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Some recent publications of interest:

  1. Kwiatkowski DJ, Choueiri TK, Fay AP, Rini BI, Thorner AR, De Velasco G, Tyburczy M, Hamieh L, Albiges L, Agarwal N, Ho TH, Song J, Pignon JC, Barrios PM, Michaelson MD, Van Allen EM, Krajewski KM, Porta C, Pal SK, Bellmunt J, McDermott DF, Heng DY, Gray KP, Signoretti S. Mutations in TSC1, TSC2, and MTOR are associated with response to rapalogs in patients with metastatic Renal Cell Carcinoma. Clin Cancer Res. 2016 Feb 1. pii: clincanres.2631.2015. [Epub ahead of print] PMID: 26831717


  1. Kwiatkowski DJ, Palmer MR, Jozwiak S, Bissler J, Franz D, Segal S, Chen D, Sampson JR. Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. Eur J Hum Genet. 2015 Dec;23(12):1665-72. doi: 10.1038/ejhg.2015.47. Epub 2015 Mar 18. PubMed PMID: 25782670.


  1. Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet. 2015 Nov 5;11(11):e1005637. doi: 10.1371/journal.pgen.1005637. eCollection 2015 Nov. PubMed PMID: 26540169; PubMed Central PMCID: PMC4634999.


  1. Tyburczy ME, Jozwiak S, Malinowska IA, Chekaluk Y, Pugh TJ, Wu CL, Nussbaum RL, Seepo S, Dzik T, Kotulska K, Kwiatkowski DJ. A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. Hum Mol Genet. 2015 Apr 1;24(7):1836-42. doi: 10.1093/hmg/ddu597. Epub 2014 Nov 28. PubMed PMID: 25432535; PubMed Central PMCID: PMC4355019.


  1. Liu Y, Kwiatkowski DJ. Combined CDKN1A/TP53 mutation in bladder cancer is a therapeutic target. Mol Cancer Ther. 2015 Jan;14(1):174-82. doi:10.1158/1535-7163.MCT-14-0622-T. Epub 2014 Oct 27. PubMed PMID: 25349305; PubMed Central PMCID: PMC4297264.


  1. Wagle N, Grabiner BC, Van Allen EM, Amin-Mansour A, Taylor-Weiner A, Rosenberg M, Gray N, Barletta JA, Guo Y, Swanson SJ, Ruan DT, Hanna GJ, Haddad RI, Getz G, Kwiatkowski DJ, Carter SL, Sabatini DM, Jänne PA, Garraway LA, Lorch JH. Response and acquired resistance to everolimus in anaplastic thyroid cancer. N Engl J Med. 2014 371:1426-33 PMID:25295501


  1. Davis CF, Ricketts CJ, Wang M, Yang L, Cherniack AD, Shen H, Buhay C, Kang H, Kim SC, Fahey CC, Hacker KE, Bhanot G, Gordenin DA, Chu A, Gunaratne PH, Biehl M, Seth S, Kaipparettu BA, Bristow CA, Donehower LA, Wallen EM, Smith AB, Tickoo SK, Tamboli P, Reuter V, Schmidt LS, Hsieh JJ, Choueiri TK, Hakimi AA; The Cancer Genome Atlas Research Network, Chin L, Meyerson M, Kucherlapati R, Park WY, Robertson AG, Laird PW, Henske EP, Kwiatkowski DJ, Park PJ, Morgan M, Shuch B, Muzny D, Wheeler DA, Linehan WM, Gibbs RA, Rathmell WK, Creighton CJ; The Cancer Genome Atlas Research Network. The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma.  Cancer Cell. 2014 26:319-30 PMCID:PMC4160352


  1. Zhang Y, Nicholatos J, Dreier JR, Ricoult SJ, Widenmaier SB, Hotamisligil GS, Kwiatkowski DJ, Manning BD. Coordinated regulation of protein synthesis and degradation by mTORC1.  Nature. 2014 513:440-3  PMID: 25043031


  1. Kris MG, Johnson BE, Berry LD, Kwiatkowski DJ, Iafrate AJ, Wistuba II, Varella-Garcia M, Franklin WA, Aronson SL, Su PF, Shyr Y, Camidge DR, Sequist LV, Glisson BS, Khuri FR, Garon EB, Pao W, Rudin C, Schiller J, Haura EB, Socinski M, Shirai K, Chen H, Giaccone G, Ladanyi M, Kugler K, Minna JD, Bunn PA. Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. JAMA. 2014 311:1998-2006.  PMID:24846037


  1. The Cancer Genome Atlas Research Network. Kwiatkowski DJ (member of Writing team, Clinical team, DNA Sequence and Copy Number Analysis team, Analysis Working Group, and one of three corresponding authors) Comprehensivemolecular characterization of urothelial bladder carcinoma. Nature. 2014 507:315-22. PMID:24476821 PMCID: PMC3962515


  1. Tyburczy ME, Wang JA, Li S, Thangapazham R, Chekaluk Y, Moss J, Kwiatkowski DJ*, Darling TN. Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. Hum Mol Genet. 2014 23:2023-9. PMID:24271014 PMCID: PMC3959815 *corresponding author


  1. Guo Y, Chirieac LR, Bueno R, Pass H, Wu W, Malinowska IA, Kwiatkowski DJ. Tsc1-Tp53 loss induces mesothelioma in mice, and evidence for this mechanism in human mesothelioma. Oncogene. 2014 33:3151-60. PMID: 23851502  PMCID: PMC3931745


  1. Badri KR, Gao L, Hyjek E, Schuger N, Schuger L, Qin W, Chekaluk Y, Kwiatkowski DJ*, Zhe X. Exonic Mutations of TSC2/TSC1 Are Common but Not Seen in All Sporadic Pulmonary Lymphangioleiomyomatosis. Am J Respir Crit Care Med. 2013 187:663-5. PMCID: PMC3733437 *corresponding author


  1. Guo Y, Chekaluk Y, Zhang J, Du J, Wu CL, Kwiatkowski DJ. TSC1 involvement in bladder cancer: diverse effects and therapeutic implications. J Pathol. 2013 230:17-27. PMID:23401075


  1. Guo Y, Du J, Kwiatkowski DJ. Molecular dissection of AKT activation in lung cancer cell lines. Mol Cancer Res. 2013 11:282-93. PMCID: PMC3606262


  1. Dickson MA, Schwartz GK, Antonescu CR, Kwiatkowski DJ*, Malinowska IA. Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: Clinical and molecular correlates. Int J Cancer. 2013 132:1711-7 PMCID: PMC3558545 *corresponding author


  1. Imielinski M, Berger AH, Hammerman PS, Hernandez B, Pugh TJ, Hodis E, Cho J, Suh J, Capelletti M, Sivachenko A, Sougnez C, Auclair D, Lawrence MS, Stojanov P, Cibulskis K, Choi K, de Waal L, Sharifnia T, Brooks A, Greulich H, Banerji S, Zander T, Seidel D, Leenders F, Ansén S, Ludwig C, Engel-Riedel W, Stoelben E, Wolf J, Goparju C, Thompson K, Winckler W, Kwiatkowski DJ, Johnson BE, Jänne PA, Miller VA, Pao W, Travis WD, Pass HI, Gabriel SB, Lander ES, Thomas RK, Garraway LA, Getz G, Meyerson M. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell. 2012 Sep 14;150(6):1107-20. PMCID: PMC3557932


  1. Yuan E, Tsai PT, Greene-Colozzi E, Sahin M, Kwiatkowski DJ*, Malinowska IA. Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Hum Mol Genet. 2012 21(19):4286-300. PMCID: PMC3441124  *corresponding author
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