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Cancer Genetics and Comparative Genomics Branch

The Cancer Genetics and Comparative Genomics Branch seeks to identify and study genes that contribute to cancer susceptibility and progression.


The branch focuses on inherited and somatic (body cell) mutations that contribute to cancer susceptibility syndromes and to the development of various aggressive cancers, including prostate, endometrial, bladder, lung, head and neck, and gastric cancers. They also study the relationship between genetic variation and cancer progression and pursue the discovery of both inherited and somatic variants that lead, specifically, to fast-growing and aggressive tumors.

Formation or production of tumors-tumorigenesis-can result from genomic alterations that are inherited or alterations that are acquired and accumulate over time. Some of these genomic changes drive tumor initiation, growth and metastases, while others are simply passenger events. Branch investigators use state-of-the-art sequencing methodologies to uncover genomic alterations that drive tumorigenesis. They search for causal sequence variants in DNA from inherited cells of at-risk individuals, in human tumor genomes and in the genomes of model organisms such as the dog, which is genetically susceptible to many of the same forms of cancer as humans. Branch investigators develop and implement new technologies and bioinformatics tools for genome analysis that are integral to this discovery pipeline. In aggregate, their studies have the potential to contribute to improved patient treatment, survival and well-being.

Our Mission

The primary focus of CGCGB investigators is to identify the genetic contribution to the processes of cancer susceptibility, tumor initiation and progression, treatment response, and develop tools for evaluating both human and animal genomes.

Specifically, the program:

  • Focuses on finding genetic relationships between regions of the human genome and cancer development, progression, response to treatment, and outcomes.
  • Conducts research on multiple types of cancer, including (but not limited to) cancers of the prostate, endometrium, lung, bladder, and breast; melanoma, and Fanconi anemia. These research efforts are conducted both independently and through collaborative agreements with universities, academic medical centers, and clinics.
  • Develops and maintains banks of normal and tumor tissue (consisting of both germline and tumor DNA) for a variety of types of cancer.
  • Identifies somatic genomic alterations that drive sporadic tumors using whole-exome and whole-genome sequencing approaches, expression profiling methodologies (such as RNA-seq), and copy number analysis.
  • Develops and applies statistical tools for evaluating whole genome, whole exome, and comparative genome data. These tools are applied to  studies of cancer as well as other diseases.
  • Asks questions and develops tools to better understand the evolutionary relationship between genomes.
  • Uses family-based studies and animal models to identify susceptibility loci, particularly for aggressive forms of common cancers. This involves using both linkage and genome-wide association studies of families and case-control studies. In addition we perform whole exome and genome sequencing of both germline DNA and tumors. Where applicable, we conduct pathway analysis of targeted genes.
  • Applies genomic technologies for molecular diagnosis of rare diseases with profound cancer susceptibility, such as Fanconi anemia.
  • Conducts individual and consortium-based collaborations with epidemiologists using genome-wide association studies to provide support for quality-of-life studies. We also work with both population scientists and clinicians to define gene profiles that offer predictability in terms of cancer susceptibility, metastasis, and outcomes.
  • Supports the development of genomic techniques specific for development of model organisms and the use of mouse and other small animal models for cancer-related genetic and functional studies.
  • Supports national collaborative efforts to expedite the search for cancer genes.
  • Trains clinicians, postdoctoral fellows, research associates, graduate students, and postbaccalaureate undergraduate trainees in the techniques and scientific processes related to the branch mission. The branch is committed to training and providing opportunities to scientists from traditionally under represented groups.
  • Provides public education seminars and Continuing Medical Education lectures to support groups, clinicians, university departments, and other groups interested in the research being conducted by Branch Investigators.
  • Supports a multi-Institute microarray core that performs association and expression studies.

In summary, the scientists of the Cancer Genetics and Comparative Genomics Branch work in a highly collaborative and multi-disciplinary setting to answer questions regarding the causes, growth patterns, and treatment responses associated with cancer. We are interested in defining and understanding the functional role of proteins involved in all phases of tumor development and growth for a variety of tumor types. Our long-term goal is to see our findings translated to advances in diagnosis and treatment. Finally, we utilize state of the art approaches in all phases of our work and we seek to develop and contribute advances in genomic technology to all fields of human health and biology.

Branch Staff

Elaine Ostrander
Elaine A. Ostrander, Ph.D.
  • Chief & NIH Distinguished Investigator
  • Cancer Genetics and Comparative Genomics Branch
Daphne Bell
Daphne W. Bell, Ph.D.
  • Senior Investigator
  • Cancer Genetics and Comparative Genomics Branch
Jim Mullikin
Jim Mullikin, Ph.D.
  • Senior Scientist
  • Cancer Genetics and Comparative Genomics Branch
Heidi Parker
Heidi Parker, Ph.D.
  • Associate Investigator
  • Cancer Genetics and Comparative Genomics Branch
Settara Chandrasekharappa, Ph.D
Settara Chandrasekharappa, Ph.D.
  • Associate Investigator
  • Cancer Genetics and Comparative Genomics Branch
Abdel Elkahloun
Abdel G. Elkahloun, Ph.D.
  • Associate Investigator
  • Cancer Genetics and Comparative Genomics Branch
Paul Meltzer, M.D., Ph.D.
Paul Meltzer, M.D., Ph.D.
  • Adjunct Investigator
  • Cancer Genetics and Comparative Genomics Branch

Last updated: January 24, 2023