The University of North Carolina at Chapel Hill
Skip to main content
UNC School of Medicine | UNC Lineberger Comprehensive Cancer Center

Scientific Contributions

The Translational Genomics Lab (TGL) has supported more than 40 clinical trials, extracted nucleic acid from more than 20,000 samples, prepared more than 20,000 next generation libraries, sequenced more than 20,000 libraries, and performed more than 15,000 NanoString assays. Below are some selected publications and clinical trials that have utilized our services.

Selected Publications

  • Transcriptomic classification and clinicopathologic correlation of hepatocellular neoplasms with steatotic features in non-cirrhotic livers. Zhu LC, Patil SA, Kuhlers PC, Moon AM, Raab JR, Pfefferle AD, Hayward MC, Wielgus A, De la Cruz GE, Bantumilli S, Hoadley KA, Merker JD. Pathology. March 2026. PMID: 41956937
  • Protocols to evaluate mutant specificity of an oncogene-targeting siRNA using orthogonal in vitro and in vivo approaches. Stanland LJ, Porrello A, Egli M, Pecot CV. STAR Protocols. March 2026. PMID: 41511879
  • Talimogene laherparepvec and atezolizumab in HER2-negative breast cancer following neoadjuvant chemotherapy: a window-of-opportunity phase II trial (SOLTI-1503 PROMETEO). Pascual T, Vidal M, Cejalvo JM, Vega E, Sanfeliu E, Villacampa G, Ganau S, Parreño AMJ, Zamora E, Miranda I, Delgado A, Bermejo B, Seguí E, Brasó-Maristanty F, de la Cruz-Merino L, Juan M, Galván P, Gonzàlez-Farré X, Chillara S, Villagrasa P, Pfefferle AD, O’Connell CE, Ferrero-Cafiero JM, Oliveira M, Perou CM, Prat A. Nature Communications. February 2026. PMID: 41698899
  • Identifying Locally Recurrent Versus Second Primary Breast Cancer: Genomic Versus Clinical Criteria from Carolina Breast Cancer Study Phase III. Van Alsten SC, Love MI, Calhoun BC, Butler EN, Pfefferle AD, Kirk EL, Halloran CS, Zipple IW, Perou CM, Carey LA, Hoadley KA, Troester MA. Cancer Epidemiology, Biomarkers, and Prevention. February 2026. PMID: 41324404
  • Airway epithelial heterogeneity and mucus plugging in asthmatic bronchioles. Schworer SA, Murano H, Dang H, Markovetz MR, Saito M, Kato T, Asakura T, Chen G, Gilmore RC, Morton LC, Van Heusden C, Chua M, Strickler E, Wisniewski ZY, Crisp G, Mitchell E, Doherty KA, Mastan S, Trejo Bittar HE, Cody BA, Trudeau JB, De La Cruz G, Ralph LM, Askin FB, Panettieri RA, Koziol-White CJ, Byrd KM, Livraghi-Butrico A, O’Neal WK, Randell SH, Wenzel SE, Okuda K, Boucher RC. American Journal of Respiratory and Critical Care Medicine. February 2026. PMID: 40986379
  • Intra-tumoral hypoxia promotes CD8+ T cell dysfunction via chronic activation of integrated stress response transcription factor ATF4. Alicea Pauneto CDM, Riesenberg BP, Gandy EJ, Kennedy AS, Clutton GT, Hem JW, Hurst KE, Hunt EG, Green JM, Miller BC, Angus SP, Johnson GL, Esther RJ, Guerriero JL, Gao P, Soto-Pantoja DR, Ferris RL, Modliszewski JL, Coleman MF, Chung HK, Milner JJ, Moschos SJ, Wiseman RL, Thaxton JE. Immunity. October 2025. PMID: 41005293
  • Differential Localization of β-Catenin Protein in CTNNB1 Mutant Endometrial Cancers Results in Distinct Transcriptional Profiles. Parrish ML, Osborne-Frazier ML, Broaddus RR, Gladden AB. Modern Pathology. September 2025. PMID: 40348058
  • Racial differences in endometrial cancer genomics and outcomes using UNCseqTM targeted DNA sequencing. Newton MA, Merker JD, Gong W, Patil S, Tan X, Corcoran DL, Pfefferle AD, Hayward MC, Broaddus R, Nichols HB, Olshan AF, Weissman B, Keku TO, Bae-Jump V. Gynecologic Oncology Reports. August 2025. PMID: 40687919
  • Transcriptomic Predictors of Survival for Palbociclib + Endocrine Therapy Versus Capecitabine in Aromatase Inhibitor-Resistant Breast Cancer From the GEICAM/2013-02 PEARL Trial. Agrawal YN, Fernández-Martínez A, Gil-Gil M, Zielinski C, Ruiz-Borrego M, Ciruelos EM, Muñoz M, Margelí M, Bermejo B, Antón A, Kahan Z, Csöszi T, Alonso-Romero JL, García-Saenz JÁ, Sánchez-Rovira P, Álvarez E, Chacón JI, González-Santiago S, Rodríguez CA, Servitja S, Pfefferle AD, Herranz J, Liu Y, Carey LA, Romero-Camarero I, Caballero R, Guerrero-Zotano Á, Perou CM, Martín M. JCO Precision Oncology. July 2025. PMID: 40632974
  • Snord67 promotes breast cancer metastasis by guiding U6 modification and modulating the splicing landscape. Chao YL, Zhou KI, Forbes KK, Porrello A, Gentile GM, Zhu Y, Chack AC, John Mary DJS, Liu H, Cockman E, Edatt L, Goda GA, Zhao JJ, Abou Assi H, Wiedner HJ, Tsai Y, Wilkinson L, Van Swearingen AED, Carey LA, Giudice J, Dominguez D, Holley CL, Pecot CV. Nature Communication. May 2025. PMID: 40316533
  • A randomized phase II/III study of paclitaxel/carboplatin/metformin versus paclitaxel/carboplatin/placebo as initial therapy for measurable stage III or IVA, stage IVB, or recurrent endometrial cancer: An NRG oncology/GOG study. Bae-Jump VL, Sill MW, Gehrig PA, Merker JD, Corcoran DL, Pfefferle AD, Hayward MC, Walker JL, Hagemann AR, Waggoner SE, O’Cearbhaill RE, McDonald ME, Edelson MI, DiSilvestro PA, McNally AL, Fleury A, Littell RD, Ueland FR, Lankes HA, Aghajanian C. Gynecologic Oncology. March 2025. PMID: 40056832
  • Prognostic and molecular multi-platform analysis of CALGB 40603 (Alliance) and public triple-negative breast cancer datasets. Felsheim BM, Fernandez-Martinez A, Fan C, Pfefferle AD, Hayward MC, Hoadley KA, Rashid NU, Tolaney SM, Somlo G, Carey LA, Sikov WM, Perou CM. NPJ Breast Cancer. March 2025. PMID: 40057511
  • Molecular characterization of the salivary adenoid cystic carcinoma immune landscape by anatomic subsites. Tasoulas J, Schrank TP, Bharambe H, Mehta J, Johnson S, Divaris K, Hackman TG, Sheth S, Kirtane K, Hernandez-Prera JC, Chung C, Yarbrough WG, Ferrarotto R, Issaeva N, Theocharis S, Amelio AL. Scientific Reports. July 2024. PMID: 38982149
  • Cell-cycle inhibition and immune microenvironment in breast cancer treated with ribociclib and letrozole or chemotherapy. Pascual T, Fernandez-Martinez A, Agrawal A, Pfefferle AD, Chic N, Brasó-Maristany F, Gonzàlez-Farré B, Paré L, Villacampa G, Saura C, Hernando C, Muñoz M, Galván P, Gonzàlez-Farré X, Oliveira M, Gil-Gil M, Ciruelos E, Villagrasa P, Gavilá J, Prat A, Perou CM. NPJ Breast Cancer. March 2024. PMID: 38448600
  • Single-Cell Transcriptional and Epigenetic Profiles of Male Breast Cancer Nominate Salient Cancer-Specific Enhancers. Kim H, Wisniewska K, Regner MJ, Thennavan A, Spanheimer PM, Franco HL. International Journal of Molecular Sciences. August 2023. PMID: 37685859
  • Immune features are associated with response to neoadjuvant chemo-immunotherapy for muscle-invasive bladder cancer. Beckabir W, Zhou M, Lee JS, Vensko SP, Woodcock MG, Wang HH, Wobker SE, Atassi G, Wilkinson AD, Fowler K, Flick LM, Damrauer JS, Harrison MR, McKinnon KP, Rose TL, Milowsky MI, Serody JS, Kim WY, Vincent BG. Nature Communications. May 2023. PMID: 38789460
  • Prevalence and Mechanisms of Mucus Accumulation in COVID-19 Lung Disease. Kato T, Asakura1 T, Edwards CE, Dang H, Mikami1 Y, Okuda K, Chen G, Sun L, Gilmore RC, Hawkins P, De la Cruz G, Cooley MR, Bailey AB, Hewitt SM, Chertow DS, Borczuk AC, Salvatore S, Martinez FJ, Thorne LB, Askin FB, Ehre C, Randell SH, O’Neal WK, Baric RS, Boucher RC, and NIH COVID-19 Autopsy Consortium. American Journal of Respiratory Critical Care Medicine. December 2022. PMID: 35816430
  • Fibroblast growth factor receptor 3 alterations and response to immune checkpoint inhibition in metastatic urothelial cancer: a real world experience. Rose TL, Heir WH, Mayhew GM, Shibata Y, Eulitt P, Uronis JM, Zhou M, Nielsen M, Smith AB, Woods M, Hayward MC, Salazar AH, Milowsky MI, Wobker SE, McGinty K, Millburn MV, Eisner JR, Kim WY. British Journal of Cancer. October 2022. PMID: 34294892
  • Rapid idiosyncratic mechanisms of clinical resistance to KRAS G12C inhibition. Tsai YS, Woodcock MG, Azam SH, Thorne LB, Kanchi KL, Parker JS, Vincent BG, Pecot CV. The Journal of Clinical Investigation. October 2022. PMID: 34990404
  • Comprehensive Viral Genotyping Reveals Prognostic Viral Phylogenetic Groups in HPV16-Associated Squamous Cell Carcinoma of the Oropharynx. Schrank TP, Landess L, Stepp WH, Rehmani H, Weir WH, Lenze N, Lal A, Wu D, Kothari A, Hackman TG, Sheth S, Patel S, Jefferys SR, Issaeva N, Yarbrough WG. Molecular Cancer Research. February 2022. PMID: 35731223
  • Gene-Level Germline Contributions to Clinical Risk of Recurrence Scores in Black and White Patients with Breast Cancer. Patel A, García-Closas M, Olshan AF, Perou CM, Troester MA, Love MI, Bhattacharya A. Cancer Research. January 2022. PMID: 34711612
  • A multi-omic single-cell landscape of human gynecologic malignancies. Regner MJ, Wisniewska K, Garcia-Recio S, Thennavan A, Mendez-Giraldez R, Malladi VS, Hawkins G, Parker JS, Perou CM, Bae-Jump VL, Franco HL. Molecular Cell. December 2021.PMID: 34739872
  • Functional coordination of non-myocytes plays a key role in adult zebrafish heart regeneration. Ma H, Liu Z, Yang Y, Feng D, Dong Y, Garbutt TA, Hu Z, Wang L, Luan C, Cooper CD, Li Y, Welch JD, Qian L, Liu J. EMBO Reports. November 2021.PMID: 34523214
  • Single-Cell RNA Sequencing Reveals Endothelial Cell Transcriptome Heterogeneity Under Homeostatic Laminar Flow. Liu Z, Ruter DL, Quigley K, Tanke NT, Jiang Y, Bautch VL. Arteriosclerosis, Thrombosis, and Vascular Biology. July 2021.PMID: 34433297
  • An approach for normalization and quality control for NanoString RNA expression data. Bhattacharya A, Hamilton AM, Furberg H, Pietzak E, Purdue MP, Troester MA, Hoadley KA, Love MI. Briefings in Bioinformatics. May 2021. PMID: 32789507
  • Transcriptome-targeted analysis of human peripheral blood-derived macrophages when cultured on biomaterial meshes. Mora-Navarro C, Ozpinar EW, Sze D, Martin DP, Freytes DO. Biomedical Materials. March 2021. PMID: 33445160
  • CRTC1/MAML2 directs a PGC-1α-IGF-1 circuit that confers vulnerability to PPARγ inhibition. Musicant AM, Parag-Sharma K, Gong W, Sengupta M, Chatterjee A, Henry EC, Tsai YH, Hayward MC, Sheth S, Betancourt R, Hackman TG, Padilla RJ, Parker JS, Giudice J, Flaveny CA, Hayes DN, Amelio AL. Cell Reports. February 2021. PMID: 33626346
  • DeCompress: tissue compartment deconvolution of targeted mRNA expression panels using compressed sensing. Bhattacharya A, Hamilton AM, Troester MA, Love MI. Nucleic Acid Research. February 2021. PMID: 33524140
  • FGFR4 regulates tumor subtype differentiation in luminal breast cancer and metastatic disease. Garcia-Recio S, Thennavan A, East MP, Parker JS, Cejalvo JM, Garay JP, Hollern DP, He X, Mott KR, Galván P, Fan C, Selitsky SR, Coffey AR, Marron D, Brasó-Maristany F, Burgués O, Albanell J, Rojo F, Lluch A, Martinez de Dueñas E, Rosen JM, Johnson GL, Carey LA, Prat A, Perou CM. The Journal of Clinical Investigation. September 2020. PMID: 32573490
  • Bimodal age distribution at diagnosis in breast cancer persists across molecular and genomic classifications. Allott EH, Shan Y, Chen M, Sun X, Garcia-Recio S, Kirk EL, Olshan AF, Geradts J, Earp HS, Carey LA, Perou CM, Pfeiffer RM, Anderson WF, Troester MA. Breast Cancer Research and Treatment. January 2020. PMID: 31535320
  • A Phase I Trial of the PI3K Inhibitor Buparlisib Combined With Capecitabine in Patients With Metastatic Breast Cancer. McRee AJ, Marcom PK, Moore DT, Zamboni WC, Kornblum ZA, Hu Z, Phipps R,  Anders CK, Reeder-Hayes K, Carey LA, Weck KE, Perou CM,  Dees EC. Clinical Breast Cancer. October 2018. PMID: 29153866
  • TP53 protein levels, RNA-based pathway assessment, and race among invasive breast cancer cases. Williams LA, Butler EN, Sun X, Allott EH, Cohen SM, Fuller AM, Hoadley KA, Perou CM, Geradts J, Olshan AF, Troester MA. npj Breast Cancer. May 2018. PMID: 29951581
  • Racial Differences in PAM50 Subtypes in the Carolina Breast Cancer Study. Troester MA, Sun X, Allott EH, Geradts J, Cohen SM, Tse CK, Kirk EL, Thorne LB, Mathews M, Li Y, Hu Z, Robinson WR, Hoadley KA, Olopade OI, Reeder-Hayes KE, Earp HS, Olshan AF, Carey LA, Perou CM. Journal of the National Cancer Institute. February 2018. PMID: 28859290
  • Combined Targeted DNA Sequencing in Non-Small Cell Lung Cancer (NSCLC) Using UNCseq and NGScopy, and RNA Sequencing Using UNCqeR for the Detection of Genetic Aberrations in NSCLC. Zhao X, Wang A, Walter V, Patel NM, Eberhard DA, Hayward MC, Salazar AH, Jo H, Soloway MG, Wilkerson MD, Parker JS, Yin X, Zhang G, Siegel MB, Rosson GB, Earp HS, Sharpless NE, Gulley ML, Weck KE, Hayes DN, Moschos SJ. PLOS One. June 2015. PMID: 26076459

Selected Clinical Trials Supported

Cancer-related Trials

  • Breast Cancer

    • Metastatic Breast Cancer

      • NCT02768792

             Title: A Study of Trastuzumab Emtansine (T-DM1) in Combination With Pertuzumab and Trastuzumab in HER2-Positive Breast Cancer

             Sponsor: Genentech

             Goal: To evaluate the safety and efficacy of T-DM1 in combination with Pertuzumab and Trastuzumab in HER2-positive metastatic breast cancer.

      • NCT02768701

             Title: A Study of Trastuzumab Emtansine (T-DM1) in Combination With Pembrolizumab in HER2-Positive Breast Cancer

             Sponsor: Genentech

             Goal: To assess the combination of T-DM1 and Pembrolizumab in treating HER2-positive metastatic breast cancer.

    • Triple-Negative Breast Cancer (TNBC)

      • NCT04443348

             Title: A Study of Trodelvy (Sacituzumab Govitecan) in Combination With Pembrolizumab in Triple-Negative Breast Cancer (TNBC)

             Sponsor: Gilead Sciences

             Goal: To investigate the combination of Trodelvy and Pembrolizumab in patients with metastatic triple-negative breast cancer.

  • Liver Cancer

    • Hepatocellular Carcinoma (HCC)

      • NCT04266730

             Title: A Study of Atezolizumab and Bevacizumab in Hepatocellular Carcinoma (HCC)

             Sponsor: Roche

             Goal: To evaluate the effectiveness of Atezolizumab and Bevacizumab in patients with advanced hepatocellular carcinoma.

  • Leukemia & Lymphoma

    • Acute Myeloid Leukemia (AML)

      • NCT03709446

             Title: A Study of Venetoclax in Combination With Azacitidine in Acute Myeloid Leukemia (AML)

             Sponsor: Genentech

             Goal: To study the combination of Venetoclax and Azacitidine for treating patients with acute myeloid leukemia.

    • Chronic Lymphocytic Leukemia (CLL) / Small Lymphocytic Lymphoma (SLL)

      • NCT03977233

             Title: A Study of Venetoclax in Combination With Rituximab in CLL/SLL

             Sponsor: Genentech

             Goal: To evaluate the safety and efficacy of Venetoclax and Rituximab in chronic lymphocytic leukemia and small lymphocytic lymphoma.

  • Lung Cancer

    • Non-Small Cell Lung Cancer (NSCLC)

      • NCT06347068

             Title: A Study of Datopotamab Deruxtecan (Dato-DX) in Combination With Durvalumab in Advanced NSCLC

             Sponsor: AstraZeneca

             Goal: To evaluate the combination of Datopotamab Deruxtecan and Durvalumab in patients with advanced non-small cell lung cancer.

      • NCT05501704

             Title: A Study of Tiragolumab in Combination With Atezolizumab in Patients With NSCLC

             Sponsor: Genentech

             Goal: To assess the effectiveness of Tiragolumab and Atezolizumab in treating non-small cell lung cancer.

  • Prostate Cancer

    • NCT03819569

           Title: A Study of Apalutamide in Patients With High-Risk Prostate Cancer

           Sponsor: Janssen Biotech

           Goal: To investigate the efficacy of Apalutamide in preventing prostate cancer progression in high-risk patients.

  • Solid Tumors (General)

    • NCT06158139

           Title: A Study of AMG 510 in Combination With Other Targeted Therapies in Solid Tumors

           Sponsor: Amgen

           Goal: To assess the safety and effectiveness of AMG 510 in combination with other therapies in solid tumors.

    • NCT03978624

           Title: A Study of Anti-TIGIT Monoclonal Antibody in Combination With Atezolizumab in Solid Tumors

           Sponsor: Roche

           Goal: To explore the combination of anti-TIGIT monoclonal antibody and Atezolizumab in solid tumors.

    • NCT03977233

           Title: A Study of Venetoclax in Combination With Rituximab in CLL/SLL

           Sponsor: Genentech

           Goal: To study the combination of Venetoclax and Rituximab in solid tumors, focusing on chronic lymphocytic leukemia.

    • NCT03248427

           Title: A Study of Experimental Treatment in Patients With Solid Tumors

           Sponsor: Various

           Goal: To evaluate an experimental treatment in patients with advanced solid tumors.

Non-Cancer Trials

  • Autoimmune/Inflammatory Disorders

    • Plaque Psoriasis

      • NCT04997993

             Title: A Study of Bimekizumab in Plaque Psoriasis

             Sponsor: UCB Pharma

             Goal: To evaluate the safety and efficacy of Bimekizumab in patients with moderate-to-severe plaque psoriasis.

  • Genetic and Rare Diseases

    • NCT01099358

           Title: A Study of LUXTURNA for the Treatment of Inherited Retinal Disease

           Sponsor: Spark Therapeutics

           Goal: To assess the safety and effectiveness of LUXTURNA, a gene therapy for inherited retinal disease.

    • NCT03244384

           Title: A Study of Dystrophin Gene Therapy in Duchenne Muscular Dystrophy

           Sponsor: Solid Biosciences

           Goal: To test the safety and efficacy of gene therapy for Duchenne muscular dystrophy by delivering a functional dystrophin gene.

  • Infectious Diseases / Vaccines

    • COVID-19

      • NCT05375994

             Title: A Study to Evaluate the Safety and Efficacy of BNT162b2 in Special Populations

             Sponsor: Pfizer

             Goal: To evaluate the safety and efficacy of the Pfizer-BioNTech COVID-19 vaccine in special populations, including older adults and immunocompromised patients.

  • Liver Disease

    • Non-Alcoholic Steatohepatitis (NASH)

      • NCT04142060

             Title: A Study of Cenicriviroc in Non-Alcoholic Steatohepatitis (NASH)

             Sponsor: Allergan

             Goal: To assess the effectiveness of Cenicriviroc in treating patients with non-alcoholic steatohepatitis.

  • Neurological Disorders

    • Spinal Muscular Atrophy (SMA)

      • NCT05179824

             Title: A Study of Zolgensma in Patients With Spinal Muscular Atrophy (SMA)

             Sponsor: Novartis Gene Therapies

             Goal: To evaluate the safety and efficacy of Zolgensma, a gene therapy for spinal muscular atrophy.

  • Respiratory Diseases

    • Chronic Obstructive Pulmonary Disease (COPD)

      • NCT04564989

             Title: A Study of Roflumilast in COPD

             Sponsor: AbbVie

             Goal: To evaluate the safety and efficacy of Roflumilast in reducing COPD exacerbations in patients with severe COPD.