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Luis Alberto Diaz, Jr, M.D.

Photo of Dr. Luis Alberto Diaz, Jr, M.D.

Associate Professor of Oncology


Languages: English, Spanish

Expertise: Colorectal Cancer, Medical Oncology, Pancreatic Cancer

Research Interests: pancreas cancer; colon cancer; Gastrointestinal cancers

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Johns Hopkins Sidney Kimmel Comprehensive Cancer Center
Appointment Phone: 410-955-8964

401 N. Broadway
Baltimore, MD 21231 map
Phone: 410-955-8964


Dr. Luis Diaz is an associate professor of oncology at the Johns Hopkins University School of Medicine and member of the Johns Hopkins Kimmel Cancer Center. He has pioneered several genomic diagnostic and therapeutic approaches for cancer. He is an attending physician at the Johns Hopkins Hospital where he specializes in the treatment of pancreatic and colorectal cancers. He is currently a member of the Ludwig Center for Cancer Genetics and Therapeutics where he directs translational medicine and is the Director of the Swim Across America Laboratory. Dr. Diaz has undergraduate and medical degrees from the University of Michigan, and completed residency training at the Osler Medical Service at Johns Hopkins and medical oncology training at the Johns Hopkins Kimmel Cancer Center.

Dr. Diaz is involved in translational research studies with the goal of bringing diagnostic and therapeutic genomic strategies to patients with cancer. His work has involved the clinical development of tumor-derived DNA as a biomarker for cancer screening, early detection, monitoring and measurement of early residual disease. The work is based on the well-accepted premise that cancer is defined by a discrete set of genetic alterations. This approach combines next-generation genomic sequencing with novel digital techniques to count tumor-derived DNA fragments in complex mixtures of DNA. He has demonstrated that the level of mutations circulating in blood, also known as circulating tumor DNA (ctDNA), tracked with fluctuations in tumor burden in patients undergoing curative surgery for colorectal cancer. 

Most striking is the ability of ctDNA to accurately predict recurrence after surgery and monitor patients with undetectable CEA levels. This novel biomarker is based on personalized genomics that in essence provides a viral load equivalent for patients with solid tumors. The preliminary studies served as the basis for his invention, the molecular pap smear, which is a promising approach for the early detection of ovarian and endometrial cancers. This work was highlighted in the New York Times, NPR, CNN and NBC Nightly News. more


  • Associate Professor of Oncology

Departments / Divisions



  • MD, University of Michigan Medical School (1998)


  • Johns Hopkins University School of Medicine / Internal Medicine (2001)


  • Johns Hopkins University School of Medicine / Oncology (2003)
  • Johns Hopkins University School of Medicine / Oncology (2004)

Research & Publications

Lab Website: Swim Across America Laboratory

Clinical Trial Keywords

colon cancer, pancreas cancer, GI cancers, molecular diagnostics, experimental therapeutics

Selected Publications

View all on Pubmed


Leary, Rebecca J, Mark Sausen, Isaac Kinde, Nickolas Papadopoulos, John D. Carpten, David Craig, Joyce OShaughnessy, Kenneth W. Kinzler, Giovanni Parmigiani, Bert Vogelstein, Luis A. Diaz and Victor E. Velculescu. Detection of Chromosomal Alterations in the Circulation of Cancer Patients with Whole-Genome Sequencing. Sci Transl Med 28 November 2012: Vol. 4, Issue 162, p. 162ra154. PMID: 23197571.

Sausen M, Leary RJ, Jones S, Wu J, Reynolds CP, Liu X, Blackford A, Parmigiani G, Diaz LA Jr, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE, Hogarty MD. Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. Nat Genet. 2012 Dec 2. PMID: 23202128

Kinde I, Bettegowda C, Wang Y, Wu J, Agrawal N, Shih IeM, Kurman R, Dao F, Levine DA, Giuntoli R, Roden R, Eshleman JR, Carvalho JP, Marie SK, Papadopoulos N, Kinzler KW, Vogelstein B, Diaz LA Jr. Evaluation of DNA from the papanicolaou test to detect ovarian and endometrial cancers. Sci Transl. Med. 5(167):167ra4 2013 Jan 9 PMID: 23303603.

Diaz, LA Jr, Richard T. Williams, Jian Wu, Isaac Kinde, J. Randolph Hecht, Jordan Berlin, Benjamin Allen, Ivana Bozic, Johannes G. Reiter, Martin A. Nowak, Kenneth W. Kinzler, Kelly S. Oliner & Bert Vogelstein. The molecular evolution of acquired resistance to targeted EGFR blockade in colorectal cancers. Nature. 486, 537540.

Velculescu VE, Diaz LA Jr. Understanding the enemy. Sci Transl Med. 2011 Aug 31;3(98):98ps37. PMID: 21885403.

Wu J, Matthaei H, Maitra A, Dal Molin M, Wood LD, Eshleman JR, Goggins M, Canto MI, Schulick RD, Edil BH, Wolfgang CL, Klein AP, Diaz LA Jr, Allen PJ, Schmidt CM, Kinzler KW, Papadopoulos N, Hruban RH, Vogelstein B. Recurrent GNAS Mutations Define an Unexpected Pathway for Pancreatic Cyst Development. Sci Transl Med. 2011 Jul 20;3(92):92ra66. PMID: 21775669.

Jiao Y, Shi C, Edil BH, de Wilde RF, Klimstra DS, Maitra A, Schulick RD, Tang LH, Wolfgang CL, Choti MA, Velculescu VE, Diaz LA Jr, Vogelstein B, Kinzler KW, Hruban RH, Papadopoulos N. DAXX/ATRX, MEN1, and mTOR Pathway Genes Are Frequently Altered in Pancreatic Neuroendocrine Tumors. Science 2011 Jan 20. PMID: 21252315.

Jones S, Wang TL, Shih IM, Mao TL, Nakayama K, Roden R, Glas R, Slamon D, Diaz LA Jr, Vogelstein B, Kinzler KW, Velculescu VE, Papadopoulos N. Frequent Mutations of Chromatin Remodeling Gene ARID1A in Ovarian Clear Cell Carcinoma. Science. 2010 Sep 8. PMID: 20826764.

He Y, Wu J, Dressman DC, Iacobuzio-Donahue C, Markowitz SD, Velculescu VE, Diaz LA Jr, Kinzler KW, Vogelstein B, Papadopoulos N. Heteroplasmic mitochondrial DNA mutations in normal and tumour cells. Nature. 2010 Mar 25;464(7288):610-4. PMID: 20200521.

Rebecca J. Leary, Isaac Kinde, Frank Diehl, Kerstin Schmidt, Chris Clouser, Cisilya Duncan, Alena Antipova, Clarence Lee, Kevin McKernan, Francisco M. De La Vega, Kenneth W. Kinzler, Bert Vogelstein, Luis A. Diaz Jr., Victor E. Velculescu. Development of Personalized Tumor Biomarkers Using Massively Parallel Sequencing. Sci Transl Med. 2010 Feb 24;2(20):20ra14. PMID: 20371490.

Holdhoff M, Schmidt K, Donehower R, Diaz LA Jr. Analysis of Circulating Tumor DNA to Confirm Somatic KRAS Mutations. J Natl Cancer Inst. 2009 Jul 29. PMID: 19641175.

Meng Li, Wei-dong Chen, Nickolas Papadopoulos, Steven Goodman,Niels Christian Bjerregaard, Sren Laurberg, Bernard Levin, Hartmut Juhl, Nadir Arber, Helen Moinova, Kris Durkee, Kerstin Schmidt, Yiping He, Frank Diehl, Victor E Velculescu, Shibin Zhou1, Luis A Diaz, Jr, Kenneth W Kinzler, Sanford D Markowitz, Bert Vogelstein. Digital quantification of DNA methylation in plasma and stool samples. Nat Biotechnol. 2009 Aug 16. PMID: 19684580.

Jihye Yun, Carlo Rago, Ian Cheong, Ray Pagliarini, Philipp Angenendt, Harith Rajagopalan, Kerstin Schmidt, James K. V. Wilson, Sandy Markowitz, Shibin Zhou, Luis A. Diaz, Jr, Victor Velculescu, Christoph Lengauer, Kenneth W. Kinzler, Bert Vogelstein, Nickolas Papadopoulos. Glucose Deprivation Contributes to the Development of KRAS Pathway Mutations in Tumor Cells. Science. 2009 Aug 6. PMID: 19661383.

Parsons DW, Jones S, Zhang X, Lin JC-H, Leary RJ, Angenendt P, Mankoo P, Carter H, Siu I-M, Gallia G, Olivi A, McLendon R, Rasheed BA, Keir S, Nikolskaya T, Nikolsky Y, Busam DA, Tekleab H, Diaz LA Jr, Hartigan J, Smith DR, Strausberg RL, Kazue SNM, Shinjo SMO, Yan H, Riggins GR, Bigner DD, Karchin R, Papadopoulos N, Parmigiani G, Vogelstein B, Velculescu VE, Kinzler KW. An Integrated Genomic Analysis of Human Glioblastoma Multiforme. Science 2008:321:1807-12. PMCID: PMC2820389.

Diehl F, Schmidt K, Choti M, Goodman S, Li M, Romans K, Thornton K, Agrawal N, Szabo SA, Kinzler KW, Vogelstein B, Diaz LA Jr. Circulating Mutant DNA to Assess Tumor Dynamics. Nature Medicine 2008:14;985-90. PMCID: PMC2820391.

Rago C, Huso DL, Diehl F, Karim B, Liu G, Samuels Y, Velculescu VE, Vogelstein B, Kinzler KW, Diaz LA Jr. Serial Assessment of Human Tumor Burdens in Mice by the Analysis of Circulating DNA. Cancer Res. 2007:67:9364-70.

Peters BA., Luis A. Diaz, Kornelia Polyak, Kathy Romans, Eva C. Guinan, Joseph H. Antin, Michael Collector, Kenneth W. Kinzler, Bert Vogelstein, Christoph Lengauer. Contribution of bone-marrow derived stem cells to human tumor vasculature. Nat Med. 2005;11:261-262.

Samuels Y, Luis Diaz, Jr., Jordan Cummins, Laura DeLong, Ian Cheong, David L. Huso, Kenneth W. Kinzler, Christoph Lengauer, Bert Vogelstein, Victor E. Velculescu. Mutant PIK3CA promotes cell growth and invasion of human cancer cells. Cancer Cell 2005;7:561-573.

Ian Cheong, Xin Huang, Chetan Bettegowda, Luis A. Diaz, Jr., Kenneth W. Kinzler, Shibin Zhou, Bert Vogelstein. A C. novyi-NT Protein Enhances the Release and Efficacy of Liposomal Cancer Drugs. Science 2006; 314:1308-1311.

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Faces of Colon Cancer: A Physician's Perspective

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