22</topic><topic>target gene</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ferreira, Ana M.</creatorcontrib><creatorcontrib>Tuominen, Iina</creatorcontrib><creatorcontrib>van Dijk-Bos, Krista</creatorcontrib><creatorcontrib>Sanjabi, Bahram</creatorcontrib><creatorcontrib>van der Sluis, Tineke</creatorcontrib><creatorcontrib>van der Zee, Ate G.</creatorcontrib><creatorcontrib>Hollema, Harry</creatorcontrib><creatorcontrib>Zazula, Monika</creatorcontrib><creatorcontrib>Sijmons, Rolf H.</creatorcontrib><creatorcontrib>Aaltonen, Lauri A.</creatorcontrib><creatorcontrib>Westers, Helga</creatorcontrib><creatorcontrib>Hofstra, Robert M.W.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ferreira, Ana M.</au><au>Tuominen, Iina</au><au>van Dijk-Bos, Krista</au><au>Sanjabi, Bahram</au><au>van der Sluis, Tineke</au><au>van der Zee, Ate G.</au><au>Hollema, Harry</au><au>Zazula, Monika</au><au>Sijmons, Rolf H.</au><au>Aaltonen, Lauri A.</au><au>Westers, Helga</au><au>Hofstra, Robert M.W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors</atitle><jtitle>Human mutation</jtitle><addtitle>Human Mutation</addtitle><date>2014-12</date><risdate>2014</risdate><volume>35</volume><issue>12</issue><spage>1442</spage><epage>1445</epage><pages>1442-1445</pages><issn>1059-7794</issn><eissn>1098-1004</eissn><abstract>ABSTRACT
Ribosomal Protein L22 (RPL22) encodes a protein that is a component of the 60S subunit of the ribosome. Variants in this gene have recently been linked to cancer development. Mutations in an A8 repeat in exon 2 were found in a recent study in 52% of microsatellite‐unstable endometrial tumors. These tumors are particularly prone to mutations in repeats due to mismatch repair deficiency. We screened this coding repeat in our collection of microsatellite‐unstable endometrial tumors (EC) and colorectal tumors (CRC). We found 50% mutation frequency for EC and 77% mutation frequency for CRC. These results confirm the previous study on the involvement of RPL22 in EC and, more importantly, reports for the first time such high mutation frequency in this gene in colorectal cancer. Furthermore, considering the high mutation frequency found, our data point toward an important role for RPL22 in microsatellite instability carcinogenesis.
RPL22 mutations suggest genes coding for ribosomal proteins as new candidates for target genes in microsatellite unstable tumours.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>25196364</pmid><doi>10.1002/humu.22686</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Human mutation, 2014-12, Vol.35 (12), p.1442-1445 |
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| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Base Sequence Colorectal cancer Colorectal Neoplasms - genetics DNA Primers Endometrial cancer Endometrial Neoplasms - genetics Female Gene Frequency Humans microsatellite instability Microsatellite Repeats - genetics Mutation Ribosomal Proteins - genetics RNA-Binding Proteins - genetics RPL22 target gene Tumors |
| title | High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors |
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