Now showing items 1-20 of 21

    • Assessing the clinical utility of cancer genomic and proteomic data across tumor types 

      Yuan, Yuan; Van Allen, Eliezer M.; Omberg, Larsson; Wagle, Nikhil; Amin-Mansour, Ali; Sokolov, Artem; Byers, Lauren A.; Xu, Yanxun; Hess, Kenneth R.; Diao, Lixia; Han, Leng; Huang, Xuelin; Lawrence, Michael S.; Weinstein, John N.; Stuart, Josh M.; Mills, Gordon B.; Garraway, Levi A.; Margolin, Adam A.; Getz, Gad; Liang, Han (2014)
      Molecular profiling of tumors promises to advance the clinical management of cancer, but the benefits of integrating molecular data with traditional clinical variables have not been systematically studied. Here we ...
    • Decoupling genetics, lineages, and microenvironment in IDH-mutant gliomas by single-cell RNA-seq 

      Venteicher, Andrew S; Tirosh, Itay; Hebert, Christine; Yizhak, Keren; Neftel, Cyril Ralf Alexander; Filbin, Mariella Gruber; Hovestadt, Volker; Escalante, Leah; Shaw, McKenzie; Rodman, Christopher Jiahn-Leh; Gillespie, Shawn; Dionne, Danielle; Luo, Christina; Ravichandran, Hiranmayi; Mylvaganam, Ravindra; Mount, Christopher; Onozato, Maristela Lika; Nahed, Brian Vala; Wakimoto, Hiroaki; Curry, William Thomas; Iafrate, Anthony John; Rivera, Miguel Nicolas; Frosch, Matthew P.; Golub, Todd Robert; Brastianos, Priscilla Kalliope; Getz, Gad A; Patel, Anoop Premswaroop; Monje, Michelle; Cahill, Daniel P.; Rozenblatt-Rosen, Orit; Louis, David N.; Bernstein, Bradley E.; Regev, Aviv; Suvà, Mario (American Association for the Advancement of Science (AAAS), 2017)
    • Discovery and saturation analysis of cancer genes across 21 tumor types 

      Lawrence, Michael S.; Stojanov, Petar; Mermel, Craig H.; Garraway, Levi A.; Golub, Todd R.; Meyerson, Matthew; Gabriel, Stacey B.; Lander, Eric S.; Getz, Gad (2014)
      Summary While a few cancer genes are mutated in a high proportion of tumors of a given type (>20%), most are mutated at intermediate frequencies (2–20%). To explore the feasibility of creating a comprehensive catalog of ...
    • Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas 

      Campbell, Joshua D.; Alexandrov, Anton; Kim, Jaegil; Wala, Jeremiah; Berger, Alice H.; Pedamallu, Chandra Sekhar; Shukla, Sachet A.; Guo, Guangwu; Brooks, Angela N.; Murray, Bradley A.; Imielinski, Marcin; Hu, Xin; Ling, Shiyun; Akbani, Rehan; Rosenberg, Mara; Cibulskis, Carrie; Ramachandran, Aruna; Collisson, Eric A.; Kwiatkowski, David J.; Lawrence, Michael S.; Weinstein, John N.; Verhaak, Roel G. W.; Wu, Catherine J.; Hammerman, Peter S.; Cherniack, Andrew D.; Getz, Gad; Artyomov, Maxim N.; Schreiber, Robert; Govindan, Ramaswamy; Meyerson, Matthew (2016)
      To compare lung adenocarcinoma (ADC) and lung squamous cell carcinoma (SqCC) and to identify new drivers of lung carcinogenesis, we examined exome sequences and copy number profiles of 660 lung ADC and 484 lung SqCC ...
    • Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma 

      Giannakis, Marios; Mu, Xinmeng Jasmine; Shukla, Sachet A.; Qian, Zhi Rong; Cohen, Ofir; Nishihara, Reiko; Bahl, Samira; Cao, Yin; Amin-Mansour, Ali; Yamauchi, Mai; Sukawa, Yasutaka; Stewart, Chip; Rosenberg, Mara; Mima, Kosuke; Inamura, Kentaro; Nosho, Katsuhiko; Nowak, Jonathan A.; Lawrence, Michael S.; Giovannucci, Edward L.; Chan, Andrew T.; Ng, Kimmie; Meyerhardt, Jeffrey A.; Van Allen, Eliezer M.; Getz, Gad; Gabriel, Stacey B.; Lander, Eric S.; Wu, Catherine J.; Fuchs, Charles S.; Ogino, Shuji; Garraway, Levi A. (Cell Press, 2016)
      Summary Large-scale genomic characterization of tumors from prospective cohort studies may yield new insights into cancer pathogenesis. We performed whole-exome sequencing of 619 incident colorectal cancers (CRCs) and ...
    • The Genomic Landscape of Juvenile Myelomonocytic Leukemia 

      Stieglitz, Elliot; Taylor-Weiner, Amaro N.; Chang, Tiffany Y.; Gelston, Laura C.; Wang, Yong-Dong; Mazor, Tali; Esquivel, Emilio; Yu, Ariel; Seepo, Sara; Olsen, Scott; Rosenberg, Mara; Archambeault, Sophie L.; Abusin, Ghada; Beckman, Kyle; Brown, Patrick A.; Briones, Michael; Carcamo, Benjamin; Cooper, Todd; Dahl, Gary V.; Emanuel, Peter D.; Fluchel, Mark N.; Goyal, Rakesh K.; Hayashi, Robert J.; Hitzler, Johann; Hugge, Christopher; Liu, Y. Lucy; Messinger, Yoav H.; Mahoney, Donald H.; Monteleone, Philip; Nemecek, Eneida R.; Roehrs, Philip A.; Schore, Reuven J.; Stine, Kimo C.; Takemoto, Clifford M.; Toretsky, Jeffrey A.; Costello, Joseph F.; Olshen, Adam B.; Stewart, Chip; Li, Yongjin; Ma, Jing; Gerbing, Robert B.; Alonzo, Todd A.; Getz, Gad; Gruber, Tanja; Golub, Todd; Stegmaier, Kimberly; Loh, Mignon L. (2015)
      Juvenile myelomonocytic leukemia (JMML) is a myeloproliferative neoplasm (MPN) of childhood with a poor prognosis. Mutations in NF1, NRAS, KRAS, PTPN11 and CBL occur in 85% of patients, yet there are currently no risk ...
    • Locally Disordered Methylation Forms the Basis of Intratumor Methylome Variation in Chronic Lymphocytic Leukemia 

      Landau, Dan Avi; Clement, Kendell; Ziller, Michael Johannes; Boyle, Patrick; Fan, Jean; Gu, Hongcang; Stevenson, Kristen; Sougnez, Carrie; Wang, Lili; Li, Shuqiang; Kotliar, Dylan; Zhang, Wandi; Ghandi, Mahmoud; Garraway, Levi Alexander; Fernandes, Stacey M.; Livak, Kenneth J.; Gabriel, Stacey; Gnirke, Andreas; Lander, Eric Steven; Brown, Jennifer Ruth; Neuberg, Donna S.; Kharchenko, Peter Vasili; Hacohen, Nir; Getz, Gad A; Meissner, Alexander; Wu, Catherine J. (Elsevier BV, 2014)
      Intratumoral heterogeneity plays a critical role in tumor evolution. To define the contribution of DNA methylation to heterogeneity within tumors, we performed genome-scale bisulfite sequencing of 104 primary chronic ...
    • Long-term Benefit of PD-L1 Blockade in Lung Cancer Associated with JAK3 Activation 

      Van Allen, Eliezer Mendel; Golay, H. G.; Liu, Yan; Koyama, S.; Wong, Kwok-Kin; Taylor-Weiner, Amaro; Giannakis, Marios; Harden, M.; Rojas-Rudilla, V.; Chevalier, A.; Thai, T.; Lydon, C.; Mach, S.; Wong, J. A.; Rabin, A. R.; Helmkamp, J.; Sholl, Lynette Marie; Carter, Scott Lambert; Oxnard, Geoffrey Raymond; Janne, Pasi Antero; Getz, Gad A; Lindeman, Neal I.; Hammerman, Peter Seth; Garraway, Levi Alexander; Hodi, Frank Stephen; Rodig, Scott J.; Dranoff, G; Wong, Kwok-Kin; Barbie, David Allen (American Association for Cancer Research (AACR), 2015)
      PD-1 immune checkpoint blockade occasionally results in durable clinical responses in advanced metastatic cancers. However, mechanism-based predictors of response to this immunotherapy remain incompletely characterized. ...
    • Mutational heterogeneity in cancer and the search for new cancer genes 

      Lawrence, Michael S.; Stojanov, Petar; Polak, Paz; Kryukov, Gregory V.; Cibulskis, Kristian; Sivachenko, Andrey; Carter, Scott L.; Stewart, Chip; Mermel, Craig H.; Roberts, Steven A.; Kiezun, Adam; Hammerman, Peter S.; McKenna, Aaron; Drier, Yotam; Zou, Lihua; Ramos, Alex H.; Pugh, Trevor J.; Stransky, Nicolas; Helman, Elena; Kim, Jaegil; Sougnez, Carrie; Ambrogio, Lauren; Nickerson, Elizabeth; Shefler, Erica; Cortés, Maria L.; Auclair, Daniel; Saksena, Gordon; Voet, Douglas; Noble, Michael; DiCara, Daniel; Lin, Pei; Lichtenstein, Lee; Heiman, David I.; Fennell, Timothy; Imielinski, Marcin; Hernandez, Bryan; Hodis, Eran; Baca, Sylvan; Dulak, Austin M.; Lohr, Jens; Landau, Dan-Avi; Wu, Catherine J.; Melendez-Zajgla, Jorge; Hidalgo-Miranda, Alfredo; Koren, Amnon; McCarroll, Steven A.; Mora, Jaume; Crompton, Brian; Onofrio, Robert; Parkin, Melissa; Winckler, Wendy; Ardlie, Kristin; Gabriel, Stacey B.; Roberts, Charles W. M.; Biegel, Jaclyn A.; Stegmaier, Kimberly; Bass, Adam J.; Garraway, Levi A.; Meyerson, Matthew; Golub, Todd R.; Gordenin, Dmitry A.; Sunyaev, Shamil; Lander, Eric S.; Getz, Gad (2014)
      Major international projects are now underway aimed at creating a comprehensive catalog of all genes responsible for the initiation and progression of cancer. These studies involve sequencing of matched tumor–normal samples ...
    • Mutations driving CLL and their evolution in progression and relapse 

      Landau, Dan A.; Tausch, Eugen; Taylor-Weiner, Amaro N; Stewart, Chip; Reiter, Johannes G.; Bahlo, Jasmin; Kluth, Sandra; Bozic, Ivana; Lawrence, Mike; Böttcher, Sebastian; Carter, Scott L.; Cibulskis, Kristian; Mertens, Daniel; Sougnez, Carrie; Rosenberg, Mara; Hess, Julian M.; Edelmann, Jennifer; Kless, Sabrina; Kneba, Michael; Ritgen, Matthias; Fink, Anna; Fischer, Kirsten; Gabriel, Stacey; Lander, Eric; Nowak, Martin A.; Döhner, Hartmut; Hallek, Michael; Neuberg, Donna; Getz, Gad; Stilgenbauer, Stephan; Wu, Catherine J. (2015)
      SUMMARY Which genetic alterations drive tumorigenesis and how they evolve over the course of disease and therapy are central questions in cancer biology. We identify 44 recurrently mutated genes and 11 recurrent somatic ...
    • Paired Exome Analysis of Barrett’s Esophagus and Adenocarcinoma 

      Stachler, Matthew D.; Taylor-Weiner, Amaro; Peng, Shouyong; McKenna, Aaron; Agoston, Agoston T.; Odze, Robert D.; Davison, Jon M.; Nason, Katie S.; Loda, Massimo; Leshchiner, Ignaty; Stewart, Chip; Stojanov, Petar; Seepo, Sara; Lawrence, Michael S.; Ferrer-Torres, Daysha; Lin, Jules; Chang, Andrew C.; Gabriel, Stacey B.; Lander, Eric S.; Beer, David G.; Getz, Gad; Carter, Scott L.; Bass, Adam J. (2015)
      Barrett’s esophagus, is thought to progress to esophageal adenocarcinoma (EAC) through a step-wise progression with loss of CDKN2A followed by p53 inactivation and aneuploidy. Here, we present whole exome sequencing from ...
    • Pan-Cancer Network Analysis Identifies Combinations of Rare Somatic Mutations across Pathways and Protein Complexes 

      Leiserson, Mark D.M.; Vandin, Fabio; Wu, Hsin-Ta; Dobson, Jason R.; Eldridge, Jonathan V.; Thomas, Jacob L.; Papoutsaki, Alexandra; Kim, Younhun; Niu, Beifang; McLellan, Michael; Lawrence, Michael S.; Gonzalez-Perez, Abel; Tamborero, David; Cheng, Yuwei; Ryslik, Gregory A.; Lopez-Bigas, Nuria; Getz, Gad; Ding, Li; Raphael, Benjamin J. (2014)
      Cancers exhibit extensive mutational heterogeneity and the resulting long tail phenomenon complicates the discovery of the genes and pathways that are significantly mutated in cancer. We perform a Pan-Cancer analysis of ...
    • RB loss in resistant EGFR mutant lung adenocarcinomas that transform to small-cell lung cancer 

      Niederst, Matthew J.; Sequist, Lecia V.; Poirier, John T.; Mermel, Craig H.; Lockerman, Elizabeth L.; Garcia, Angel R.; Katayama, Ryohei; Costa, Carlotta; Ross, Kenneth N.; Moran, Teresa; Howe, Emily; Fulton, Linnea E.; Mulvey, Hillary E.; Bernardo, Lindsay A.; Mohamoud, Farhiya; Miyoshi, Norikatsu; VanderLaan, Paul A.; Costa, Daniel B.; Jänne, Pasi A.; Borger, Darrell R.; Ramaswamy, Sridhar; Shioda, Toshi; Iafrate, Anthony J.; Getz, Gad; Rudin, Charles M.; Mino-Kenudson, Mari; Engelman, Jeffrey A. (Nature Pub. Group, 2015)
      Tyrosine kinase inhibitors are effective treatments for non-small-cell lung cancers (NSCLCs) with epidermal growth factor receptor (EGFR) mutations. However, relapse typically occurs after an average of 1 year of continuous ...
    • Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples 

      Cibulskis, Kristian; Lawrence, Michael S.; Carter, Scott L.; Sivachenko, Andrey; Jaffe, David; Sougnez, Carrie; Gabriel, Stacey; Meyerson, Matthew; Lander, Eric S.; Getz, Gad (2013)
      Detection of somatic point substitutions is a key step in characterizing the cancer genome. Mutations in cancer are rare (0.1–100/Mb) and often occur only in a subset of the sequenced cells, either due to contamination by ...
    • Somatic ERCC2 Mutations Are Associated with a Distinct Genomic Signature in Urothelial Tumors 

      Kim, Jaegil; Mouw, Kent W; Polak, Paz; Braunstein, Lior Z; Kamburov, Atanas; Kwiatkowski, David J; Rosenberg, Jonathan E; Van Allen, Eliezer M; D'Andrea, Alan; Getz, Gad (2016)
      Alterations in DNA repair pathways are common in tumors and can result in characteristic mutational signatures; however, a specific mutational signature associated with somatic alterations in the nucleotide excision repair ...
    • SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas 

      Bass, Adam Joel; Watanabe, Hideo; Mermel, Craig; Yu, Soyoung; Perner, Sven; Verhaak, Roel; Kim, So Jeong; Wardwell, Leslie; Tamayo, Pablo; Gat-Viks, Irit; Ramos, Alex H; Woo, Michele S; Weir, Barbara Ann; Getz, Gad A; Beroukhim, Rameen; O, Michael; Dutt, Amit; Rozenblatt-Rosen, Orit; Dziunycz, Piotr; Komisarof, Justin; Chirieac, Lucian Radu; LaFargue, Christopher J; Scheble, Veit; Wilbertz, Theresia; Ma, Changqing; Rao, Shilpa; Nakagawa, Hiroshi; Stairs, Douglas B; Lin, Lin; Giordano, Thomas J; Wagner, Patrick; Minna, John D; Gazdar, Adi F; Zhu, Chang Qi; Brose, Marcia S; Cecconello, Ivan; Jr, Ulysses Ribeiro; Marie, Suely K; Dahl, Olav; Shivdasani, Ramesh Arjun; Tsao, Ming-Sound; Rubin, Mark A; Wong, Kwok-Kin; Regev, Aviv; Hahn, William Chun; Beer, David G; Rustgi, Anil K; Meyerson, Matthew Langer (Springer Nature, 2009)
      Lineage survival oncogenes are activated by somatic DNA alterations in cancers arising from the cell lineages in which these genes play a role in normal development.1,2 Here we show that a peak of genomic amplification on ...
    • Sporadic hemangioblastomas are characterized by cryptic VHL inactivation 

      Shankar, Ganesh Mani; Taylor-Weiner, Amaro; Lelic, Nina; Jones, Robert T; Kim, James C; Francis, Joshua M; Abedalthagafi, Malak S; Borges, Lawrence Francis; Coumans, Jean-Valery C E; Curry, William Thomas; Nahed, Brian Vala; Shin, John H; Paek, Sun Ha; Park, Sung-Hye; Stewart, Chip; Lawrence, Michael S; Cibulskis, Kristian; Thorner, Aaron R; Van Hummelen, Paul; Stemmer-Rachamimov, Anat; Batchelor, Tracy Todd; Carter, Scott Lambert; Hoang, Mai P; Santagata, Sandro; Louis, David N.; Barker, Frederick George; Meyerson, Matthew Langer; Getz, Gad A; Brastianos, Priscilla Kalliope; Cahill, Daniel P. (Springer Nature, 2014)
      Hemangioblastomas consist of 10-20% neoplastic “stromal” cells within a vascular tumor cell mass of reactive pericytes, endothelium and lymphocytes. Familial cases of central nervous system hemangioblastoma uniformly result ...
    • Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases 

      Yang, Jialiang; Huang, Tao; Petralia, Francesca; Long, Quan; Zhang, Bin; Argmann, Carmen; Zhao, Yong; Mobbs, Charles V.; Schadt, Eric E.; Zhu, Jun; Tu, Zhidong; Ardlie, Kristin G.; Deluca, David S.; Segrè, Ayellet V.; Sullivan, Timothy J.; Young, Taylor R.; Gelfand, Ellen T.; Trowbridge, Casandra A.; Maller, Julian B.; Tukiainen, Taru; Lek, Monkol; Ward, Lucas D.; Kheradpour, Pouya; Iriarte, Benjamin; Meng, Yan; Palmer, Cameron D.; Winckler, Wendy; Hirschhorn, Joel; Kellis, Manolis; MacArthur, Daniel G.; Getz, Gad; Shablin, Andrey A.; Li, Gen; Zhou, Yi-Hui; Nobel, Andrew B.; Rusyn, Ivan; Wright, Fred A.; Lappalainen, Tuuli; Ferreira, Pedro G.; Ongen, Halit; Rivas, Manuel A.; Battle, Alexis; Mostafavi, Sara; Monlong, Jean; Sammeth, Michael; Mele, Marta; Reverter, Ferran; Goldman, Jakob; Koller, Daphne; Guigo, Roderic; McCarthy, Mark I.; Dermitzakis, Emmanouil T.; Gamazon, Eric R.; Konkashbaev, Anuar; Nicolae, Dan L.; Cox, Nancy J.; Flutre, Timothée; Wen, Xiaoquan; Stephens, Matthew; Pritchard, Jonathan K.; Lin, Luan; Liu, Jun; Brown, Amanda; Mestichelli, Bernadette; Tidwell, Denee; Lo, Edmund; Salvatore, Mike; Shad, Saboor; Thomas, Jeffrey A.; Lonsdale, John T.; Choi, Christopher; Karasik, Ellen; Ramsey, Kimberly; Moser, Michael T.; Foster, Barbara A.; Gillard, Bryan M.; Syron, John; Fleming, Johnelle; Magazine, Harold; Hasz, Rick; Walters, Gary D.; Bridge, Jason P.; Miklos, Mark; Sullivan, Susan; Barker, Laura K.; Traino, Heather; Mosavel, Magboeba; Siminoff, Laura A.; Valley, Dana R.; Rohrer, Daniel C.; Jewel, Scott; Branton, Philip; Sobin, Leslie H.; Qi, Liqun; Hariharan, Pushpa; Wu, Shenpei; Tabor, David; Shive, Charles; Smith, Anna M.; Buia, Stephen A.; Undale, Anita H.; Robinson, Karna L.; Roche, Nancy; Valentino, Kimberly M.; Britton, Angela; Burges, Robin; Bradbury, Debra; Hambright, Kenneth W.; Seleski, John; Korzeniewski, Greg E.; Erickson, Kenyon; Marcus, Yvonne; Tejada, Jorge; Taherian, Mehran; Lu, Chunrong; Robles, Barnaby E.; Basile, Margaret; Mash, Deborah C.; Volpi, Simona; Struewing, Jeff; Temple, Gary F.; Boyer, Joy; Colantuoni, Deborah; Little, Roger; Koester, Susan; Carithers, NCI Latarsha J.; Moore, Helen M.; Guan, Ping; Compton, Carolyn; Sawyer, Sherilyn J.; Demchok, Joanne P.; Vaught, Jimmie B.; Rabiner, Chana A.; Lockhart, Nicole C. (Nature Publishing Group, 2015)
      Aging is one of the most important biological processes and is a known risk factor for many age-related diseases in human. Studying age-related transcriptomic changes in tissues across the whole body can provide valuable ...
    • Tumor cells can follow distinct evolutionary paths to become resistant to epidermal growth factor receptor inhibition 

      Hata, Aaron N; Niederst, Matthew J; Archibald, Hannah L; Gomez-Caraballo, Maria; Siddiqui, Faria M; Mulvey, Hillary E; Maruvka, Yosef E; Ji, Fei; Bhang, Hyo-eun C; Radhakrishna, Viveksagar Krishnamurthy; Siravegna, Giulia; Hu, Haichuan; Raoof, Sana; Lockerman, Elizabeth; Kalsy, Anuj; Lee, Dana; Keating, Celina L; Ruddy, David A; Damon, Leah J; Crystal, Adam S; Costa, Carlotta; Piotrowska, Zofia; Bardelli, Alberto; Iafrate, Anthony J; Sadreyev, Ruslan I; Stegmeier, Frank; Getz, Gad; Sequist, Lecia V; Faber, Anthony C; Engelman, Jeffrey A (2016)
      Although mechanisms of acquired resistance of EGFR mutant non-small cell lung cancers to EGFR inhibitors have been identified, little is known about how resistant clones evolve during drug therapy. Here, we observe that ...
    • Whole exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer 

      Lohr, Jens G.; Adalsteinsson, Viktor A.; Cibulskis, Kristian; Choudhury, Atish D.; Rosenberg, Mara; Cruz-Gordillo, Peter; Francis, Joshua; Zhang, Cheng-Zhong; Shalek, Alex K.; Satija, Rahul; Trombetta, John T.; Lu, Diana; Tallapragada, Naren; Tahirova, Narmin; Kim, Sora; Blumenstiel, Brendan; Sougnez, Carrie; Lowe, Alarice; Wong, Bang; Auclair, Daniel; Van Allen, Eliezer M.; Nakabayashi, Mari; Lis, Rosina T.; Lee, Gwo-Shu M.; Li, Tiantian; Chabot, Matthew S.; Ly, Amy; Taplin, Mary-Ellen; Clancy, Thomas E.; Loda, Massimo; Regev, Aviv; Meyerson, Matthew; Hahn, William C.; Kantoff, Philip W.; Golub, Todd R.; Getz, Gad; Boehm, Jesse S.; Love, J. Christopher (2014)
      Comprehensive analyses of cancer genomes promise to inform prognoses and precise cancer treatments. A major barrier, however, is inaccessibility of metastatic tissue. A potential solution is to characterize circulating ...