Cancer is a complex disease driven by numerous factors: environment, lifestyle, and genetic make-up. In some cases, genetic variation shared within families is related to risk for disease. For over three decades, NCI scientists have studied families in which multiple individuals have developed specific cancers. This research, now aided by new genomic technologies, has led to the discovery of genes and environmental exposures that affect cancer risk in families and the general population.
To see a list of family studies that are actively recruiting participants, visit the Active Clinical Studies page. To enroll or inquire about our active clinical studies, please email the referral nurse, Stephanie Steinbart, or contact by phone: 1-800-518-8474.
Pleuropulmonary Blastoma Cancer Predisposition Syndrome (actively recruiting)
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.
Familial Melanoma Studies (actively recruiting)
DCEG researchers are searching for melanoma susceptibility genes in melanoma-prone families.
Li-Fraumeni Syndrome Study (actively recruiting)
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.
Familial Blood and Lymph Node Cancers Study (actively recruiting)
DCEG investigators have been studying the causes of familial blood and lymph node cancers for over 30 years. Ongoing advances in genetics, anticipated applications of advanced technologies, and data from families have allowed research efforts to expand.
Inherited Bone Marrow Failure Syndromes (actively recruiting)
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.
Waldenström's Macroglobulinemia Study (actively recruiting)
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.
Familial Testicular Cancer Study (actively recruiting)
DCEG investigators are conducting the Familiar Testicular Cancer Study to research the genetic causes of testicular cancer.
Familial Chronic Lymphocytic Leukemia Study (actively recruiting)
DCEG investigators are studying families with multiple cases of chronic lymphocytic leukemia (CLL), the most common leukemia in adults in the Western Hemisphere.
Multidisciplinary Etiologic Studies of Hereditary Breast/Ovarian Cancer
DCEG researchers have been studying the Hereditary Breast/Ovarian Cancer (HBOC) syndrome since the 1960s. This study is now closed to patient enrollment, and researchers are analyzing previously collected data.
Chordoma Study (actively recruiting)
Chordoma is a rare bone cancer that develops at the base of the skull, in a vertebra, or at end of the spine. DCEG investigators are studying families with multiple relatives with chordoma.
National Ovarian Cancer Prevention and Early Detection Study
The National Ovarian Cancer and Early Detection Study (GOG-0199) is a prospective study of women who are at increased risk of ovarian cancer, either because they or a close relative have a mutation in the BRCA1 or BRCA2 genes, or because they have a strong family history of breast and/or ovarian cancer. The clinical phase of this study is complete, and efforts are focused on data analysis.
Read more about the public health impact of family studies.