Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer
Small-cell lung cancer (SCLC) is an aggressive lung tumor subtype with poor prognosis1,2,3. We sequenced 29 SCLC exomes, 2 genomes and 15 transcriptomes and found an extremely high mutation rate of 7.4 ± 1 protein-changing mutations per million base pairs. Therefore, we conducted integrated analyses...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
02 September 2012
|
| In: |
Nature genetics
Year: 2012, Volume: 44, Issue: 10, Pages: 1104-1110 |
| ISSN: | 1546-1718 |
| DOI: | 10.1038/ng.2396 |
| Online Access: | Verlag, Volltext: http://dx.doi.org/10.1038/ng.2396 Verlag, Volltext: https://www.nature.com/articles/ng.2396 
|
| Author Notes: | Martin Peifer, Lynnette Fernández-Cuesta, Martin L. Sos, Julie George, Danila Seidel, Lawryn H. Kasper, Dennis Plenker, Frauke Leenders, Ruping Sun, Thomas Zander, Roopika Menon, Mirjam Koker, Ilona Dahmen, Christian Müller, Vincenzo Di Cerbo, Hans-Ulrich Schildhaus, Janine Altmüller, Ingelore Baessmann, Christian Becker, Bram de Wilde, Jo Vandesompele, Diana Böhm, Sascha Ansén, Franziska Gabler, Ines Wilkening, Stefanie Heynck, Johannes M. Heuckmann, Xin Lu, Scott L. Carter, Kristian Cibulskis, Shantanu Banerji, Gad Getz, Kwon-Sik Park, Daniel Rauh, Christian Grütter, Matthias Fischer, Laura Pasqualucci, Gavin Wright, Zoe Wainer, Prudence Russell, Iver Petersen, Yuan Chen, Erich Stoelben, Corinna Ludwig, Philipp Schnabel, Hans Hoffmann, Thomas Muley, Michael Brockmann, Walburga Engel-Riedel, Lucia A. Muscarella, Vito M. Fazio, Harry Groen, Wim Timens, Hannie Sietsma, Erik Thunnissen, Egbert Smit, Daniëlle A.M. Heideman, Peter J.F. Snijders, Federico Cappuzzo, Claudia Ligorio, Stefania Damiani, John Field, Steinar Solberg, Odd Terje Brustugun, Marius Lund-Iversen, Jörg Sänger, Joachim H. Clement, Alex Soltermann, Holger Moch, Walter Weder, Benjamin Solomon, Jean-Charles Soria, Pierre Validire, Benjamin Besse, Elisabeth Brambilla, Christian Brambilla, Sylvie Lantuejoul, Philippe Lorimier, Peter M. Schneider, Michael Hallek, William Pao, Matthew Meyerson, Julien Sage, Jay Shendure, Robert Schneider, Reinhard Büttner, Jürgen Wolf, Peter Nürnberg, Sven Perner, Lukas C. Heukamp, Paul K. Brindle, Stefan Haas & Roman K. Thomas |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1577421191 | ||
| 003 | DE-627 | ||
| 005 | 20220814185736.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 180709s2012 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1038/ng.2396 |2 doi | |
| 035 | |a (DE-627)1577421191 | ||
| 035 | |a (DE-576)507421191 | ||
| 035 | |a (DE-599)BSZ507421191 | ||
| 035 | |a (OCoLC)1341013438 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Peifer, Martin |e VerfasserIn |0 (DE-588)132933055 |0 (DE-627)52868678X |0 (DE-576)299511766 |4 aut | |
| 245 | 1 | 0 | |a Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer |c Martin Peifer, Lynnette Fernández-Cuesta, Martin L. Sos, Julie George, Danila Seidel, Lawryn H. Kasper, Dennis Plenker, Frauke Leenders, Ruping Sun, Thomas Zander, Roopika Menon, Mirjam Koker, Ilona Dahmen, Christian Müller, Vincenzo Di Cerbo, Hans-Ulrich Schildhaus, Janine Altmüller, Ingelore Baessmann, Christian Becker, Bram de Wilde, Jo Vandesompele, Diana Böhm, Sascha Ansén, Franziska Gabler, Ines Wilkening, Stefanie Heynck, Johannes M. Heuckmann, Xin Lu, Scott L. Carter, Kristian Cibulskis, Shantanu Banerji, Gad Getz, Kwon-Sik Park, Daniel Rauh, Christian Grütter, Matthias Fischer, Laura Pasqualucci, Gavin Wright, Zoe Wainer, Prudence Russell, Iver Petersen, Yuan Chen, Erich Stoelben, Corinna Ludwig, Philipp Schnabel, Hans Hoffmann, Thomas Muley, Michael Brockmann, Walburga Engel-Riedel, Lucia A. Muscarella, Vito M. Fazio, Harry Groen, Wim Timens, Hannie Sietsma, Erik Thunnissen, Egbert Smit, Daniëlle A.M. Heideman, Peter J.F. Snijders, Federico Cappuzzo, Claudia Ligorio, Stefania Damiani, John Field, Steinar Solberg, Odd Terje Brustugun, Marius Lund-Iversen, Jörg Sänger, Joachim H. Clement, Alex Soltermann, Holger Moch, Walter Weder, Benjamin Solomon, Jean-Charles Soria, Pierre Validire, Benjamin Besse, Elisabeth Brambilla, Christian Brambilla, Sylvie Lantuejoul, Philippe Lorimier, Peter M. Schneider, Michael Hallek, William Pao, Matthew Meyerson, Julien Sage, Jay Shendure, Robert Schneider, Reinhard Büttner, Jürgen Wolf, Peter Nürnberg, Sven Perner, Lukas C. Heukamp, Paul K. Brindle, Stefan Haas & Roman K. Thomas |
| 264 | 1 | |c 02 September 2012 | |
| 300 | |a 7 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 09.07.2018 | ||
| 520 | |a Small-cell lung cancer (SCLC) is an aggressive lung tumor subtype with poor prognosis1,2,3. We sequenced 29 SCLC exomes, 2 genomes and 15 transcriptomes and found an extremely high mutation rate of 7.4 ± 1 protein-changing mutations per million base pairs. Therefore, we conducted integrated analyses of the various data sets to identify pathogenetically relevant mutated genes. In all cases, we found evidence for inactivation of TP53 and RB1 and identified recurrent mutations in the CREBBP, EP300 and MLL genes that encode histone modifiers. Furthermore, we observed mutations in PTEN, SLIT2 and EPHA7, as well as focal amplifications of the FGFR1 tyrosine kinase gene. Finally, we detected many of the alterations found in humans in SCLC tumors from Tp53 and Rb1 double knockout mice4. Our study implicates histone modification as a major feature of SCLC, reveals potentially therapeutically tractable genomic alterations and provides a generalizable framework for the identification of biologically relevant genes in the context of high mutational background. | ||
| 700 | 1 | |a Schnabel, Philipp Albert |d 1953-2021 |e VerfasserIn |0 (DE-588)102254960X |0 (DE-627)717000087 |0 (DE-576)16982750X |4 aut | |
| 700 | 1 | |a Hoffmann, Hans |d 1957- |e VerfasserIn |0 (DE-588)1022900455 |0 (DE-627)71732852X |0 (DE-576)366147730 |4 aut | |
| 700 | 1 | |a Muley, Thomas |e VerfasserIn |0 (DE-588)1056885432 |0 (DE-627)794179169 |0 (DE-576)16759284X |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Nature genetics |d London : Macmillan Publishers Limited, part of Springer Nature, 1992 |g 44(2012), 10, Seite 1104-1110 |h Online-Ressource |w (DE-627)303393734 |w (DE-600)1494946-5 |w (DE-576)080887198 |x 1546-1718 |7 nnas |a Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer |
| 773 | 1 | 8 | |g volume:44 |g year:2012 |g number:10 |g pages:1104-1110 |g extent:7 |a Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1038/ng.2396 |x Verlag |x Resolving-System |3 Volltext |
| 856 | 4 | 0 | |u https://www.nature.com/articles/ng.2396 |x Verlag |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20180709 | ||
| 993 | |a Article | ||
| 994 | |a 2012 | ||
| 998 | |g 1056885432 |a Muley, Thomas |m 1056885432:Muley, Thomas |d 910000 |d 950000 |d 950900 |e 910000PM1056885432 |e 950000PM1056885432 |e 950900PM1056885432 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 46 | ||
| 998 | |g 1022900455 |a Hoffmann, Hans |m 1022900455:Hoffmann, Hans |d 910000 |d 950000 |d 950900 |e 910000PH1022900455 |e 950000PH1022900455 |e 950900PH1022900455 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 45 | ||
| 998 | |g 102254960X |a Schnabel, Philipp Albert |m 102254960X:Schnabel, Philipp Albert |d 910000 |d 912000 |e 910000PS102254960X |e 912000PS102254960X |k 0/910000/ |k 1/910000/912000/ |p 44 | ||
| 999 | |a KXP-PPN1577421191 |e 3016686244 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"id":{"eki":["1577421191"],"doi":["10.1038/ng.2396"]},"recId":"1577421191","name":{"displayForm":["Martin Peifer, Lynnette Fernández-Cuesta, Martin L. Sos, Julie George, Danila Seidel, Lawryn H. Kasper, Dennis Plenker, Frauke Leenders, Ruping Sun, Thomas Zander, Roopika Menon, Mirjam Koker, Ilona Dahmen, Christian Müller, Vincenzo Di Cerbo, Hans-Ulrich Schildhaus, Janine Altmüller, Ingelore Baessmann, Christian Becker, Bram de Wilde, Jo Vandesompele, Diana Böhm, Sascha Ansén, Franziska Gabler, Ines Wilkening, Stefanie Heynck, Johannes M. Heuckmann, Xin Lu, Scott L. Carter, Kristian Cibulskis, Shantanu Banerji, Gad Getz, Kwon-Sik Park, Daniel Rauh, Christian Grütter, Matthias Fischer, Laura Pasqualucci, Gavin Wright, Zoe Wainer, Prudence Russell, Iver Petersen, Yuan Chen, Erich Stoelben, Corinna Ludwig, Philipp Schnabel, Hans Hoffmann, Thomas Muley, Michael Brockmann, Walburga Engel-Riedel, Lucia A. Muscarella, Vito M. Fazio, Harry Groen, Wim Timens, Hannie Sietsma, Erik Thunnissen, Egbert Smit, Daniëlle A.M. Heideman, Peter J.F. Snijders, Federico Cappuzzo, Claudia Ligorio, Stefania Damiani, John Field, Steinar Solberg, Odd Terje Brustugun, Marius Lund-Iversen, Jörg Sänger, Joachim H. Clement, Alex Soltermann, Holger Moch, Walter Weder, Benjamin Solomon, Jean-Charles Soria, Pierre Validire, Benjamin Besse, Elisabeth Brambilla, Christian Brambilla, Sylvie Lantuejoul, Philippe Lorimier, Peter M. Schneider, Michael Hallek, William Pao, Matthew Meyerson, Julien Sage, Jay Shendure, Robert Schneider, Reinhard Büttner, Jürgen Wolf, Peter Nürnberg, Sven Perner, Lukas C. Heukamp, Paul K. Brindle, Stefan Haas & Roman K. Thomas"]},"type":{"bibl":"article-journal","media":"Online-Ressource"},"language":["eng"],"relHost":[{"recId":"303393734","pubHistory":["1.1992 -"],"id":{"issn":["1546-1718"],"eki":["303393734"],"zdb":["1494946-5"]},"origin":[{"publisher":"Macmillan Publishers Limited, part of Springer Nature ; Nature America","dateIssuedDisp":"1992-","dateIssuedKey":"1992","publisherPlace":"London ; New York, NY"}],"note":["Gesehen am 02.03.05"],"physDesc":[{"extent":"Online-Ressource"}],"type":{"media":"Online-Ressource","bibl":"periodical"},"disp":"Integrative genome analyses identify key somatic driver mutations of small-cell lung cancerNature genetics","titleAlt":[{"title":"Genetics"}],"language":["eng"],"part":{"issue":"10","text":"44(2012), 10, Seite 1104-1110","pages":"1104-1110","extent":"7","year":"2012","volume":"44"},"title":[{"title_sort":"Nature genetics","title":"Nature genetics"}]}],"person":[{"given":"Martin","family":"Peifer","display":"Peifer, Martin","role":"aut"},{"display":"Schnabel, Philipp Albert","role":"aut","family":"Schnabel","given":"Philipp Albert"},{"display":"Hoffmann, Hans","role":"aut","given":"Hans","family":"Hoffmann"},{"role":"aut","display":"Muley, Thomas","family":"Muley","given":"Thomas"}],"title":[{"title":"Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer","title_sort":"Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer"}],"physDesc":[{"extent":"7 S."}],"note":["Gesehen am 09.07.2018"],"origin":[{"dateIssuedDisp":"02 September 2012","dateIssuedKey":"2012"}]} | ||
| SRT | |a PEIFERMARTINTEGRATIV0220 | ||