Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups
Gingivo-buccal oral squamous cell carcinoma (OSCC-GB), an anatomical and clinical subtype of head and neck squamous cell carcinoma (HNSCC), is prevalent in regions where tobacco-chewing is common. Exome sequencing ( n =50) and recurrence testing ( n =60) reveals that some significantly and frequentl...
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| Veröffentlicht in: | Nature communications 2013-12, Vol.4 (1), p.2873-2873, Article 2873 |
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| creator | Maitra, Arindam Biswas, Nidhan K. Amin, Kishore Kowtal, Pradnya Kumar, Shantanu Das, Subrata Sarin, Rajiv Majumder, Partha P. Bagchi, I Bairagya, B. B. Basu, A. Bhan, M. K. Chaturvedi, P. Das, D. D’Cruz, A. Dhar, R. Dutta, D. Ganguli, D. Gera, P. Gupta, T. Mahapatra, S. Mujawar, M. H. K. Mukherjee, S. Nair, S. Nikam, S. Nobre, M. Patil, A. Patra, S. Rama-Gowtham, M. Rao, T. S. Roy, B. Roychowdhury, B. Sarkar, D. Sarkar, S. Sarkar-Roy, N. Sutradhar, D. |
| description | Gingivo-buccal oral squamous cell carcinoma (OSCC-GB), an anatomical and clinical subtype of head and neck squamous cell carcinoma (HNSCC), is prevalent in regions where tobacco-chewing is common. Exome sequencing (
n
=50) and recurrence testing (
n
=60) reveals that some significantly and frequently altered genes are specific to OSCC-GB (
USP9X
,
MLL4
,
ARID2
,
UNC13C
and
TRPM3
), while some others are shared with HNSCC (for example,
TP53
,
FAT1
,
CASP8
,
HRAS
and
NOTCH1
). We also find new genes with recurrent amplifications (for example,
DROSHA
,
YAP1
) or homozygous deletions (for example,
DDX3X
) in OSCC-GB. We find a high proportion of C>G transversions among tobacco users with high numbers of mutations. Many pathways that are enriched for genomic alterations are specific to OSCC-GB. Our work reveals molecular subtypes with distinctive mutational profiles such as patients predominantly harbouring mutations in
CASP8
with or without mutations in
FAT1.
Mean duration of disease-free survival is significantly elevated in some molecular subgroups. These findings open new avenues for biological characterization and exploration of therapies.
Gingivo-buccal oral squamous cell carcinoma (OSCC-GB) is the leading cancer among males in India. Here, the authors carry out exome sequencing and recurrence testing in patients with OSCC-GB and highlight genes and biological pathways associated with the disease. |
| doi_str_mv | 10.1038/ncomms3873 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3863896</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1464497817</sourcerecordid><originalsourceid>FETCH-LOGICAL-c508t-3cb151a9db1ecd0c75be7841e728b050f15a45cb8102fc3e0d1c708cdefa04e3</originalsourceid><addsrcrecordid>eNplkUtv1DAUhS0EolXphh-ALLFBoIBfGTsbJFTxkorYdG85NzchVWxP7XhQl_xzPEwpA3hhX-l8Pr4-l5CnnL3mTJo3AaL3WRotH5BTwRRvuBby4VF9Qs5zvmZ1yY4bpR6TE6FEJ3jXnpIfX8rq1jkGt9DFhSGD2yKNI53mMM272PQFoGox1S3fFOdjyRRwWSi4BHOI3tGEO3RLpgG_1xpKShjW5bbxe28c6IQBM63u1Mel6otLNJd-SrFs8xPyaKyX8fzuPCNXH95fXXxqLr9-_Hzx7rKBlpm1kdDzlrtu6DnCwEC3PWqjOGphetaykbdOtdAbzsQIEtnAQTMDA46OKZRn5O3Bdlt6jwPUDuuX7DbN3qVbG91s_1bC_M1OcWel2UjTbarBizuDFG8K5tX6Oe-DcAFrJparjVKdNlxX9Pk_6HUsqUb8ixK6Y0KZSr08UJBizgnH-2Y4s_vZ2j-zrfCz4_bv0d-TrMCrA5CrFCZMR2_-b_cTZRizvQ</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1462790248</pqid></control><display><type>article</type><title>Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups</title><source>MEDLINE</source><source>Nature Free</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><source>Springer Nature OA Free Journals</source><creator>Maitra, Arindam ; Biswas, Nidhan K. ; Amin, Kishore ; Kowtal, Pradnya ; Kumar, Shantanu ; Das, Subrata ; Sarin, Rajiv ; Majumder, Partha P. ; Bagchi, I ; Bairagya, B. B. ; Basu, A. ; Bhan, M. K. ; Chaturvedi, P. ; Das, D. ; D’Cruz, A. ; Dhar, R. ; Dutta, D. ; Ganguli, D. ; Gera, P. ; Gupta, T. ; Mahapatra, S. ; Mujawar, M. H. K. ; Mukherjee, S. ; Nair, S. ; Nikam, S. ; Nobre, M. ; Patil, A. ; Patra, S. ; Rama-Gowtham, M. ; Rao, T. S. ; Roy, B. ; Roychowdhury, B. ; Sarkar, D. ; Sarkar, S. ; Sarkar-Roy, N. ; Sutradhar, D.</creator><creatorcontrib>Maitra, Arindam ; Biswas, Nidhan K. ; Amin, Kishore ; Kowtal, Pradnya ; Kumar, Shantanu ; Das, Subrata ; Sarin, Rajiv ; Majumder, Partha P. ; Bagchi, I ; Bairagya, B. B. ; Basu, A. ; Bhan, M. K. ; Chaturvedi, P. ; Das, D. ; D’Cruz, A. ; Dhar, R. ; Dutta, D. ; Ganguli, D. ; Gera, P. ; Gupta, T. ; Mahapatra, S. ; Mujawar, M. H. K. ; Mukherjee, S. ; Nair, S. ; Nikam, S. ; Nobre, M. ; Patil, A. ; Patra, S. ; Rama-Gowtham, M. ; Rao, T. S. ; Roy, B. ; Roychowdhury, B. ; Sarkar, D. ; Sarkar, S. ; Sarkar-Roy, N. ; Sutradhar, D. ; India Project Team of the International Cancer Genome Consortium</creatorcontrib><description>Gingivo-buccal oral squamous cell carcinoma (OSCC-GB), an anatomical and clinical subtype of head and neck squamous cell carcinoma (HNSCC), is prevalent in regions where tobacco-chewing is common. Exome sequencing (
n
=50) and recurrence testing (
n
=60) reveals that some significantly and frequently altered genes are specific to OSCC-GB (
USP9X
,
MLL4
,
ARID2
,
UNC13C
and
TRPM3
), while some others are shared with HNSCC (for example,
TP53
,
FAT1
,
CASP8
,
HRAS
and
NOTCH1
). We also find new genes with recurrent amplifications (for example,
DROSHA
,
YAP1
) or homozygous deletions (for example,
DDX3X
) in OSCC-GB. We find a high proportion of C>G transversions among tobacco users with high numbers of mutations. Many pathways that are enriched for genomic alterations are specific to OSCC-GB. Our work reveals molecular subtypes with distinctive mutational profiles such as patients predominantly harbouring mutations in
CASP8
with or without mutations in
FAT1.
Mean duration of disease-free survival is significantly elevated in some molecular subgroups. These findings open new avenues for biological characterization and exploration of therapies.
Gingivo-buccal oral squamous cell carcinoma (OSCC-GB) is the leading cancer among males in India. Here, the authors carry out exome sequencing and recurrence testing in patients with OSCC-GB and highlight genes and biological pathways associated with the disease.</description><identifier>ISSN: 2041-1723</identifier><identifier>EISSN: 2041-1723</identifier><identifier>DOI: 10.1038/ncomms3873</identifier><identifier>PMID: 24292195</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>631/208/68 ; 631/208/737 ; 631/67/1536/1665 ; Adult ; Cadherins - genetics ; Carcinoma, Squamous Cell - genetics ; Carcinoma, Squamous Cell - mortality ; Caspase 8 - genetics ; Cell cycle ; Female ; Genomes ; Human papillomavirus ; Humanities and Social Sciences ; Humans ; Kaplan-Meier Estimate ; Male ; Middle Aged ; Mouth Neoplasms - genetics ; Mouth Neoplasms - mortality ; multidisciplinary ; Mutation ; Oral cancer ; Patients ; Science ; Science (multidisciplinary) ; Tobacco ; Tumor Suppressor Protein p53 - genetics</subject><ispartof>Nature communications, 2013-12, Vol.4 (1), p.2873-2873, Article 2873</ispartof><rights>The Author(s) 2013</rights><rights>Copyright Nature Publishing Group Dec 2013</rights><rights>Copyright © 2013, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. 2013 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c508t-3cb151a9db1ecd0c75be7841e728b050f15a45cb8102fc3e0d1c708cdefa04e3</citedby><cites>FETCH-LOGICAL-c508t-3cb151a9db1ecd0c75be7841e728b050f15a45cb8102fc3e0d1c708cdefa04e3</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/PMC3863896/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863896/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,41096,42165,51551,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24292195$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Maitra, Arindam</creatorcontrib><creatorcontrib>Biswas, Nidhan K.</creatorcontrib><creatorcontrib>Amin, Kishore</creatorcontrib><creatorcontrib>Kowtal, Pradnya</creatorcontrib><creatorcontrib>Kumar, Shantanu</creatorcontrib><creatorcontrib>Das, Subrata</creatorcontrib><creatorcontrib>Sarin, Rajiv</creatorcontrib><creatorcontrib>Majumder, Partha P.</creatorcontrib><creatorcontrib>Bagchi, I</creatorcontrib><creatorcontrib>Bairagya, B. B.</creatorcontrib><creatorcontrib>Basu, A.</creatorcontrib><creatorcontrib>Bhan, M. K.</creatorcontrib><creatorcontrib>Chaturvedi, P.</creatorcontrib><creatorcontrib>Das, D.</creatorcontrib><creatorcontrib>D’Cruz, A.</creatorcontrib><creatorcontrib>Dhar, R.</creatorcontrib><creatorcontrib>Dutta, D.</creatorcontrib><creatorcontrib>Ganguli, D.</creatorcontrib><creatorcontrib>Gera, P.</creatorcontrib><creatorcontrib>Gupta, T.</creatorcontrib><creatorcontrib>Mahapatra, S.</creatorcontrib><creatorcontrib>Mujawar, M. H. K.</creatorcontrib><creatorcontrib>Mukherjee, S.</creatorcontrib><creatorcontrib>Nair, S.</creatorcontrib><creatorcontrib>Nikam, S.</creatorcontrib><creatorcontrib>Nobre, M.</creatorcontrib><creatorcontrib>Patil, A.</creatorcontrib><creatorcontrib>Patra, S.</creatorcontrib><creatorcontrib>Rama-Gowtham, M.</creatorcontrib><creatorcontrib>Rao, T. S.</creatorcontrib><creatorcontrib>Roy, B.</creatorcontrib><creatorcontrib>Roychowdhury, B.</creatorcontrib><creatorcontrib>Sarkar, D.</creatorcontrib><creatorcontrib>Sarkar, S.</creatorcontrib><creatorcontrib>Sarkar-Roy, N.</creatorcontrib><creatorcontrib>Sutradhar, D.</creatorcontrib><creatorcontrib>India Project Team of the International Cancer Genome Consortium</creatorcontrib><title>Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups</title><title>Nature communications</title><addtitle>Nat Commun</addtitle><addtitle>Nat Commun</addtitle><description>Gingivo-buccal oral squamous cell carcinoma (OSCC-GB), an anatomical and clinical subtype of head and neck squamous cell carcinoma (HNSCC), is prevalent in regions where tobacco-chewing is common. Exome sequencing (
n
=50) and recurrence testing (
n
=60) reveals that some significantly and frequently altered genes are specific to OSCC-GB (
USP9X
,
MLL4
,
ARID2
,
UNC13C
and
TRPM3
), while some others are shared with HNSCC (for example,
TP53
,
FAT1
,
CASP8
,
HRAS
and
NOTCH1
). We also find new genes with recurrent amplifications (for example,
DROSHA
,
YAP1
) or homozygous deletions (for example,
DDX3X
) in OSCC-GB. We find a high proportion of C>G transversions among tobacco users with high numbers of mutations. Many pathways that are enriched for genomic alterations are specific to OSCC-GB. Our work reveals molecular subtypes with distinctive mutational profiles such as patients predominantly harbouring mutations in
CASP8
with or without mutations in
FAT1.
Mean duration of disease-free survival is significantly elevated in some molecular subgroups. These findings open new avenues for biological characterization and exploration of therapies.
Gingivo-buccal oral squamous cell carcinoma (OSCC-GB) is the leading cancer among males in India. Here, the authors carry out exome sequencing and recurrence testing in patients with OSCC-GB and highlight genes and biological pathways associated with the disease.</description><subject>631/208/68</subject><subject>631/208/737</subject><subject>631/67/1536/1665</subject><subject>Adult</subject><subject>Cadherins - genetics</subject><subject>Carcinoma, Squamous Cell - genetics</subject><subject>Carcinoma, Squamous Cell - mortality</subject><subject>Caspase 8 - genetics</subject><subject>Cell cycle</subject><subject>Female</subject><subject>Genomes</subject><subject>Human papillomavirus</subject><subject>Humanities and Social Sciences</subject><subject>Humans</subject><subject>Kaplan-Meier Estimate</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mouth Neoplasms - genetics</subject><subject>Mouth Neoplasms - mortality</subject><subject>multidisciplinary</subject><subject>Mutation</subject><subject>Oral cancer</subject><subject>Patients</subject><subject>Science</subject><subject>Science (multidisciplinary)</subject><subject>Tobacco</subject><subject>Tumor Suppressor Protein p53 - genetics</subject><issn>2041-1723</issn><issn>2041-1723</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNplkUtv1DAUhS0EolXphh-ALLFBoIBfGTsbJFTxkorYdG85NzchVWxP7XhQl_xzPEwpA3hhX-l8Pr4-l5CnnL3mTJo3AaL3WRotH5BTwRRvuBby4VF9Qs5zvmZ1yY4bpR6TE6FEJ3jXnpIfX8rq1jkGt9DFhSGD2yKNI53mMM272PQFoGox1S3fFOdjyRRwWSi4BHOI3tGEO3RLpgG_1xpKShjW5bbxe28c6IQBM63u1Mel6otLNJd-SrFs8xPyaKyX8fzuPCNXH95fXXxqLr9-_Hzx7rKBlpm1kdDzlrtu6DnCwEC3PWqjOGphetaykbdOtdAbzsQIEtnAQTMDA46OKZRn5O3Bdlt6jwPUDuuX7DbN3qVbG91s_1bC_M1OcWel2UjTbarBizuDFG8K5tX6Oe-DcAFrJparjVKdNlxX9Pk_6HUsqUb8ixK6Y0KZSr08UJBizgnH-2Y4s_vZ2j-zrfCz4_bv0d-TrMCrA5CrFCZMR2_-b_cTZRizvQ</recordid><startdate>20131202</startdate><enddate>20131202</enddate><creator>Maitra, Arindam</creator><creator>Biswas, Nidhan K.</creator><creator>Amin, Kishore</creator><creator>Kowtal, Pradnya</creator><creator>Kumar, Shantanu</creator><creator>Das, Subrata</creator><creator>Sarin, Rajiv</creator><creator>Majumder, Partha P.</creator><creator>Bagchi, I</creator><creator>Bairagya, B. 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B.</creatorcontrib><creatorcontrib>Basu, A.</creatorcontrib><creatorcontrib>Bhan, M. K.</creatorcontrib><creatorcontrib>Chaturvedi, P.</creatorcontrib><creatorcontrib>Das, D.</creatorcontrib><creatorcontrib>D’Cruz, A.</creatorcontrib><creatorcontrib>Dhar, R.</creatorcontrib><creatorcontrib>Dutta, D.</creatorcontrib><creatorcontrib>Ganguli, D.</creatorcontrib><creatorcontrib>Gera, P.</creatorcontrib><creatorcontrib>Gupta, T.</creatorcontrib><creatorcontrib>Mahapatra, S.</creatorcontrib><creatorcontrib>Mujawar, M. H. K.</creatorcontrib><creatorcontrib>Mukherjee, S.</creatorcontrib><creatorcontrib>Nair, S.</creatorcontrib><creatorcontrib>Nikam, S.</creatorcontrib><creatorcontrib>Nobre, M.</creatorcontrib><creatorcontrib>Patil, A.</creatorcontrib><creatorcontrib>Patra, S.</creatorcontrib><creatorcontrib>Rama-Gowtham, M.</creatorcontrib><creatorcontrib>Rao, T. S.</creatorcontrib><creatorcontrib>Roy, B.</creatorcontrib><creatorcontrib>Roychowdhury, B.</creatorcontrib><creatorcontrib>Sarkar, D.</creatorcontrib><creatorcontrib>Sarkar, S.</creatorcontrib><creatorcontrib>Sarkar-Roy, N.</creatorcontrib><creatorcontrib>Sutradhar, D.</creatorcontrib><creatorcontrib>India Project Team of the International Cancer Genome Consortium</creatorcontrib><collection>Springer Nature OA Free Journals</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>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Environment Abstracts</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors 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>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology 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 One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection (ProQuest)</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</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>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Advanced Technologies & Aerospace Database</collection><collection>ProQuest Advanced Technologies & Aerospace Collection</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</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>Genetics Abstracts</collection><collection>Environment Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Nature communications</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Maitra, Arindam</au><au>Biswas, Nidhan K.</au><au>Amin, Kishore</au><au>Kowtal, Pradnya</au><au>Kumar, Shantanu</au><au>Das, Subrata</au><au>Sarin, Rajiv</au><au>Majumder, Partha P.</au><au>Bagchi, I</au><au>Bairagya, B. B.</au><au>Basu, A.</au><au>Bhan, M. K.</au><au>Chaturvedi, P.</au><au>Das, D.</au><au>D’Cruz, A.</au><au>Dhar, R.</au><au>Dutta, D.</au><au>Ganguli, D.</au><au>Gera, P.</au><au>Gupta, T.</au><au>Mahapatra, S.</au><au>Mujawar, M. H. K.</au><au>Mukherjee, S.</au><au>Nair, S.</au><au>Nikam, S.</au><au>Nobre, M.</au><au>Patil, A.</au><au>Patra, S.</au><au>Rama-Gowtham, M.</au><au>Rao, T. S.</au><au>Roy, B.</au><au>Roychowdhury, B.</au><au>Sarkar, D.</au><au>Sarkar, S.</au><au>Sarkar-Roy, N.</au><au>Sutradhar, D.</au><aucorp>India Project Team of the International Cancer Genome Consortium</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups</atitle><jtitle>Nature communications</jtitle><stitle>Nat Commun</stitle><addtitle>Nat Commun</addtitle><date>2013-12-02</date><risdate>2013</risdate><volume>4</volume><issue>1</issue><spage>2873</spage><epage>2873</epage><pages>2873-2873</pages><artnum>2873</artnum><issn>2041-1723</issn><eissn>2041-1723</eissn><abstract>Gingivo-buccal oral squamous cell carcinoma (OSCC-GB), an anatomical and clinical subtype of head and neck squamous cell carcinoma (HNSCC), is prevalent in regions where tobacco-chewing is common. Exome sequencing (
n
=50) and recurrence testing (
n
=60) reveals that some significantly and frequently altered genes are specific to OSCC-GB (
USP9X
,
MLL4
,
ARID2
,
UNC13C
and
TRPM3
), while some others are shared with HNSCC (for example,
TP53
,
FAT1
,
CASP8
,
HRAS
and
NOTCH1
). We also find new genes with recurrent amplifications (for example,
DROSHA
,
YAP1
) or homozygous deletions (for example,
DDX3X
) in OSCC-GB. We find a high proportion of C>G transversions among tobacco users with high numbers of mutations. Many pathways that are enriched for genomic alterations are specific to OSCC-GB. Our work reveals molecular subtypes with distinctive mutational profiles such as patients predominantly harbouring mutations in
CASP8
with or without mutations in
FAT1.
Mean duration of disease-free survival is significantly elevated in some molecular subgroups. These findings open new avenues for biological characterization and exploration of therapies.
Gingivo-buccal oral squamous cell carcinoma (OSCC-GB) is the leading cancer among males in India. Here, the authors carry out exome sequencing and recurrence testing in patients with OSCC-GB and highlight genes and biological pathways associated with the disease.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>24292195</pmid><doi>10.1038/ncomms3873</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2041-1723 |
| ispartof | Nature communications, 2013-12, Vol.4 (1), p.2873-2873, Article 2873 |
| issn | 2041-1723 2041-1723 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3863896 |
| source | MEDLINE; Nature Free; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection; Springer Nature OA Free Journals |
| subjects | 631/208/68 631/208/737 631/67/1536/1665 Adult Cadherins - genetics Carcinoma, Squamous Cell - genetics Carcinoma, Squamous Cell - mortality Caspase 8 - genetics Cell cycle Female Genomes Human papillomavirus Humanities and Social Sciences Humans Kaplan-Meier Estimate Male Middle Aged Mouth Neoplasms - genetics Mouth Neoplasms - mortality multidisciplinary Mutation Oral cancer Patients Science Science (multidisciplinary) Tobacco Tumor Suppressor Protein p53 - genetics |
| title | Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-01T16%3A43%3A38IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutational%20landscape%20of%20gingivo-buccal%20oral%20squamous%20cell%20carcinoma%20reveals%20new%20recurrently-mutated%20genes%20and%20molecular%20subgroups&rft.jtitle=Nature%20communications&rft.au=Maitra,%20Arindam&rft.aucorp=India%20Project%20Team%20of%20the%20International%20Cancer%20Genome%20Consortium&rft.date=2013-12-02&rft.volume=4&rft.issue=1&rft.spage=2873&rft.epage=2873&rft.pages=2873-2873&rft.artnum=2873&rft.issn=2041-1723&rft.eissn=2041-1723&rft_id=info:doi/10.1038/ncomms3873&rft_dat=%3Cproquest_pubme%3E1464497817%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1462790248&rft_id=info:pmid/24292195&rfr_iscdi=true |