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Discovering the causes of cancer and the means of prevention

Research Areas

Genetic Epidemiology Branch

The Genetic Epidemiology Branch designs and conducts interdisciplinary clinical, epidemiologic, genetic, and laboratory studies of persons, families, and populations at high risk of cancer. These investigations identify genes and exposures conferring cancer predisposition, and explore the combined effects of predisposition and specific exposures.

Family Studies

GEB investigators have been studying families with specific constellations of disorders for more than three decades. Some families have been participating since the 1960's; many have enrolled in more recent years. Studies include investigations into the etiology of melanoma, familial blood and lymph node cancers, esophagus cancer, and chordoma, a rare bone cancer.

Families who participate may come to the NIH Clinical Center for a clinical evaluation or be evaluated locally. Currently, recruitment is most active in our studies of melanoma and lymphoproliferative malignancies.

See Active Clinical Studies in GEB to find studies that are actively recruiting families.

Population Studies

GEB investigators design and conduct highly interdisciplinary studies in populations to evaluate the relevance of genetic variations in cancer etiology. This work is carried out through clinical, epidemiological, genetic and laboratory approaches, using a broad range of methodologies including case-control, cohort, family-based and molecular epidemiology designs. We also develop new methodologies to address specific design and analytic issues. Examples of selected studies are listed below.

Breast Cancer

A number of studies of breast cancer among Asian women have been conducted to investigate the complex relationship between breast cancer risk factors and clinical features (including breast cancer subtypes and outcomes) in Asian populations. Investigators are also exploring a study to be conducted in Africa with the focus on characterizing the somatic landscape of breast cancer among sub-Saharan African women and relating the somatic profile to etiologic and clinical factors.


A case-control study was conducted to evaluate the role of pigmentation and host factors in the etiology of melanoma in populations with a wide range of pigmentary phenotypes and intense sun exposure.


Investigators are conducting research studies to understand the genetic contribution to the etiology and outcomes of osteosarcoma, a primary bone cancer of adolescents and young adults.

Upper Gastrointestinal Cancers

Lung Cancer

The Environment And Genes in Lung cancer Etiology (EAGLE) Study is a large, population-based case-control study designed to investigate the genetic and environmental determinants of lung cancer and smoking persistence. EAGLE uses an integrative approach that allows combined analysis of genetic, environmental, clinical, and behavioral data.