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Discovering the causes of cancer and the means of prevention

Lisa Mirabello, Ph.D., M.S.

Earl Stadtman Investigator

Lisa Mirabello, Ph.D., M.S.

Lisa Mirabello, Ph.D., M.S.

Organization:National Cancer Institute
Division of Cancer Epidemiology and Genetics, Genetic Epidemiology Branch
Address:NCI Shady Grove
Room 6E422


Dr. Lisa Mirabello earned her Ph.D. in biomedical sciences with a focus on molecular population genetics 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 in GEB. 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.

Research Interests


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 recently completed the first international, multi-institution genome-wide association study (GWAS) of osteosarcoma.  

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.

Telomere Length as a Cancer Risk Factor

Telomeres are specialized structures at the end of chromosomes that are essential for chromosome stability. Short telomere length has been linked to risk of several cancers and clinical outcomes. Dr. Mirabello is exploring the association between telomere length and cancer. Through her research thus far, she has found that longer telomere length is associated with a healthier lifestyle and short telomere length is associated with ovarian cancer. Dr. Mirabello is evaluating if short telomere length is a marker of increased ovarian cancer risk. She is determining if shortened telomeres are present prior to ovarian cancer diagnosis, and evaluating whether telomere length is associated with patient survival and/or known ovarian cancer risk factors.  

HPV Genome Methylation as a Biomarker for Cervical Precancer

Human papillomavirus type 16 (HPV16) is the most prevalent and carcinogenic HPV type. HPV16 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, and effective markers are needed to distinguish the common benign infections from the rare malignant infections. Dr. Mirabello is studying methylation of the HPV genome and infection outcome. She has conducted large epidemiologic studies that found a strong association between HPV16 genome methylation and disease progression. Her research suggests that high HPV16 DNA methylation might be a novel biomarker of cervical precancer that can distinguish HPV-positive women that will progress to disease from the HPV-positive women with benign infections that will clear. Dr. Mirabello is working to expand this research to larger cohorts, and to non-cervical sites.

Information for Journalists

To request an interview with a DCEG investigator, contact the NCI Office of Media Relations:


Phone: 301-496-6641

Spotlight on Investigator

Read Lisa Mirabello's profile in the Spring 2014 Linkage newsletter.