TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours
Background: Recently, activating mutations in the TERT promoter were identified in cutaneous melanoma. We tested a cohort of ocular melanoma samples for similar mutations. Methods: The TERT promoter region was analysed by Sanger sequencing in 47 uveal (ciliary body or choroidal) melanomas and 38 con...
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| Veröffentlicht in: | British journal of cancer 2013-07, Vol.109 (2), p.497-501 |
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| creator | Griewank, K G Murali, R Schilling, B Scholz, S Sucker, A Song, M Süsskind, D Grabellus, F Zimmer, L Hillen, U Steuhl, K-P Schadendorf, D Westekemper, H Zeschnigk, M |
| description | Background:
Recently, activating mutations in the
TERT
promoter were identified in cutaneous melanoma. We tested a cohort of ocular melanoma samples for similar mutations.
Methods:
The
TERT
promoter region was analysed by Sanger sequencing in 47 uveal (ciliary body or choroidal) melanomas and 38 conjunctival melanomas.
Results:
Mutations of the
TERT
promoter were not identified in uveal melanomas, but were detected in 12 (32%) conjunctival melanomas. Mutations had a UV signature and were identical to those found in cutaneous melanoma.
Conclusion:
Mutations of
TERT
promoter with UV signatures are frequent in conjunctival melanomas and favour a pathogenetic kinship with cutaneous melanomas. Absence of these mutations in uveal melanomas emphasises their genetic distinction from cutaneous and conjunctival melanomas. |
| doi_str_mv | 10.1038/bjc.2013.312 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3721405</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1412557606</sourcerecordid><originalsourceid>FETCH-LOGICAL-c550t-e2cc6acbc63f7c1a6b61c0dfac94a3e54b9f20a6d6acbd5bb85383e8c42a625a3</originalsourceid><addsrcrecordid>eNptkcuLFDEQxoMo7rh68ywBEfZgj3l00t2XBVnWBywIMh4lVKfTsxm6kzGPEf_7TTPjuoqnSqV-fFUfH0IvKVlTwtt3_U6vGaF8zSl7hFZUcFbRljWP0YoQ0lSkY-QMPYtxV9qOtM1TdMZ403VtXa_Q98311w3eBz_7ZAKec4JkvYvYOux1nqD8mQmcnwEPNibrttnGW9yb9NMYh7V3u-x0sgeYMLgB54Mpr5Rnn0N8jp6MMEXz4lTP0bcP15urT9XNl4-fr97fVFoIkirDtJagey352GgKspdUk2EE3dXAjaj7bmQE5LBAg-j7VvCWm1bXDCQTwM_R5VF3n_vZDNq4FGBS-2BnCL-UB6v-njh7q7b-oHjDaE1EEbg4CQT_I5uY1GyjNlNxbnyOitaUCdFIIgv6-h90V6y6Ym-hqGyZILxQb4-UDj7GYMb7YyhRS26q5KaW3FTJreCvHhq4h38HVYA3JwCihmkM4LSNf7hGtLwTi1B15GIZua0JD6773-I7y2KyTQ</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1411682503</pqid></control><display><type>article</type><title>TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours</title><source>MEDLINE</source><source>SpringerLink Journals</source><source>Nature Journals Online</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><creator>Griewank, K G ; Murali, R ; Schilling, B ; Scholz, S ; Sucker, A ; Song, M ; Süsskind, D ; Grabellus, F ; Zimmer, L ; Hillen, U ; Steuhl, K-P ; Schadendorf, D ; Westekemper, H ; Zeschnigk, M</creator><creatorcontrib>Griewank, K G ; Murali, R ; Schilling, B ; Scholz, S ; Sucker, A ; Song, M ; Süsskind, D ; Grabellus, F ; Zimmer, L ; Hillen, U ; Steuhl, K-P ; Schadendorf, D ; Westekemper, H ; Zeschnigk, M</creatorcontrib><description>Background:
Recently, activating mutations in the
TERT
promoter were identified in cutaneous melanoma. We tested a cohort of ocular melanoma samples for similar mutations.
Methods:
The
TERT
promoter region was analysed by Sanger sequencing in 47 uveal (ciliary body or choroidal) melanomas and 38 conjunctival melanomas.
Results:
Mutations of the
TERT
promoter were not identified in uveal melanomas, but were detected in 12 (32%) conjunctival melanomas. Mutations had a UV signature and were identical to those found in cutaneous melanoma.
Conclusion:
Mutations of
TERT
promoter with UV signatures are frequent in conjunctival melanomas and favour a pathogenetic kinship with cutaneous melanomas. Absence of these mutations in uveal melanomas emphasises their genetic distinction from cutaneous and conjunctival melanomas.</description><identifier>ISSN: 0007-0920</identifier><identifier>EISSN: 1532-1827</identifier><identifier>DOI: 10.1038/bjc.2013.312</identifier><identifier>PMID: 23799844</identifier><identifier>CODEN: BJCAAI</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>631/208/737 ; 631/67/1813/1634 ; 631/67/68 ; Aged ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Cancer ; Cancer Research ; Cohort Studies ; Conjunctival Neoplasms - diagnosis ; Conjunctival Neoplasms - genetics ; Dermatology ; Diagnosis, Differential ; Drug Resistance ; Epidemiology ; Female ; Genetic Association Studies ; GTP Phosphohydrolases - genetics ; Humans ; Hyperplasia ; Male ; Medical prognosis ; Medical sciences ; Melanoma ; Melanoma - diagnosis ; Melanoma - genetics ; Membrane Proteins - genetics ; Molecular Medicine ; Multiple tumors. Solid tumors. Tumors in childhood (general aspects) ; Mutation ; Oncology ; Ophthalmology ; Pathology ; Promoter Regions, Genetic - genetics ; Proto-Oncogene Proteins B-raf - genetics ; Short Communication ; Telomerase ; Telomerase - genetics ; Tumors ; Tumors of the skin and soft tissue. Premalignant lesions ; Uveal Neoplasms - diagnosis ; Uveal Neoplasms - genetics</subject><ispartof>British journal of cancer, 2013-07, Vol.109 (2), p.497-501</ispartof><rights>The Author(s) 2013</rights><rights>2014 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Jul 23, 2013</rights><rights>Copyright © 2013 Cancer Research UK 2013 Cancer Research UK</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c550t-e2cc6acbc63f7c1a6b61c0dfac94a3e54b9f20a6d6acbd5bb85383e8c42a625a3</citedby><cites>FETCH-LOGICAL-c550t-e2cc6acbc63f7c1a6b61c0dfac94a3e54b9f20a6d6acbd5bb85383e8c42a625a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721405/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721405/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,41464,42533,51294,53766,53768</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=27583952$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23799844$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Griewank, K G</creatorcontrib><creatorcontrib>Murali, R</creatorcontrib><creatorcontrib>Schilling, B</creatorcontrib><creatorcontrib>Scholz, S</creatorcontrib><creatorcontrib>Sucker, A</creatorcontrib><creatorcontrib>Song, M</creatorcontrib><creatorcontrib>Süsskind, D</creatorcontrib><creatorcontrib>Grabellus, F</creatorcontrib><creatorcontrib>Zimmer, L</creatorcontrib><creatorcontrib>Hillen, U</creatorcontrib><creatorcontrib>Steuhl, K-P</creatorcontrib><creatorcontrib>Schadendorf, D</creatorcontrib><creatorcontrib>Westekemper, H</creatorcontrib><creatorcontrib>Zeschnigk, M</creatorcontrib><title>TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours</title><title>British journal of cancer</title><addtitle>Br J Cancer</addtitle><addtitle>Br J Cancer</addtitle><description>Background:
Recently, activating mutations in the
TERT
promoter were identified in cutaneous melanoma. We tested a cohort of ocular melanoma samples for similar mutations.
Methods:
The
TERT
promoter region was analysed by Sanger sequencing in 47 uveal (ciliary body or choroidal) melanomas and 38 conjunctival melanomas.
Results:
Mutations of the
TERT
promoter were not identified in uveal melanomas, but were detected in 12 (32%) conjunctival melanomas. Mutations had a UV signature and were identical to those found in cutaneous melanoma.
Conclusion:
Mutations of
TERT
promoter with UV signatures are frequent in conjunctival melanomas and favour a pathogenetic kinship with cutaneous melanomas. Absence of these mutations in uveal melanomas emphasises their genetic distinction from cutaneous and conjunctival melanomas.</description><subject>631/208/737</subject><subject>631/67/1813/1634</subject><subject>631/67/68</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer</subject><subject>Cancer Research</subject><subject>Cohort Studies</subject><subject>Conjunctival Neoplasms - diagnosis</subject><subject>Conjunctival Neoplasms - genetics</subject><subject>Dermatology</subject><subject>Diagnosis, Differential</subject><subject>Drug Resistance</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Genetic Association Studies</subject><subject>GTP Phosphohydrolases - genetics</subject><subject>Humans</subject><subject>Hyperplasia</subject><subject>Male</subject><subject>Medical prognosis</subject><subject>Medical sciences</subject><subject>Melanoma</subject><subject>Melanoma - diagnosis</subject><subject>Melanoma - genetics</subject><subject>Membrane Proteins - genetics</subject><subject>Molecular Medicine</subject><subject>Multiple tumors. Solid tumors. Tumors in childhood (general aspects)</subject><subject>Mutation</subject><subject>Oncology</subject><subject>Ophthalmology</subject><subject>Pathology</subject><subject>Promoter Regions, Genetic - genetics</subject><subject>Proto-Oncogene Proteins B-raf - genetics</subject><subject>Short Communication</subject><subject>Telomerase</subject><subject>Telomerase - genetics</subject><subject>Tumors</subject><subject>Tumors of the skin and soft tissue. Premalignant lesions</subject><subject>Uveal Neoplasms - diagnosis</subject><subject>Uveal Neoplasms - genetics</subject><issn>0007-0920</issn><issn>1532-1827</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNptkcuLFDEQxoMo7rh68ywBEfZgj3l00t2XBVnWBywIMh4lVKfTsxm6kzGPEf_7TTPjuoqnSqV-fFUfH0IvKVlTwtt3_U6vGaF8zSl7hFZUcFbRljWP0YoQ0lSkY-QMPYtxV9qOtM1TdMZ403VtXa_Q98311w3eBz_7ZAKec4JkvYvYOux1nqD8mQmcnwEPNibrttnGW9yb9NMYh7V3u-x0sgeYMLgB54Mpr5Rnn0N8jp6MMEXz4lTP0bcP15urT9XNl4-fr97fVFoIkirDtJagey352GgKspdUk2EE3dXAjaj7bmQE5LBAg-j7VvCWm1bXDCQTwM_R5VF3n_vZDNq4FGBS-2BnCL-UB6v-njh7q7b-oHjDaE1EEbg4CQT_I5uY1GyjNlNxbnyOitaUCdFIIgv6-h90V6y6Ym-hqGyZILxQb4-UDj7GYMb7YyhRS26q5KaW3FTJreCvHhq4h38HVYA3JwCihmkM4LSNf7hGtLwTi1B15GIZua0JD6773-I7y2KyTQ</recordid><startdate>20130723</startdate><enddate>20130723</enddate><creator>Griewank, K G</creator><creator>Murali, R</creator><creator>Schilling, B</creator><creator>Scholz, S</creator><creator>Sucker, A</creator><creator>Song, M</creator><creator>Süsskind, D</creator><creator>Grabellus, F</creator><creator>Zimmer, L</creator><creator>Hillen, U</creator><creator>Steuhl, K-P</creator><creator>Schadendorf, D</creator><creator>Westekemper, H</creator><creator>Zeschnigk, M</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>C6C</scope><scope>IQODW</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>7RV</scope><scope>7TO</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20130723</creationdate><title>TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours</title><author>Griewank, K G ; Murali, R ; Schilling, B ; Scholz, S ; Sucker, A ; Song, M ; Süsskind, D ; Grabellus, F ; Zimmer, L ; Hillen, U ; Steuhl, K-P ; Schadendorf, D ; Westekemper, H ; Zeschnigk, M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c550t-e2cc6acbc63f7c1a6b61c0dfac94a3e54b9f20a6d6acbd5bb85383e8c42a625a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>631/208/737</topic><topic>631/67/1813/1634</topic><topic>631/67/68</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer</topic><topic>Cancer Research</topic><topic>Cohort Studies</topic><topic>Conjunctival Neoplasms - diagnosis</topic><topic>Conjunctival Neoplasms - genetics</topic><topic>Dermatology</topic><topic>Diagnosis, Differential</topic><topic>Drug Resistance</topic><topic>Epidemiology</topic><topic>Female</topic><topic>Genetic Association Studies</topic><topic>GTP Phosphohydrolases - genetics</topic><topic>Humans</topic><topic>Hyperplasia</topic><topic>Male</topic><topic>Medical prognosis</topic><topic>Medical sciences</topic><topic>Melanoma</topic><topic>Melanoma - diagnosis</topic><topic>Melanoma - genetics</topic><topic>Membrane Proteins - genetics</topic><topic>Molecular Medicine</topic><topic>Multiple tumors. Solid tumors. Tumors in childhood (general aspects)</topic><topic>Mutation</topic><topic>Oncology</topic><topic>Ophthalmology</topic><topic>Pathology</topic><topic>Promoter Regions, Genetic - genetics</topic><topic>Proto-Oncogene Proteins B-raf - genetics</topic><topic>Short Communication</topic><topic>Telomerase</topic><topic>Telomerase - genetics</topic><topic>Tumors</topic><topic>Tumors of the skin and soft tissue. Premalignant lesions</topic><topic>Uveal Neoplasms - diagnosis</topic><topic>Uveal Neoplasms - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Griewank, K G</creatorcontrib><creatorcontrib>Murali, R</creatorcontrib><creatorcontrib>Schilling, B</creatorcontrib><creatorcontrib>Scholz, S</creatorcontrib><creatorcontrib>Sucker, A</creatorcontrib><creatorcontrib>Song, M</creatorcontrib><creatorcontrib>Süsskind, D</creatorcontrib><creatorcontrib>Grabellus, F</creatorcontrib><creatorcontrib>Zimmer, L</creatorcontrib><creatorcontrib>Hillen, U</creatorcontrib><creatorcontrib>Steuhl, K-P</creatorcontrib><creatorcontrib>Schadendorf, D</creatorcontrib><creatorcontrib>Westekemper, H</creatorcontrib><creatorcontrib>Zeschnigk, M</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>British journal of cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Griewank, K G</au><au>Murali, R</au><au>Schilling, B</au><au>Scholz, S</au><au>Sucker, A</au><au>Song, M</au><au>Süsskind, D</au><au>Grabellus, F</au><au>Zimmer, L</au><au>Hillen, U</au><au>Steuhl, K-P</au><au>Schadendorf, D</au><au>Westekemper, H</au><au>Zeschnigk, M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours</atitle><jtitle>British journal of cancer</jtitle><stitle>Br J Cancer</stitle><addtitle>Br J Cancer</addtitle><date>2013-07-23</date><risdate>2013</risdate><volume>109</volume><issue>2</issue><spage>497</spage><epage>501</epage><pages>497-501</pages><issn>0007-0920</issn><eissn>1532-1827</eissn><coden>BJCAAI</coden><abstract>Background:
Recently, activating mutations in the
TERT
promoter were identified in cutaneous melanoma. We tested a cohort of ocular melanoma samples for similar mutations.
Methods:
The
TERT
promoter region was analysed by Sanger sequencing in 47 uveal (ciliary body or choroidal) melanomas and 38 conjunctival melanomas.
Results:
Mutations of the
TERT
promoter were not identified in uveal melanomas, but were detected in 12 (32%) conjunctival melanomas. Mutations had a UV signature and were identical to those found in cutaneous melanoma.
Conclusion:
Mutations of
TERT
promoter with UV signatures are frequent in conjunctival melanomas and favour a pathogenetic kinship with cutaneous melanomas. Absence of these mutations in uveal melanomas emphasises their genetic distinction from cutaneous and conjunctival melanomas.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>23799844</pmid><doi>10.1038/bjc.2013.312</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | British journal of cancer, 2013-07, Vol.109 (2), p.497-501 |
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| language | eng |
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| source | MEDLINE; SpringerLink Journals; Nature Journals Online; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | 631/208/737 631/67/1813/1634 631/67/68 Aged Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Cancer Research Cohort Studies Conjunctival Neoplasms - diagnosis Conjunctival Neoplasms - genetics Dermatology Diagnosis, Differential Drug Resistance Epidemiology Female Genetic Association Studies GTP Phosphohydrolases - genetics Humans Hyperplasia Male Medical prognosis Medical sciences Melanoma Melanoma - diagnosis Melanoma - genetics Membrane Proteins - genetics Molecular Medicine Multiple tumors. Solid tumors. Tumors in childhood (general aspects) Mutation Oncology Ophthalmology Pathology Promoter Regions, Genetic - genetics Proto-Oncogene Proteins B-raf - genetics Short Communication Telomerase Telomerase - genetics Tumors Tumors of the skin and soft tissue. Premalignant lesions Uveal Neoplasms - diagnosis Uveal Neoplasms - genetics |
| title | TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours |
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