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DCEG has been studying the Hereditary Breast/Ovarian Cancer (HBOC) syndrome since the 1960s; it now comprises a genetic disease paradigm for addressing vital translational clinical cancer genetics research questions. Resources include a prospective cohort of 32 BRCA mutation-positive families with extensive clinical and epidemiologic information, as well as biological samples (NCI Protocol #02-C-0212). One hundred fifty new mutation-positive families have enrolled during the past several years.
Inherited bone marrow failure syndromes (IBMFS) are rare disorders in which there is usually some form of aplastic anemia (failure of the bone marrow to produce blood), associated with a family history of the same disorder.
Testicular cancer is the most common form of cancer in young men ages 15 to 35. It accounts for about 1 percent of all cancer in men, with approximately 7,400 cases diagnosed in the United States every year. It is much more common in white males than in black males.
This is a national 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. This study is being led by the Clinical Genetics Branch, in close collaboration with the Gynecologic Oncology Group and the Cancer Genetics Network. After discussion with their own health care providers, high-risk women will choose either risk-reducing surgery or ovarian cancer screening to manage their ovarian cancer risk. Both groups of women will be followed for five years to assess the impact of their choice on cancer occurrence and quality of life.
Women who are at high genetic risk of cancer because they have a mutation in one of the BReast CAncer susceptibility genes, BRCA1 or BRCA2, are at increased risk of developing breast cancer. Many high-risk women develop breast cancer before the age of 50. For these women, cancer risk is managed through vigilant surveillance, in hopes of identifying the disease at an early stage.
This project consists of a set of studies that range from those of highly-penetrant, disease-causing mutations, to single nucleotide polymorphisms (SNPs) as risk factors, to characterization of telomere length as a cancer risk factor and identification of novel genetic determinants of telomere length. The goals of these studies are to (1) characterize, clinically and molecularly, patients with dyskeratosis congenita, an inherited bone marrow failure and cancer predisposition syndrome characterized by abnormal telomere biology; (2) study the correlations between telomere length in different tissues from the same individuals; (3) determine the role that telomere length plays in cancer risk; (4) identify novel genetic determinants of telomere length through the use of genome-wide association study data; and (5) further characterize the population genetics of genes important in telomere biology.
Osteosarcoma (OS), the most frequent malignant primary bone tumor, occurs most commonly during the adolescent growth spurt. Osteosarcoma incidence patterns suggest an aetiologic role for perinatal risk factors, and for physiologic processes related to growth and development. We have developed an osteogenic sarcoma research portfolio that includes epidemiologic, etiologic and genetic components, in an effort to further our understanding of this rare, under-studied malignancy.
BRCA1/2 mutations predispose carriers to significantly increased lifetime risk of breast/ovarian cancers, as well as modestly increased risk of some other cancers. Researchers in the Clinical Genetics Branch are interested in the experiences of women who are aware of their positive status for either BRCA1 or BRCA2 during young adulthood. An interview study is being conducted to increase understanding of how this knowledge shapes decision-making about couple relationships, family formation, and risk-reduction strategies.
