Publications

Authors:

Jiao, Wei; Atwal, Gurnit; Polak, Paz; Karlic, Rosa; Cuppen, Edwin; Al-Shahrour, Fatima; Atwal, Gurnit; Bailey, Peter J.; Biankin, Andrew V.; Boutros, Paul C.; Campbell, Peter J.; Chang, David K.; Cooke, Susanna L.; Deshpande, Vikram; Faltas, Bishoy M.; Faquin, William C.; Garraway, Levi; Getz, Gad; Grimmond, Sean M.; Haider, Syed; Hoadley, Katherine A.; Jiao, Wei; Kaiser, Vera B.; Karlic, Rosa; Kato, Mamoru; Kübler, Kirsten; Lazar, Alexander J.; Li, Constance H.; Louis, David N.; Margolin, Adam; Martin, Sancha; Nahal-Bose, Hardeep K.; Nielsen, G. Petur; Nik-Zainal, Serena; Omberg, Larsson; P’Ng, Christine; Perry, Marc D.; Polak, Paz; Rheinbay, Esther; Rubin, Mark A.; Semple, Colin A.; Sgroi, Dennis C.; Shibata, Tatsuhiro; Siebert, Reiner; Smith, Jaclyn; Stein, Lincoln D.; Stobbe, Miranda D.; Sun, Ren X.; Thai, Kevin; Wright, Derek W.; Wu, Chin-Lee; Yuan, Ke; Zhang, Junjun; Danyi, Alexandra; de Ridder, Jeroen; van Herpen, Carla; Lolkema, Martijn P.; Steeghs, Neeltje; Getz, Gad; Morris, Quaid D.; Stein, Lincoln D.; 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, Jonath

Title:

A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns

Year:

2020

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Referee:

No

Name of journal:

NATURE COMMUNICATIONS

ISSN of journal:

2041-1723

N° Volume:

11

Number or Folder:

1

Page numbers:

728-739

Keyword:

deep learning, passenger mutations, ICGC, TCGA, PCAWG

Short description of contents:

In cancer, the primary tumour's organ of origin and histopathology are the strongest determinants of its clinical behaviour, but in 3% of cases a patient presents with a metastatic tumour and no obvious primary. Here,as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, we train a deep learning classifier to predict cancer type based on patterns of somatic passenger mutations detected in whole genome sequencing (WGS) of 2606 tumours representing 24 common cancer types produced by the PCAWG Consortium. Our classifier achieves an accuracy of 91% on held-out tumor samples and 88% and 83% respectively on independent primary and metastatic samples, roughly double the accuracy of trained pathologists when presented with a metastatic tumour without knowledge of the primary. Surprisingly, adding information on driver mutations reduced accuracy. Our results have clinical applicability, underscore how patterns of somatic passenger mutations encode the state of the cell of origin, and can inform future strategies to detect the source of circulating tumour DNA.

Product ID:

138174

Handle IRIS:

11562/1120667

Last Modified:

March 7, 2024

Bibliographic citation:

Jiao, Wei; Atwal, Gurnit; Polak, Paz; Karlic, Rosa; Cuppen, Edwin; Al-Shahrour, Fatima; Atwal, Gurnit; Bailey, Peter J.; Biankin, Andrew V.; Boutros, Paul C.; Campbell, Peter J.; Chang, David K.; Cooke, Susanna L.; Deshpande, Vikram; Faltas, Bishoy M.; Faquin, William C.; Garraway, Levi; Getz, Gad; Grimmond, Sean M.; Haider, Syed; Hoadley, Katherine A.; Jiao, Wei; Kaiser, Vera B.; Karlic, Rosa; Kato, Mamoru; Kübler, Kirsten; Lazar, Alexander J.; Li, Constance H.; Louis, David N.; Margolin, Adam; Martin, Sancha; Nahal-Bose, Hardeep K.; Nielsen, G. Petur; Nik-Zainal, Serena; Omberg, Larsson; P’Ng, Christine; Perry, Marc D.; Polak, Paz; Rheinbay, Esther; Rubin, Mark A.; Semple, Colin A.; Sgroi, Dennis C.; Shibata, Tatsuhiro; Siebert, Reiner; Smith, Jaclyn; Stein, Lincoln D.; Stobbe, Miranda D.; Sun, Ren X.; Thai, Kevin; Wright, Derek W.; Wu, Chin-Lee; Yuan, Ke; Zhang, Junjun; Danyi, Alexandra; de Ridder, Jeroen; van Herpen, Carla; Lolkema, Martijn P.; Steeghs, Neeltje; Getz, Gad; Morris, Quaid D.; Stein, Lincoln D.; 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, Jonath, A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns «NATURE COMMUNICATIONS» , vol. 11 , n. 1 , 2020 , pp. 728-739

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo