Main navigation

Mark Sausen

Class 2009
Education BA, University of Delaware

Dr. Victor Velculescu

Current Position Vice President of Research and Development

Personal Genome Diagnostics

Research Interests

With the advent of next-generation DNA sequencing technologies, it is now possible to sequence the human genome quickly and efficiently, specifically, for those patients with cancer.
This allows for the discovery and identification of oncogenes and tumor suppressor genes in different tumor types to facilitate a better understanding of disease pathogenesis. Furthermore, this technology is conducive for genome wide analyses of structural variation, such as somatic rearrangements. Using high throughput approaches to identify genomic rearrangements in the tumor, we are able to develop personalized biomarkers that can potentially be used for therapeutic monitoring with a PCR-based blood test. Future work will involve the optimization and development of this technique, PARE (personalized analysis of rearranged ends), as well its application to different tumor types.


The genomic landscape of response to EGFR blockade in colorectal cancer. Bertotti A, Papp E, Jones S, Adleff V, Anagnostou V, Lupo B, Sausen M, Phallen J, Hruban CA, Tokheim C, Niknafs N, Nesselbush M, Lytle K, Sassi F, Cottino F, Migliardi G, Zanella ER, Ribero D, Russolillo N, Mellano A, Muratore A, Paraluppi G, Salizzoni M, Marsoni S, Kragh M, Lantto J, Cassingena A, Li QK, Karchin R, Scharpf R, Sartore-Bianchi A, Siena S, Diaz LA Jr, Trusolino L, Velculescu VE. Nature. 2015 Oct 8;526(7572):263-7. doi: 10.1038/nature14969. Epub 2015 Sep 30.PMID:26416732

Clinical implications of genomic alterations in the tumour and circulation of pancreatic cancer patients. Sausen M, Phallen J, Adleff V, Jones S, Leary RJ, Barrett MT, Anagnostou V, Parpart-Li S, Murphy D, Kay Li Q, Hruban CA, Scharpf R, White JR, O’Dwyer PJ, Allen PJ, Eshleman JR, Thompson CB, Klimstra DS, Linehan DC, Maitra A, Hruban RH, Diaz LA Jr, Von Hoff DD, Johansen JS, Drebin JA, Velculescu VE. Nat Commun. 2015 Jul 7;6:7686. PMID:26154128

Detection of somatic mutations and HPV in the saliva and plasma of patients with head and neck squamous cell carcinomas. Wang Y, Springer S, Mulvey CL, Silliman N, Schaefer J, Sausen M, James N, Rettig EM, Guo T, Pickering CR, Bishop JA, Chung CH, Califano JA, Eisele DW, Fakhry C, Gourin CG, Ha PK, Kang H, Kiess A, Koch WM, Myers JN, Quon H, Richmon JD, Sidransky D, Tufano RP, Westra WH, Bettegowda C, Diaz LA Jr, Papadopoulos N, Kinzler KW, Vogelstein B, Agrawal N. Sci Transl Med. 2015 Jun 24;7(293):293ra104 PMID:26109104

Personalized genomic analyses for cancer mutation discovery and interpretation. Jones S, Anagnostou V, Lytle K, Parpart-Li S, Nesselbush M, Riley DR, Shukla M, Chesnick B, Kadan M, Papp E, Galens KG, Murphy D, Zhang T, Kann L, Sausen M, Angiuoli SV, Diaz LA Jr, Velculescu VE. Sci Transl Med. 2015 Apr 15;7(283):283ra53 PMID:25877891

Circulating tumor DNA analysis as a real-time method for monitoring tumor burden in melanoma patients undergoing treatment with immune checkpoint blockade. Lipson EJ, Velculescu VE, Pritchard TS, Sausen M, Pardoll DM, Topalian SL, Diaz LA Jr. J Immunother Cancer. 2014 Dec 16;2(1):42. doi: 10.1186/s40425-014-0042-0. eCollection 2014. PMID:25516806

Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors. Zhang M, Wang Y, Jones S, Sausen M, McMahon K, Sharma R, Wang Q, Belzberg AJ, Chaichana K, Gallia GL, Gokaslan ZL, Riggins GJ, Wolinksy JP, Wood LD, Montgomery EA, Hruban RH, Kinzler KW, Papadopoulos N, Vogelstein B, Bettegowda C. Nat Genet. 2014 Nov;46(11):1170-2. doi: 10.1038/ng.3116. Epub 2014 Oct 12. PMID:25305755

Genomic analyses of gynaecologic carcinosarcomas reveal frequent mutations in chromatin remodelling genes. Jones S, Stransky N, McCord CL, Cerami E, Lagowski J, Kelly D, Angiuoli SV, Sausen M, Kann L, Shukla M, Makar R, Wood LD, Diaz LA Jr, Lengauer C, Velculescu VE. Nat Commun. 2014 Sep 19;5:5006.  PMID:25233892

Circulating tumor DNA moves further into the spotlight. Sausen M, Parpart S, Diaz LA Jr. Genome Med. 2014 May 28;6(5):35. doi: 10.1186/gm552. eCollection 2014. PMID:24944584

Detection of circulating tumor DNA in early- and late-stage human malignancies. Bettegowda C, Sausen M, Leary RJ, Kinde I, Wang Y, Agrawal N, Bartlett BR, Wang H, Luber B, Alani RM, Antonarakis ES, Azad NS, Bardelli A, Brem H, Cameron JL, Lee CC, Fecher LA, Gallia GL, Gibbs P, Le D, Giuntoli RL, Goggins M, Hogarty MD, Holdhoff M, Hong SM, Jiao Y, Juhl HH, Kim JJ, Siravegna G, Laheru DA, Lauricella C, Lim M, Lipson EJ, Marie SK, Netto GJ, Oliner KS, Olivi A, Olsson L, Riggins GJ, Sartore-Bianchi A, Schmidt K, Shih lM, Oba-Shinjo SM, Siena S, Theodorescu D, Tie J, Harkins TT, Veronese S, Wang TL, Weingart JD, Wolfgang CL, Wood LD, Xing D, Hruban RH, Wu J, Allen PJ, Schmidt CM, Choti MA, Velculescu VE, Kinzler KW, Vogelstein B, Papadopoulos N, Diaz LA Jr. Sci Transl Med. 2014 Feb 19;6(224):224ra24. doi: 10.1126/scitranslmed.3007094. PMID:24553385

Insights into therapeutic resistance from whole-genome analyses of circulating tumor DNA. Diaz LA Jr, Sausen M, Fisher GA, Velculescu VE. Oncotarget. 2013 Oct;4(10):1856-7. No abstract available. PMID:24196513

Cancer detection using whole-genome sequencing of cell free DNA. Leary RJ, Sausen M, Diaz LA Jr, Velculescu VE. Oncotarget. 2013 Aug;4(8):1119-20. No abstract available. PMID:23912395

Amplification of the MET receptor drives resistance to anti-EGFR therapies in colorectal cancer. Bardelli A, Corso S, Bertotti A, Hobor S, Valtorta E, Siravegna G, Sartore-Bianchi A, Scala E, Cassingena A, Zecchin D, Apicella M, Migliardi G, Galimi F, Lauricella C, Zanon C, Perera T, Veronese S, Corti G, Amatu A, Gambacorta M, Diaz LA Jr, Sausen M, Velculescu VE, Comoglio P, Trusolino L, Di Nicolantonio F, Giordano S, Siena S. Cancer Discov. 2013 Jun;3(6):658-73. doi: 10.1158/2159-8290.CD-12-0558. Epub 2013 Jun 2. PMID:23729478

Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS. Agrawal N, Jiao Y, Sausen M, Leary R, Bettegowda C, Roberts NJ, Bhan S, Ho AS, Khan Z, Bishop J, Westra WH, Wood LD, Hruban RH, Tufano RP, Robinson B, Dralle H, Toledo SP, Toledo RA, Morris LG, Ghossein RA, Fagin JA, Chan TA, Velculescu VE, Vogelstein B, Kinzler KW, Papadopoulos N, Nelkin BD, Ball DW. J Clin Endocrinol Metab. 2013 Feb;98(2):E364-9. doi: 10.1210/jc.2012-2703. Epub 2012 Dec 21. PMID:23264394

Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. 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. Nat Genet. 2013 Jan;45(1):12-7. doi: 10.1038/ng.2493. Epub 2012 Dec 2. PMID:23202128

Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing. Leary RJ, Sausen M, Kinde I, Papadopoulos N, Carpten JD, Craig D, O’Shaughnessy J, Kinzler KW, Parmigiani G, Vogelstein B, Diaz LA Jr, Velculescu VE. Sci Transl Med. 2012 Nov 28;4(162):162ra154. doi: 10.1126/scitranslmed.3004742. PMID:23197571