David J. Kwiatkowski, MD, PhD

David J. Kwiatkowski, MD, PhD

Medical Oncology

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Contact Information

Office Phone Number





877-332-4294 (new)
617-632-6190 (established)


David J. Kwiatkowski, MD, PhD

David Kwiatkowski is a Professor of Medicine at Harvard Medical School, and Senior Physician at Brigham and Women’s Hospital/Dana-Farber Cancer Institute. He earned a BSc from Caltech and a PhD from MIT, both in Mathematics. He received his MD degree from Columbia University, and received the Janeway Prize at graduation for the highest achievement and abilities in the graduating medical class. He pursued Internal Medicine and then Hematology-Oncology training at the Massachusetts General Hospital, and remained at MGH until 1991 when he moved to BWH/DFCI.  Dr. Kwiatkowski has specialized in thoracic oncology, and has broad interests in all types of thoracic malignancies, including lung cancer, thymic cancer, and mesothelioma.  He is a self-trained human and cancer geneticist, and has been the leader of the Dana-Farber/Harvard Cancer Center Cancer Genetics program since 2007.  He is an Associate Member of the Broad Institute, and an active participant in The Cancer Genome Atlas (TCGA), working on multiple cancer types and programs.  His current patient research interests are: personalized/targeted treatment of cancers according to their mutations, targeting the mTOR pathway in cancer, and mesothelioma therapeutic development and treatment.  He has a much deeper familiarity with mesothelioma than the average thoracic oncologist, and sees many patients on referral from around the country.



Senior Physician
Professor of Medicine, Harvard Medical School


Clinical Interests

Cancer genetics, Lung cancer, Mesothelioma, Personalized and targeted therapies for lung cancer and mesothelioma

Board Certification

  • Internal Medicine, 1982
  • Medical Oncology, 1985


  • Massachusetts General Hospital, Hematology & Oncology


  • Massachusetts General Hospital, Internal Medicine

Medical School

  • Columbia University College of Physicians & Surgeons

Recent Awards

  • Professor of Medicine, Harvard Medical School; Senior Physician, BWH, DFCI


  • NIH NINDS Javits Neuroscience Investigator Award


  • Program Leader, Dana Farber Harvard Cancer Center Cancer Genetics Program


  • The LAM Foundation Scientific Advancement Award


  • Manuel R. Gomez Award of the Tuberous Sclerosis Alliance


  • Harvard Medical School Excellence in Tutoring Award, 2010, 2011

    2010, 2011


    mTOR signaling in cancer: therapeutic target

    I have broad interests in human cancer genetics, and have been Program Leader for the DFHCC Cancer Genetics program for the past 8 years.  I am an Associate Member of the Broad Institute, and have been active in multiple NCI TCGA (The Cancer Genome Atlas) projects, including adenocarcinoma and squamous cell carcinoma of the lung, bladder cancer, kidney chromophobe cancer, mesothelioma, and pathway analyses.
    It has become apparent that a variety of cancers (partially due to our analyses) have mutations in TSC1 or TSC2 at rates of 1 – 10%. Moreover, in some cases TSC1/TSC2-mutant cancers are highly sensitive to treatment with rapalogs, with durable CRs lasting several years. We are studying these patients to elucidate the genetic and other determinants of response to rapalogs, and investigating synergistic treatment approaches. I am the PI of a Novartis-sponsored Investigator-initiated trial to treat all cancers with mutations in either TSC1 or TSC2 with everolimus. A variety of correlative genetic studies will be done as part of that trial.

    We generated a mouse model of mesothelioma due to mutation and loss of Tsc1, and demonstrated that these tumors were highly sensitive to treatment with rapalogs.  We also demonstrated some degree of mTOR activation in both mesothelioma cell lines and resected patient mesotheliomas.  This has led to enhanced interest in therapeutic strategies for mesothelioma, which although a rare malignancy overall, is commonly seen at BWH/DFCI.  I am engaged in several efforts to develop novel therapeutic approaches and clinical trials for mesothelioma.

    Research Departments


      • Bi-steric mTORC1 inhibitors induce apoptotic cell death in tumor models with hyperactivated mTORC1. J Clin Invest. 2023 Nov 01; 133(21). View in: Pubmed

      • MRTX1719 Is an MTA-Cooperative PRMT5 Inhibitor That Exhibits Synthetic Lethality in Preclinical Models and Patients with MTAP-Deleted Cancer. Cancer Discov. 2023 11 01; 13(11):2412-2431. View in: Pubmed

      • Author Correction: Neoadjuvant atezolizumab for resectable non-small cell lung cancer: an open-label, single-arm phase II trial. Nat Med. 2023 Oct 10. View in: Pubmed

      • Enzyme-mediated depletion of methylthioadenosine restores T cell function in MTAP-deficient tumors and reverses immunotherapy resistance. Cancer Cell. 2023 10 09; 41(10):1774-1787.e9. View in: Pubmed

      • High-dose IV magnesium in mesothelioma patients receiving surgery with hyperthermic intraoperative cisplatin: Pilot studies and design of a phase II randomized clinical trial. J Surg Oncol. 2023 Dec; 128(7):1141-1149. View in: Pubmed

      • TSC2 inactivation, low mutation burden and high macrophage infiltration characterise hepatic angiomyolipomas. Histopathology. 2023 Oct; 83(4):569-581. View in: Pubmed

      • Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex. Am J Hum Genet. 2023 06 01; 110(6):979-988. View in: Pubmed

      • Machine learning-based immune phenotypes correlate with STK11/KEAP1 co-mutations and prognosis in resectable NSCLC: a sub-study of the TNM-I trial. Ann Oncol. 2023 Jul; 34(7):578-588. View in: Pubmed

      • mTORC1 upregulates B7-H3/CD276 to inhibit antitumor T cells and drive tumor immune evasion. Nat Commun. 2023 03 03; 14(1):1214. View in: Pubmed

      • Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex. Front Genet. 2022; 13:917993. View in: Pubmed

      • Epigenomic charting and functional annotation of risk loci in renal cell carcinoma. Nat Commun. 2023 Jan 21; 14(1):346. View in: Pubmed

      • Features of tumor-microenvironment images predict targeted therapy survival benefit in patients with EGFR-mutant lung cancer. J Clin Invest. 2023 01 17; 133(2). View in: Pubmed

      • Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings. JID Innov. 2023 Mar; 3(2):100180. View in: Pubmed

      • Association of Machine Learning-Based Assessment of Tumor-Infiltrating Lymphocytes on Standard Histologic Images With Outcomes of Immunotherapy in Patients With NSCLC. JAMA Oncol. 2023 01 01; 9(1):51-60. View in: Pubmed

      • Reciprocal effects of mTOR inhibitors on pro-survival proteins dictate therapeutic responses in tuberous sclerosis complex. iScience. 2022 Nov 18; 25(11):105458. View in: Pubmed

      • Surgical results of the Lung Cancer Mutation Consortium 3 trial: A phase II multicenter single-arm study to investigate the efficacy and safety of atezolizumab as neoadjuvant therapy in patients with stages IB-select IIIB resectable non-small cell lung cancer. J Thorac Cardiovasc Surg. 2023 03; 165(3):828-839.e5. View in: Pubmed

      • Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors. Cancer Cell. 2022 10 10; 40(10):1161-1172.e5. View in: Pubmed

      • Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. Sci Rep. 2022 Sep 14; 12(1):15457. View in: Pubmed

      • Neoadjuvant atezolizumab for resectable non-small cell lung cancer: an open-label, single-arm phase II trial. Nat Med. 2022 10; 28(10):2155-2161. View in: Pubmed

      • Lymphangioleiomyomatosis (LAM) Cell Atlas. Thorax. 2023 01; 78(1):85-87. View in: Pubmed

      • Procedural Outcomes of Pulmonary Atresia With Intact Ventricular Septum in Neonates: A Multicenter Study. Ann Thorac Surg. 2023 06; 115(6):1470-1477. View in: Pubmed

      • Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk. Annu Rev Genomics Hum Genet. 2022 08 31; 23:331-361. View in: Pubmed

      • Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes. Clin Genitourin Cancer. 2022 Dec; 20(6):568-574. View in: Pubmed

      • Midkine expression by stem-like tumor cells drives persistence to mTOR inhibition and an immune-suppressive microenvironment. Nat Commun. 2022 08 26; 13(1):5018. View in: Pubmed

      • miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex. Biomedicines. 2022 Jul 29; 10(8). View in: Pubmed

      • Pulmonary Atresia with Intact Ventricular Septum: Midterm Outcomes from a Multicenter Cohort. Pediatr Cardiol. 2022 Jun 25. View in: Pubmed

      • Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex. J Clin Invest. 2022 05 16; 132(10). View in: Pubmed

      • Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology. Genome Med. 2022 04 15; 14(1):39. View in: Pubmed

      • Biomarker-Based Phase II Study of Sapanisertib (TAK-228): An mTORC1/2 Inhibitor in Patients With Refractory Metastatic Renal Cell Carcinoma. JCO Precis Oncol. 2022 02; 6:e2100448. View in: Pubmed

      • Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex. Neurology. 2022 03 22; 98(12):e1216-e1225. View in: Pubmed

      • Evidence for shared genetic risk factors between lymphangioleiomyomatosis and pulmonary function. ERJ Open Res. 2022 Jan; 8(1). View in: Pubmed

      • Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period. J Neurodev Disord. 2022 01 15; 14(1):8. View in: Pubmed

      • Standardized Training for Physicians Practicing Pediatric Cardiac Critical Care. Pediatr Crit Care Med. 2022 01 01; 23(1):60-64. View in: Pubmed

      • CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer. Br J Cancer. 2022 03; 126(5):797-803. View in: Pubmed

      • RAF1 amplification drives a subset of bladder tumors and confers sensitivity to MAPK-directed therapeutics. J Clin Invest. 2021 11 15; 131(22). View in: Pubmed

      • A tissue-bioengineering strategy for modeling rare human kidney diseases in vivo. Nat Commun. 2021 11 11; 12(1):6496. View in: Pubmed

      • FGFR2/3 genomic alterations and response to Enfortumab Vedotin in metastatic urothelial carcinoma. BJUI Compass. 2022 Mar; 3(2):169-172. View in: Pubmed

      • Synergistic antitumor activity of pan-PI3K inhibition and immune checkpoint blockade in bladder cancer. J Immunother Cancer. 2021 11; 9(11). View in: Pubmed

      • nab-Sirolimus for Patients With Malignant Perivascular Epithelioid Cell Tumors. J Clin Oncol. 2021 11 20; 39(33):3660-3670. View in: Pubmed

      • Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex. J Med Genet. 2022 09; 59(9):920-923. View in: Pubmed

      • Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study. Dev Med Child Neurol. 2022 04; 64(4):495-501. View in: Pubmed

      • Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2021 Oct; 23(10):2022. View in: Pubmed

      • MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis. Neuropathol Appl Neurobiol. 2021 10; 47(6):796-811. View in: Pubmed

      • CDKN2A Alterations and Response to Immunotherapy in Solid Tumors. Clin Cancer Res. 2021 07 15; 27(14):4025-4035. View in: Pubmed

      • Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex. Ann Am Thorac Soc. 2021 05; 18(5):815-819. View in: Pubmed

      • Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer. PLoS One. 2021; 16(4):e0248380. View in: Pubmed

      • Trans-ethnic variation in germline variants of patients with renal cell carcinoma. Cell Rep. 2021 03 30; 34(13):108926. View in: Pubmed

      • Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes. Epilepsia. 2021 05; 62(5):1208-1219. View in: Pubmed

      • Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations. Clin Cancer Res. 2021 07 15; 27(14):3845-3853. View in: Pubmed

      • Tertiary lymphoid structure score: a promising approach to refine the TNM staging in resected non-small cell lung cancer. Br J Cancer. 2021 05; 124(10):1680-1689. View in: Pubmed

      • Whole-genome characterization of lung adenocarcinomas lacking alterations in the RTK/RAS/RAF pathway. Cell Rep. 2021 Feb 23; 34(8):108784. View in: Pubmed

      • Therapeutic Targeting of DGKA-Mediated Macropinocytosis Leads to Phospholipid Reprogramming in Tuberous Sclerosis Complex. Cancer Res. 2021 04 15; 81(8):2086-2100. View in: Pubmed

      • mTORC1 hyperactivation in lymphangioleiomyomatosis leads to ACE2 upregulation in type II pneumocytes: implications for COVID-19. Eur Respir J. 2021 02; 57(2). View in: Pubmed

      • Whole-genome characterization of lung adenocarcinomas lacking the RTK/RAS/RAF pathway. Cell Rep. 2021 02 02; 34(5):108707. View in: Pubmed

      • Distribution of KRASG12C Somatic Mutations across Race, Sex, and Cancer Type. N Engl J Med. 2021 01 14; 384(2):185-187. View in: Pubmed

      • Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin. Sci Adv. 2021 01; 7(2). View in: Pubmed

      • Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial. Ann Neurol. 2021 02; 89(2):304-314. View in: Pubmed

      • Single-Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell. Am J Respir Crit Care Med. 2020 11 15; 202(10):1373-1387. View in: Pubmed

      • MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61. Oncogene. 2021 01; 40(1):112-126. View in: Pubmed

      • Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics. Front Neurol. 2020; 11:582891. View in: Pubmed

      • Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. Mod Pathol. 2021 02; 34(2):264-279. View in: Pubmed

      • Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers. J Neuropathol Exp Neurol. 2020 10 01; 79(10):1054-1064. View in: Pubmed

      • Round Robin Evaluation of MET Protein Expression in Lung Adenocarcinomas Improves Interobserver Concordance. Appl Immunohistochem Mol Morphol. 2020 10; 28(9):669-677. View in: Pubmed

      • Genomic Predictors of Good Outcome, Recurrence, or Progression in High-Grade T1 Non-Muscle-Invasive Bladder Cancer. Cancer Res. 2020 10 15; 80(20):4476-4486. View in: Pubmed

      • Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex? Ann Clin Transl Neurol. 2020 08; 7(8):1371-1381. View in: Pubmed

      • Systemic Absorption of Lidocaine from Continuous Erector Spinae Plane Catheters After Congenital Cardiac Surgery: A Retrospective Study. J Cardiothorac Vasc Anesth. 2020 Nov; 34(11):2986-2993. View in: Pubmed

      • TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genet Med. 2020 09; 22(9):1489-1497. View in: Pubmed

      • Celecoxib in lymphangioleiomyomatosis: results of a phase I clinical trial. Eur Respir J. 2020 05; 55(5). View in: Pubmed

      • Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma. Genet Med. 2020 08; 22(8):1366-1373. View in: Pubmed

      • Mammalian SWI/SNF Complex Genomic Alterations and Immune Checkpoint Blockade in Solid Tumors. Cancer Immunol Res. 2020 08; 8(8):1075-1084. View in: Pubmed

      • Reply To Kenneth B. Yatai, Mark J. Dunning, Dennis Wang. Consensus Genomic Subtypes of Muscle-invasive Bladder Cancer: A Step in the Right Direction but Still a Long Way To Go. Eur Urol 2020;77:434-5. Eur Urol. 2020 04; 77(4):436-438. View in: Pubmed

      • A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma. Br J Cancer. 2020 02; 122(4):555-563. View in: Pubmed

      • Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. Genet Med. 2020 04; 22(4):709-718. View in: Pubmed

      • Facing Uncertainty. N Engl J Med. 2019 Dec 05; 381(23):2253-2259. View in: Pubmed

      • Facing Uncertainty. N Engl J Med. 2019 Nov 28; 381(22):e39. View in: Pubmed

      • Mutations and Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma. Mol Cancer Ther. 2020 02; 19(2):690-696. View in: Pubmed

      • Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis. Eur Respir J. 2019 10; 54(4). View in: Pubmed

      • Tumors with TSC mutations are sensitive to CDK7 inhibition through NRF2 and glutathione depletion. J Exp Med. 2019 11 04; 216(11):2635-2652. View in: Pubmed

      • A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults. Br J Dermatol. 2020 01; 182(1):235-237. View in: Pubmed

      • Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1. Mol Ther Methods Clin Dev. 2019 Dec 13; 15:18-26. View in: Pubmed

      • A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis. Eur Respir J. 2019 06; 53(6). View in: Pubmed

      • MET IHC Is a Poor Screen for MET Amplification or MET Exon 14 Mutations in Lung Adenocarcinomas: Data from a Tri-Institutional Cohort of the Lung Cancer Mutation Consortium. J Thorac Oncol. 2019 09; 14(9):1666-1671. View in: Pubmed

      • Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2019 11; 21(11):2639-2643. View in: Pubmed

      • Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study. J Clin Med. 2019 Jun 03; 8(6). View in: Pubmed

      • Phenotypic distinctions between mosaic forms of tuberous sclerosis complex. Genet Med. 2019 11; 21(11):2594-2604. View in: Pubmed

      • The Codon 72 TP53 Polymorphism Contributes to TSC Tumorigenesis through the Notch-Nodal Axis. Mol Cancer Res. 2019 08; 17(8):1639-1651. View in: Pubmed

      • Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019 08 31; 20:217-240. View in: Pubmed

      • The Cancer Genome Atlas Expression Subtypes Stratify Response to Checkpoint Inhibition in Advanced Urothelial Cancer and Identify a Subset of Patients with High Survival Probability. Eur Urol. 2019 06; 75(6):961-964. View in: Pubmed

      • MCL1 and DEDD Promote Urothelial Carcinoma Progression. Mol Cancer Res. 2019 06; 17(6):1294-1304. View in: Pubmed

      • Characteristics and Outcomes of Patients With Metastatic KRAS-Mutant Lung Adenocarcinomas: The Lung Cancer Mutation Consortium Experience. J Thorac Oncol. 2019 05; 14(5):876-889. View in: Pubmed

      • Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites. Clin Cancer Res. 2019 04 15; 25(8):2458-2470. View in: Pubmed

      • A novel mouse model of hemangiopericytoma due to loss of Tsc2. Hum Mol Genet. 2018 12 15; 27(24):4169-4175. View in: Pubmed

      • Assessment of Resistance Mechanisms and Clinical Implications in Patients With EGFR T790M-Positive Lung Cancer and Acquired Resistance to Osimertinib. JAMA Oncol. 2018 11 01; 4(11):1527-1534. View in: Pubmed

      • Integrative Molecular Characterization of Malignant Pleural Mesothelioma. Cancer Discov. 2018 12; 8(12):1548-1565. View in: Pubmed

      • Mechanisms of acquired resistance to rapalogs in metastatic renal cell carcinoma. PLoS Genet. 2018 09; 14(9):e1007679. View in: Pubmed

      • Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer. Cell. 2018 08 09; 174(4):1033. View in: Pubmed

      • Sequential Response to FGFR3 Inhibition With Subsequent Exceptional Response to Atezolizumab in a Patient With FGFR3-TACC3 Fusion-Positive Metastatic Urothelial Carcinoma. JCO Precis Oncol. 2018; 2. View in: Pubmed

      • The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep. 2018 Jun 19; 23(12):3698. View in: Pubmed

      • Impairment of gamma-glutamyl transferase 1 activity in the metabolic pathogenesis of chromophobe renal cell carcinoma. Proc Natl Acad Sci U S A. 2018 07 03; 115(27):E6274-E6282. View in: Pubmed

      • Enrichment of FGFR3-TACC3 Fusions in Patients With Bladder Cancer Who Are Young, Asian, or Have Never Smoked. JCO Precis Oncol. 2018; 2. View in: Pubmed

      • TSC2 regulates microRNA biogenesis via mTORC1 and GSK3ß. Hum Mol Genet. 2018 05 01; 27(9):1654-1663. View in: Pubmed

      • Comprehensive Genomic Profiling of Metastatic Tumors in a Phase 2 Biomarker Study of Everolimus in Advanced Renal Cell Carcinoma. Clin Genitourin Cancer. 2018 10; 16(5):341-348. View in: Pubmed

      • RAS-MAPK Reactivation Facilitates Acquired Resistance in FGFR1-Amplified Lung Cancer and Underlies a Rationale for Upfront FGFR-MEK Blockade. Mol Cancer Ther. 2018 07; 17(7):1526-1539. View in: Pubmed

      • The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep. 2018 04 03; 23(1):313-326.e5. View in: Pubmed

      • Pan-Cancer Molecular Classes Transcending Tumor Lineage Across 32 Cancer Types, Multiple Data Platforms, and over 10,000 Cases. Clin Cancer Res. 2018 05 01; 24(9):2182-2193. View in: Pubmed

      • Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. J Thorac Oncol. 2018 03; 13(3):323-358. View in: Pubmed

      • Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. J Mol Diagn. 2018 03; 20(2):129-159. View in: Pubmed

      • Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. Arch Pathol Lab Med. 2018 Mar; 142(3):321-346. View in: Pubmed

      • Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep. 2017 12 26; 21(13):3754-3766. View in: Pubmed

      • The Impact of Smoking and TP53 Mutations in Lung Adenocarcinoma Patients with Targetable Mutations-The Lung Cancer Mutation Consortium (LCMC2). Clin Cancer Res. 2018 03 01; 24(5):1038-1047. View in: Pubmed

      • mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex. Neuropsychopharmacology. 2018 05; 43(6):1457-1465. View in: Pubmed

      • Notch transactivates Rheb to maintain the multipotency of TSC-null cells. Nat Commun. 2017 11 29; 8(1):1848. View in: Pubmed

      • mTORC1 Couples Nucleotide Synthesis to Nucleotide Demand Resulting in a Targetable Metabolic Vulnerability. Cancer Cell. 2017 11 13; 32(5):624-638.e5. View in: Pubmed

      • Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer. Cell. 2017 Oct 19; 171(3):540-556.e25. View in: Pubmed

      • Genomic Activation of PPARG Reveals a Candidate Therapeutic Axis in Bladder Cancer. Cancer Res. 2017 12 15; 77(24):6987-6998. View in: Pubmed

      • Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. Oncotarget. 2017 Nov 10; 8(56):95516-95529. View in: Pubmed

      • Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis. Cancer Res. 2017 10 15; 77(20):5491-5502. View in: Pubmed

      • Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. Sci Rep. 2017 08 14; 7(1):8089. View in: Pubmed

      • Rapamycin-induced miR-21 promotes mitochondrial homeostasis and adaptation in mTORC1 activated cells. Oncotarget. 2017 Sep 12; 8(39):64714-64727. View in: Pubmed

      • Tuberin Regulates Prostaglandin Receptor-Mediated Viability, via Rheb, in mTORC1-Hyperactive Cells. Mol Cancer Res. 2017 10; 15(10):1318-1330. View in: Pubmed

      • Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation. Ann Am Thorac Soc. 2017 07; 14(7):1227-1229. View in: Pubmed

      • Erratum: Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2. Nat Commun. 2017 06 09; 8:15901. View in: Pubmed

      • Environmental noise spectroscopy with qubits subjected to dynamical decoupling. J Phys Condens Matter. 2017 Aug 23; 29(33):333001. View in: Pubmed

      • A Pan-Cancer Proteogenomic Atlas of PI3K/AKT/mTOR Pathway Alterations. Cancer Cell. 2017 06 12; 31(6):820-832.e3. View in: Pubmed

      • Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2. Nat Commun. 2017 04 07; 8:14922. View in: Pubmed

      • Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation. J Clin Invest. 2017 01 03; 127(1):349-364. View in: Pubmed

      • Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex. PLoS One. 2016; 11(12):e0167384. View in: Pubmed

      • Institutional implementation of clinical tumor profiling on an unselected cancer population. JCI Insight. 2016 11 17; 1(19):e87062. View in: Pubmed

      • Pancreatic PEComa is a novel member of the family of tuberous sclerosis complex-associated tumors: case report and review of the literature. Virchows Arch. 2016 Dec; 469(6):707-710. View in: Pubmed

      • Seizures in tuberous sclerosis complex: hitting the target. Lancet. 2016 10 29; 388(10056):2062-2064. View in: Pubmed

      • Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. PLoS Genet. 2016 08; 12(8):e1006242. View in: Pubmed

      • Inhibition of MAPK pathway is essential for suppressing Rheb-Y35N driven tumor growth. Oncogene. 2017 02 09; 36(6):756-765. View in: Pubmed

      • Whole-Exome Sequencing in Two Extreme Phenotypes of Response to VEGF-Targeted Therapies in Patients With Metastatic Clear Cell Renal Cell Carcinoma. J Natl Compr Canc Netw. 2016 07; 14(7):820-4. View in: Pubmed

      • Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas. Nat Genet. 2016 06; 48(6):607-16. View in: Pubmed

      • Summary and Recommendations from the National Cancer Institute's Clinical Trials Planning Meeting on Novel Therapeutics for Non-Muscle Invasive Bladder Cancer. Bladder Cancer. 2016 Apr 27; 2(2):165-202. View in: Pubmed

      • Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors. Nat Genet. 2016 06; 48(6):600-606. View in: Pubmed

      • Pharmacogenomic Markers of Targeted Therapy Toxicity in Patients with Metastatic Renal Cell Carcinoma. Eur Urol Focus. 2016 Dec 15; 2(6):633-639. View in: Pubmed

      • Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. Pediatr Neurol. 2016 07; 60:1-12. View in: Pubmed

      • Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Rep. 2016 Mar 15; 14(10):2476-89. View in: Pubmed

      • Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma. Clin Cancer Res. 2016 05 15; 22(10):2445-2452. View in: Pubmed

      • Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex. J Invest Dermatol. 2016 Feb; 136(2):535-538. View in: Pubmed

      • Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet. 2015 Nov; 11(11):e1005637. View in: Pubmed

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      • Actin-binding protein requirement for cortical stability and efficient locomotion. Science. 1992 Jan 17; 255(5042):325-7. View in: Pubmed

      • Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Am J Hum Genet. 1991 Oct; 49(4):764-72. View in: Pubmed

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      75 Francis Street Boston, MA 02115
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      Brigham and Women's Hospital

      Location Avtar

      Brigham and Women's Hospital

      75 Francis Street One Blackfan Circle 6-216 Boston, MA 02215
      Get Direction
      42.3362, -71.1067

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