Development and Application of a Pan-Cancer Diagnostic Test for Early Detection of Cancer

Momentum Fellow (2020-2021)

Dimitrios Mathios, MD, Johns Hopkins University School of Medicine

Dimitrios Mathios, MD

Dr. Mathios is developing and validating a liquid biopsy approach that detects early genetic and epigenetic features of cancer and could reduce unnecessary high-risk invasive procedures.


Mathios D, Johansen JS, Cristiano S, Medina JE, Phallen J, Larsen KR, Bruhm DC, Niknafs N, Ferreira L, Adleff V, Chiao JY, Leal A, Noe M, White JR, Arun AS, Hruban C, Annapragada AV, Jensen SØ, Ørntoft MW, Madsen AH, Carvalho B, de Wit M, Carey J, Dracopoli NC, Maddala T, Fang KC, Hartman AR, Forde PM , Anagnostou V, Brahmer JR, Fijneman RJA, Nielsen HJ, Meijer GA, Andersen CL, Mellemgaard A, Bojesen SE, Scharpf RB, Velculescu VE. Detection and Characterization of Lung Cancer Using Cell-Free DNA Fragmentomes. Nat Commun. 2021.

Foda ZH, Annapragada AV, Boyapati K, Bruhm DC, Vulpescu NA, Medina JE, Mathios D, Cristiano S, Niknafs N, Luu HT, Goggins MG, Anders RA, Sun J, Mehta SH, Thomas DL, Kirk GD, Adleff V, Phallen J, Scharpf RB, Kim AK, Velculescu VE. Detecting liver cancer using cell-free DNA fragmentomes. Cancer Discov. 2022.

Bruhm DC, Mathios D, Foda ZH, Annapragada AV, Medina JE, Adleff V, Chiao EJ, Ferreira L, Cristiano S, White JR, Mazzilli SA, Billatos E, Spira A, Zaidi AH, Mueller J, Kim AK, Anagnostou V, Phallen J, Scharpf RB, Velculescu VE. Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer. Nat Genet. 2023.

Annapragada AV, Niknafs N, White JR, Bruhm DC, Cherry C, Medina JE, Adleff V, Hruban C, Mathios D, Foda ZH, Phallen J, Scharpf RB, Velculescu VE. Genome-wide repeat landscapes in cancer and cell-free DNA. Sci Transl Med. 2024.