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Discovering the causes of cancer and the means of prevention

Integrative Tumor Epidemiology Branch Research Areas

Research conducted by ITEB investigators involves:

  • Designing, conducting and analyzing molecular epidemiology studies with tissue collections;
  • Characterizing tumors using morphology, histopathology and immunohistochemistry/in situ hybridization staining and scoring of tissue slides from formalin-fixed paraffin embedded (FFPE) or fresh frozen (FF) material;
  • Molecular profiling of tumors, including genomic analyses conducted at the DCEG Cancer Genomics Research (CGR) Laboratory and external laboratories;
  • Designing and utilizing large-scale analytic tools for integrated data analytics of high dimensional, complex data;
  • Using publically available data from resources such as the The Cancer Genome Atlas (TCGA), ENCODE and Genotype-Tissue Expression (GTEx) projects, and the International cancer genome consortium (ICGC);
  • Participating and contributing to large national and international consortia.

Learn more about tissue-based studies in ITEB and other branches in DCEG

Major research areas

Breast Cancer

The goal is to study molecular mechanisms underlying breast carcinogenesis and etiologic heterogeneity of breast cancers through integrative molecular epidemiology studies, including morphologic and molecular characterization of normal and tumor breast tissues. Research areas include molecular epidemiology of mammographic density, one of the strongest risk factors for breast cancer; morphologic features of terminal duct lobular units (TDLUs) in non-malignant breast tissue in relation to breast cancer risk; GWAS of breast cancer subtypes; somatic profiling of tumors in relation to germline and environmental exposures in different populations (European, Asian and African ancestry); and study of the interrelation of genetic and environmental risk factors, tumor features and clinical progression using targeted DNA sequencing and immunohistochemistry and in-situ hybridization analysis of thousands of breast tumors in the international consortium Breast CAncer STratification (BCAST) Project.

Learn more about breast cancer studies in ITEB.

An initiative called the Confluence Project will develop a large research resource to uncover breast cancer genetics through genome-wide association studies. Learn more about the Confluence Project. If interested in participating, complete the inventory.


Chordoma is a rare bone cancer (diagnosed in about 300 patients in the U.S. each year) that develops at the base of the skull, in a vertebra, or at end of the spine. It is believed to develop from remnants of the notochord. While the majority of people with chordoma have no other family members with this cancer, a small number of families with multiple relatives with chordoma have been reported worldwide, suggesting that genetic factors may cause susceptibility of chordoma in these families.

DCEG investigators have been studying chordoma families with the goal of finding the mutated or altered genes that cause familial chordoma, and whether chordoma-prone families are at increased risk of other cancers. They are also trying to determine whether the genes altered in chordoma families play a role in the development of chordoma in people in the general population without family history of this cancer (sporadic chordoma). Investigators have identified germline duplication of the T gene as a major susceptibility mechanism in some chordoma families, and through subsequent analyses have identified multiple common and rare T variants associated with chordoma risk. Studies to identify additional susceptibility genes in chordoma families are ongoing.

Kidney Cancer

Intra-tumor heterogeneity and tumor evolution are being studied in kidney cancer histological subtypes based on whole-genome sequencing, deep target sequencing, whole genome methylation and SNP array analyses.

Lung Cancer

The goal is to study the genetic and environmental determinants of lung cancer using an integrative approach that allows the investigation of the process that begins with smoking initiation and persistence, continues with lung cancer development, and ends with progression to disseminated disease or response to therapy and survival. Investigators are using data from a large population-based case control study in the Lombardy region of Italy, called the Environment And Genetics in Lung cancer Etiology (EAGLE) study.

Studies include exogenous and host factors in relation to lung cancer risk and determinants of lung cancer progression through integrative analyses of tissue profiling data. Tumor evolution and intra-tumor heterogeneity of different histologic subtypes of lung cancer are being investigated through whole genome sequencing; deep target sequencing of the major driver genes; SNP array; and whole-genome methylation analysis of multiple regions of the same tumor. The impact of lung microbiota and tumor microenvironment on tumor evolution and clinical outcomes is being studied through 16S RNA gene, immunohistochemistry and RNA sequencing analyses.


Converging lines of evidence suggest that melanoma comprises biologically distinct subtypes. DCEG investigators are undertaking tissue-based and genomic studies to provide a comprehensive classification of primary melanomas and the molecular changes associated with metastatic potential

Additional studies are underway of specific populations, including a study of melanoma in Italy to determine the role of pigmentation and other host factors, and a consortial approach to studying a wider segment of Mediterranean populations through the MelaNostrum Consortium.