Skip to Content
Discovering the causes of cancer and the means of prevention

Telomere Molecular Epidemiology

Highlights from "Telomere Biology and Cancer Risk with Sharon Savage"

Sharon Savage, M.D., and investigators in the Clinical Genetics Branch study families with dyskeratosis congenita (DC), a rare and complex inherited cancer predisposition syndrome. Patients with DC have extremely short telomeres and elevated risk for multiple cancers. As they study the effect of shortened telomeres on this unique population, the research team searches for genetic variations associated with abnormal telomeres and telomere biology. 

Read the full article on telomere biology and cancer risk.

Telomeres, specialized structures consisting of long DNA nucleotide repeats and a protein complex, are designed to protect the ends of chromosomes and are critical to chromosome stability. Each time a cell divides, the telomeres lose a small amount of DNA and become shorter. Eventually, telomeres become critically short, causing cellular senescence or cellular crisis, which result in apoptosis, genomic instability or a reduction in cellular lifespan. If cells bypass natural processes and continue to divide despite the presence of genomic instability, cancer can develop. DCEG investigators have been studying telomeres and their associations with cancer risk. Types of studies include

Dyskeratosis Congenita Study

DCEG studies of dyskeratosis congenita, an inherited bone marrow failure syndrome and cancer predisposition disorder characterized by abnormalities in telomere biology

Genetic Contribution to Telomere Biology

Studies of possible germline genetic variations in genes that code for proteins integral in telomere biology, which may be important in cancer etiology

For more information, contact Sharon Savage.

Clinical Genetics Branch - Research Areas