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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.
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.
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 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.
