Skip to main content
Discovering the causes of cancer and the means of prevention

Clinical Genetics Branch Research Areas

Clinical Genetics Branch investigators conduct clinical, genetic, and epidemiologic studies of individuals at high risk of cancer in order to improve our understanding of cancer etiology and to advance clinical care.

Clinical Genetics Studies

CGB investigators conduct etiologic studies of individuals and families at increased risk of cancer to discover new cancer susceptibility or risk-modifying genes, to understand better the molecular pathogenesis of specific disorders, and to investigate possible genotype/phenotype relationships that will improve clinical management and aid in genetic counseling.

Familial Testicular Cancer Study
DCEG investigators are conducting the Familiar Testicular Cancer Study to research the genetic causes of testicular cancer.

Inherited Bone Marrow Failure Syndromes
The inherited bone marrow failure syndromes (IBMFS) are a group of rare genetic blood disorders. DCEG investigators are leading a clinical study to better understand how cancers develop in persons with IBMFS.

Li-Fraumeni Syndrome Study 
Li-Fraumeni Syndrome (LFS) is a rare, inherited disorder which leads to a higher risk of certain cancers. NCI has evaluated families with LFS since the syndrome was first recognized in 1969. DCEG is now expanding this research through a clinical study and participation in a multi-institutional collaboration.

Myotonic Dystrophy and Cancer Susceptibility
Studies of Myotonic Dystrophy (DM) and possible correlation with cancer susceptibility

Neurofibromatosis Type 1
Studies on Neurofibromatosis Type 1 and associations with cancer susceptibility

Osteosarcoma Studies
Studies of osteosarcoma, a primary bone cancer of adolescents and young adults

Pleuropulmonary Blastoma DICER1 Syndrome Study 
Pleuropulmonary blastoma (PPB) is a rare tumor of the lung. Research has shown that PPB may be part of an inherited cancer predisposition syndrome caused by changes in a gene known as DICER1. The PPB Cancer Study is an observational study of children with PPB and their families.

Waldenström's Macroglobulinemia Study
Waldenström's macroglobulinemia (WM) is a rare type of tumor that belongs to a group of disorders called lymphoproliferative diseases. DCEG researchers are leading a study to determine what causes WM to sometimes develop in two or more family members.

Behavioral, Counseling & Psychosocial Implications of Increased Cancer Risk
Studies of behavioral, counseling and psychosocial implications related to being at increased genetic risk of developing cancer.

Telomere Molecular Epidemiology
Studies of nucleoprotein structures designed to protect the ends of chromosomes and are critical to chromosome stability. Research covers characterization of telomere length as a cancer risk factor and identification of genetic determinants of telomere length.

Clinical Epidemiology Studies

CGB investigators study the molecular etiology and prevention of human papillomavirus (HPV) related cancers and ovarian and endometrial cancers in order to identify at-risk individuals in the general population. We seek to translate our research findings into improved clinical practice and management.

Human Papillomavirus (HPV) Natural History, Genomics, and Risk Assessment
Investigators have performed a series of studies of HPV natural history, genomics and risk assessment that have led to advances in screening and clinical management.

Ovarian and Endometrial Cancer Studies
CGB investigators are studying the etiologic heterogeneity of ovarian cancers and the roles that inflammation and endogenous hormones play in carcinogenesis. They have also been testing novel sampling strategies for collecting endometrial samples.

Ovarian Cancer Consortium
Ovarian cancer's rarity and substantial heterogeneity make the need for consortial studies very important. CGB investigators and their extramural colleagues have initiated the Ovarian Cancer Consortium (OC3) to conduct epidemiologic, genetic, and biomarker studies of ovarian cancer.

Biomarker Evaluation and Absolute Risk Prediction

CGB investigators, in collaboration with investigators from the Biostatistics Branch (BB), are developing methodologies and tools to be used for biomarker discovery and evaluation, as well as risk stratification analysis.