Publications

Authors:

Yuan, Yuan; Ju, Young Seok; Kim, Youngwook; Li, Jun; Wang, Yumeng; Yoon, Christopher J.; Yang, Yang; Martincorena, Inigo; Creighton, Chad J.; Weinstein, John N.; Xu, Yanxun; Han, Leng; Kim, Hyung-Lae; Nakagawa, Hidewaki; Park, Keunchil; Campbell, Peter J.; Liang, Han; Aaltonen, Lauri A.; Abascal, Federico; Abeshouse, Adam; Aburatani, Hiroyuki; Adams, David J.; Agrawal, Nishant; Ahn, Keun Soo; Ahn, Sung-Min; Aikata, Hiroshi; Akbani, Rehan; Akdemir, Kadir C.; Al-Ahmadie, Hikmat; Al-Sedairy, Sultan T.; Al-Shahrour, Fatima; Alawi, Malik; Albert, Monique; Aldape, Kenneth; Alexandrov, Ludmil B.; Ally, Adrian; Alsop, Kathryn; Alvarez, Eva G.; Amary, Fernanda; Amin, Samirkumar B.; Aminou, Brice; Ammerpohl, Ole; Anderson, Matthew J.; Ang, Yeng; Antonello, Davide; Anur, Pavana; Aparicio, Samuel; Appelbaum, Elizabeth L.; Arai, Yasuhito; Aretz, Axel; Arihiro, Koji; Ariizumi, Shun-ichi; Armenia, Joshua; Arnould, Laurent; Asa, Sylvia; Assenov, Yassen; Atwal, Gurnit; Aukema, Sietse; Auman, J. Todd; Aure, Miriam R. R.; Awadalla, Philip; Aymerich, Marta; Bader, Gary D.; Baez-Ortega, Adrian; Bailey, Matthew H.; Bailey, Peter J.; Balasundaram, Miruna; Balu, Saianand; Bandopadhayay, Pratiti; Banks, Rosamonde E.; Barbi, Stefano; Barbour, Andrew P.; Barenboim, Jonathan; Barnholtz-Sloan, Jill; Barr, Hugh; Barrera, Elisabet; Bartlett, John; Bartolome, Javier; Bassi, Claudio; Bathe, Oliver F.; Baumhoer, Daniel; Bavi, Prashant; Baylin, Stephen B.; Bazant, Wojciech; Beardsmore, Duncan; Beck, Timothy A.; Behjati, Sam; Behren, Andreas; Niu, Beifang; Bell, Cindy; Beltran, Sergi; Benz, Christopher; Berchuck, Andrew; Bergmann, Anke K.; Bergstrom, Erik N.; Berman, Benjamin P.; Berney, Daniel M.; Bernhart, Stephan H.; Beroukhim, Rameen; Berrios, Mario; Bersani, Samantha; Bertl, Johanna; Betancourt, Miguel; Bhandari, Vinayak; Bhosle, Shriram G.; Biankin, Andrew V.; Bieg, Matthias; Bigner, Darell; Binder, Hans; Birney, Ewan; Birrer, Michael; Biswas, Nidhan K.; Bjerkehagen, Bodil; Bodenheimer, Tom; Boice, Lori; Bonizzato, Giada; De Bono, Johann S.; Boot, Arnoud; Bootwalla, Moiz S.; Borg, Ake; Borkhardt, Arndt; Boroevich, Keith A.; Borozan, Ivan; Borst, Christoph; Bosenberg, Marcus; Bosio, Mattia; Boultwood, Jacqueline; Bourque, Guillaume; Boutros, Paul C.; Bova, G. Steven; Bowen, David T.; Bowlby, Reanne; Bowtell, David D. L.; Boyault, Sandrine; Boyce, Rich; Boyd, Jeffrey; Brazma, Alvis; Brennan, Paul; Brewer, Daniel S.; Brinkman, Arie B.; Bristow, Robert G.; Broaddus, Russell R.; Brock, Jane E.; Brock, Malcolm; Broeks, Annegien; Brooks, Angela N.; Brooks, Denise; Brors, Benedikt; Brunak, Søren; Bruxner, Timothy J. C.; Bruzos, Alicia L.; Buchanan, Alex; Buchhalter, Ivo; Buchholz, Christiane; Bullman, Susan; Burke, Hazel; Burkhardt, Birgit; Burns, Kathleen H.; Busanovich, John; Bustamante, Carlos D.; Butler, Adam P.; Butte, Atul J.; Byrne, Niall J.; Børresen-Dale, Anne-Lise; Caesar-Johnson, Samantha J.; Cafferkey, Andy; Cahill, Declan; Calabrese, Claudia; Caldas, Carlos; Calvo, Fabien; Camacho, Niedzica; Campbell, Peter J.; Campo, Elias; Cantù, Cinzia; Cao, Shaolong; Carey, Thomas E.; Carlevaro-Fita, Joana; Carlsen, Rebecca; Cataldo, Ivana; Cazzola, Mario; Cebon, Jonathan; Cerfolio, Robert; Chadwick, Dianne E.; Chakravarty, Dimple; Chalmers, Don; Chan, Calvin Wing Yiu; Chan, Kin; Chan-Seng-Yue, Michelle; Chandan, Vishal S.; Chang, David K.; Chanock, Stephen J.; Chantrill, Lorraine A.; Chateigner, Aurélien; Chatterjee, Nilanjan; Chayama, Kazuaki; Chen, Hsiao-Wei; Chen, Jieming; Chen, Ken; Chen, Yiwen; Chen, Zhaohong; Cherniack, Andrew D.; Chien, Jeremy; Chiew, Yoke-Eng; Chin, Suet-Feung; Cho, Juok; Cho, Sunghoon; Choi, Jung Kyoon; Choi, Wan; Chomienne, Christine; Chong, Zechen; Choo, Su Pin; Chou, Angela; Christ, Angelika N.; Christie, Elizabeth L.; Chuah, Eric; Cibulskis, Carrie; Cibulskis, Kristian; Cingarlini, Sara; Clapham, Peter; Claviez, Alexander; Cleary, Sean; Cloonan, Nicole; Cmero, Marek; Collins, Colin C.

Title:

Comprehensive molecular characterization of mitochondrial genomes in human cancers

Year:

2020

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Referee:

No

Name of journal:

Nature Genetics

ISSN of journal:

1061-4036

N° Volume:

52

Number or Folder:

3

Page numbers:

342-352

Keyword:

cancer, molecular characterization, mitochrondrial

Short description of contents:

: Mitochondria are essential cellular organelles that play critical roles in cancer. Here, as part of the International Cancer Genome Consortium/The Cancer Genome Atlas Pan-Cancer Analysis of Whole Genomes Consortium, which aggregated whole-genome sequencing data from 2,658 cancers across 38 tumor types, we performed a multidimensional, integrated characterization of mitochondrial genomes and related RNA sequencing data. Our analysis presents the most definitive mutational landscape of mitochondrial genomes and identifies several hypermutated cases. Truncating mutations are markedly enriched in kidney, colorectal and thyroid cancers, suggesting oncogenic effects with the activation of signaling pathways. We find frequent somatic nuclear transfers of mitochondrial DNA, some of which disrupt therapeutic target genes. Mitochondrial copy number varies greatly within and across cancers and correlates with clinical variables. Co-expression analysis highlights the function of mitochondrial genes in oxidative phosphorylation, DNA repair and the cell cycle, and shows their connections with clinically actionable genes. Our study lays a foundation for translating mitochondrial biology into clinical applications.

Note:

Supplementary information is available for this paper a https://doi.org/10.1038/s41588-019-0557-x

Product ID:

137798

Handle IRIS:

11562/1119517

Last Modified:

February 2, 2025

Bibliographic citation:

Yuan, Yuan; Ju, Young Seok; Kim, Youngwook; Li, Jun; Wang, Yumeng; Yoon, Christopher J.; Yang, Yang; Martincorena, Inigo; Creighton, Chad J.; Weinstein, John N.; Xu, Yanxun; Han, Leng; Kim, Hyung-Lae; Nakagawa, Hidewaki; Park, Keunchil; Campbell, Peter J.; Liang, Han; Aaltonen, Lauri A.; Abascal, Federico; Abeshouse, Adam; Aburatani, Hiroyuki; Adams, David J.; Agrawal, Nishant; Ahn, Keun Soo; Ahn, Sung-Min; Aikata, Hiroshi; Akbani, Rehan; Akdemir, Kadir C.; Al-Ahmadie, Hikmat; Al-Sedairy, Sultan T.; Al-Shahrour, Fatima; Alawi, Malik; Albert, Monique; Aldape, Kenneth; Alexandrov, Ludmil B.; Ally, Adrian; Alsop, Kathryn; Alvarez, Eva G.; Amary, Fernanda; Amin, Samirkumar B.; Aminou, Brice; Ammerpohl, Ole; Anderson, Matthew J.; Ang, Yeng; Antonello, Davide; Anur, Pavana; Aparicio, Samuel; Appelbaum, Elizabeth L.; Arai, Yasuhito; Aretz, Axel; Arihiro, Koji; Ariizumi, Shun-ichi; Armenia, Joshua; Arnould, Laurent; Asa, Sylvia; Assenov, Yassen; Atwal, Gurnit; Aukema, Sietse; Auman, J. Todd; Aure, Miriam R. R.; Awadalla, Philip; Aymerich, Marta; Bader, Gary D.; Baez-Ortega, Adrian; Bailey, Matthew H.; Bailey, Peter J.; Balasundaram, Miruna; Balu, Saianand; Bandopadhayay, Pratiti; Banks, Rosamonde E.; Barbi, Stefano; Barbour, Andrew P.; Barenboim, Jonathan; Barnholtz-Sloan, Jill; Barr, Hugh; Barrera, Elisabet; Bartlett, John; Bartolome, Javier; Bassi, Claudio; Bathe, Oliver F.; Baumhoer, Daniel; Bavi, Prashant; Baylin, Stephen B.; Bazant, Wojciech; Beardsmore, Duncan; Beck, Timothy A.; Behjati, Sam; Behren, Andreas; Niu, Beifang; Bell, Cindy; Beltran, Sergi; Benz, Christopher; Berchuck, Andrew; Bergmann, Anke K.; Bergstrom, Erik N.; Berman, Benjamin P.; Berney, Daniel M.; Bernhart, Stephan H.; Beroukhim, Rameen; Berrios, Mario; Bersani, Samantha; Bertl, Johanna; Betancourt, Miguel; Bhandari, Vinayak; Bhosle, Shriram G.; Biankin, Andrew V.; Bieg, Matthias; Bigner, Darell; Binder, Hans; Birney, Ewan; Birrer, Michael; Biswas, Nidhan K.; Bjerkehagen, Bodil; Bodenheimer, Tom; Boice, Lori; Bonizzato, Giada; De Bono, Johann S.; Boot, Arnoud; Bootwalla, Moiz S.; Borg, Ake; Borkhardt, Arndt; Boroevich, Keith A.; Borozan, Ivan; Borst, Christoph; Bosenberg, Marcus; Bosio, Mattia; Boultwood, Jacqueline; Bourque, Guillaume; Boutros, Paul C.; Bova, G. Steven; Bowen, David T.; Bowlby, Reanne; Bowtell, David D. L.; Boyault, Sandrine; Boyce, Rich; Boyd, Jeffrey; Brazma, Alvis; Brennan, Paul; Brewer, Daniel S.; Brinkman, Arie B.; Bristow, Robert G.; Broaddus, Russell R.; Brock, Jane E.; Brock, Malcolm; Broeks, Annegien; Brooks, Angela N.; Brooks, Denise; Brors, Benedikt; Brunak, Søren; Bruxner, Timothy J. C.; Bruzos, Alicia L.; Buchanan, Alex; Buchhalter, Ivo; Buchholz, Christiane; Bullman, Susan; Burke, Hazel; Burkhardt, Birgit; Burns, Kathleen H.; Busanovich, John; Bustamante, Carlos D.; Butler, Adam P.; Butte, Atul J.; Byrne, Niall J.; Børresen-Dale, Anne-Lise; Caesar-Johnson, Samantha J.; Cafferkey, Andy; Cahill, Declan; Calabrese, Claudia; Caldas, Carlos; Calvo, Fabien; Camacho, Niedzica; Campbell, Peter J.; Campo, Elias; Cantù, Cinzia; Cao, Shaolong; Carey, Thomas E.; Carlevaro-Fita, Joana; Carlsen, Rebecca; Cataldo, Ivana; Cazzola, Mario; Cebon, Jonathan; Cerfolio, Robert; Chadwick, Dianne E.; Chakravarty, Dimple; Chalmers, Don; Chan, Calvin Wing Yiu; Chan, Kin; Chan-Seng-Yue, Michelle; Chandan, Vishal S.; Chang, David K.; Chanock, Stephen J.; Chantrill, Lorraine A.; Chateigner, Aurélien; Chatterjee, Nilanjan; Chayama, Kazuaki; Chen, Hsiao-Wei; Chen, Jieming; Chen, Ken; Chen, Yiwen; Chen, Zhaohong; Cherniack, Andrew D.; Chien, Jeremy; Chiew, Yoke-Eng; Chin, Suet-Feung; Cho, Juok; Cho, Sunghoon; Choi, Jung Kyoon; Choi, Wan; Chomienne, Christine; Chong, Zechen; Choo, Su Pin; Chou, Angela; Christ, Angelika N.; Christie, Elizabeth L.; Chuah, Eric; Cibulskis, Carrie; Cibulskis, Kristian; Cingarlini, Sara; Clapham, Peter; Claviez, Alexander; Cleary, Sean; Cloonan, Nicole; Cmero, Marek; Collins, Colin C., Comprehensive molecular characterization of mitochondrial genomes in human cancers «Nature Genetics» , vol. 52 , n. 3 , 2020 , pp. 342-352

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