Lisa Mirabello, Ph.D.

Stadtman Investigator

Clinical Genetics Branch


9609 Medical Center Drive
Room SG/6E524
Rockville, MD 20850


Research Topics


Osteosarcoma is the most common primary, malignant bone tumor among children and adolescents. Osteosarcoma etiology has remained poorly characterized, and metastatic disease has a poor prognosis. Dr. Mirabello is using epidemiologic studies to examine incidence patterns and identify risk groups for this rare cancer. She is working to identify genes and pathways that may significantly contribute to risk of osteosarcoma. She is using candidate gene and whole-genome approaches to comprehensively explore the relationship between genetic variation and susceptibility to osteosarcoma and clinical outcomes. Dr. Mirabello and her colleagues have completed the first international, multi-institution genome-wide association studies (GWAS) of osteosarcoma risk and outcome. She is conducting large genomic epidemiologic studies to broadly seek novel germline genetic markers of disease risk and outcome.

Osteosarcoma is a defining feature of several, rare hereditary cancer susceptibility syndromes, such as Diamond-Blackfan anemia (DBA). DBA patients have a high incidence of osteosarcoma. Dr. Mirabello is evaluating DBA families from the longitudinal inherited bone marrow failure syndrome (IBMFS) cohort. She is assessing DBA families that lack a mutation in any of the known DBA genes using whole-exome sequencing. She seeks to discover new rare disease-causing mutations and to further our knowledge about the genetics of DBA, which may inform our understanding of osteosarcoma etiology.

Carcinogenic HPV Genomics

Thirteen human papillomavirus (HPV) types cause virtually all cases of cervical cancer and a large proportion of other anogenital and oropharyngeal cancers. HPV is a common, sexually-transmitted infection, but only a small fraction of infected women progress to developing cervical precancer or cancer. Little is known about why only certain infections progress. There is huge variability in risk conferred by the different carcinogenic HPV types and, remarkably, strong differences even between closely related variant lineages within each type.

Dr. Mirabello is studying a large number of whole-genome sequences of carcinogenic HPV types from precancer/cancer cases and controls to understand the viral genetic basis of HPV carcinogenesis using a novel high-throughput HPV next-generation sequencing assay. HPV type 16 causes approximately half of all cervical cancers worldwide, and causes most other HPV-related cancers. A primary focus of this HPV genomics project is to evaluate why HPV 16 is so much more carcinogenic than closely related HPV types, and to evaluate HPV 16 variants related to within type risk differences. Dr. Mirabello has evaluated HPV16 whole-genome sequences from approximately 5,000 HPV 16-positive women with benign infections or cervical precancer/cancer, and has made several novel observations regarding HPV 16 epidemiology and carcinogenicity.


Dr. Lisa Mirabello earned her Ph.D. in biomedical sciences with a focus on molecular population genetics and infectious disease from the University at Albany School of Public Health, State University of New York in 2007. She joined the Clinical Genetics Branch of the NCI Division of Cancer Epidemiology and Genetics as a postdoctoral Cancer Genetics Research Fellow in 2007 and was promoted to a research fellow in 2010. In 2013, Dr. Mirabello was appointed as an Earl Stadtman Tenure-Track Investigator. She is interested in understanding the contribution of genomic and epigenomic alterations to cancer etiology. Dr. Mirabello has received a number of awards for her work in this area, including a DCEG Fellowship Achievement Award as well as a DCEG Fellowship Award for Research Excellence.

Selected Publications

  1. Mirabello L, Sun C, Ghosh A, Rodriguez AC, Schiffman M, Wentzensen N, Hildesheim A, Herrero R, Wacholder S, Lorincz A, Burk RD. Methylation of human papillomavirus type 16 genome and risk of cervical precancer in a Costa Rican population. J Natl Cancer Inst. 2012;104(7):556-65.

  2. Savage SA, Mirabello L, Wang Z, Gastier-Foster JM, Gorlick R, Khanna C, Flanagan AM, Tirabosco R, Andrulis IL, Wunder JS, Gokgoz N, Patiño-Garcia A, Sierrasesúmaga L, Lecanda F, Kurucu N, Ilhan IE, Sari N, Serra M, Hattinger C, Picci P, Spector LG, Barkauskas DA, Marina N, de Toledo SR, Petrilli AS, Amary MF, Halai D, Thomas DM, Douglass C, Meltzer PS, Jacobs K, Chung CC, Berndt SI, Purdue MP, Caporaso NE, Tucker M, Rothman N, Landi MT, Silverman DT, Kraft P, Hunter DJ, Malats N, Kogevinas M, Wacholder S, Troisi R, Helman L, Fraumeni JF Jr, Yeager M, Hoover RN, Chanock SJ. Genome-wide association study identifies two susceptibility loci for osteosarcoma. Nat Genet. 2013;45(7):799-803.

  3. Mirabello L, Koster R, Moriarity BS, Spector LG, Meltzer PS, Gary J, Machiela MJ, Pankratz N, Panagiotou OA, Largaespada D, Wang Z, Gastier-Foster JM, Gorlick R, Khanna C, de Toledo SR, Petrilli AS, Patiño-Garcia A, Sierrasesúmaga L, Lecanda F, Andrulis IL, Wunder JS, Gokgoz N, Serra M, Hattinger C, Picci P, Scotlandi K, Flanagan AM, Tirabosco R, Amary MF, Halai D, Ballinger ML, Thomas DM, Davis S, Barkauskas DA, Marina N, Helman L, Otto GM, Becklin KL, Wolf NK, Weg MT, Tucker M, Wacholder S, Fraumeni JF Jr, Caporaso NE, Boland JF, Hicks BD, Vogt A, Burdett L, Yeager M, Hoover RN, Chanock SJ, Savage SA. A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma. Cancer Discov. 2015;5(9):920-31.

This page was last updated on February 12th, 2018