Specific CGB Studies

• Multidisciplinary Clinical Etiologic Studies of Hereditary Breast/Ovarian Cancer
  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. This study is now closed to new patient enrollment. Patient- related clinical activities have ended. Our focus will be on analyzing previously-collected date.
• Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes (IBMFS)
  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
• Familial Testicular Cancer Study
  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. Our current research is focused on evaluating the role of testicular microlithiasis in familial testicular cancer and pursuing genetic research using previously-collected biological samples.
• Ovarian Cancer Prevention and Early Detection Study
  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. Active follow-up of women who enrolled in this study ends in November 2011, although eligible members of the current study are being invited to join an extension of the original study. Known as GOG-8199, it only requires filling out a short questionnaire once a year, after signing a new consent form.
• Breast Imaging Study
  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 study has completed accrual and follow-up, and is now in the data analysis stage.
• Telomere Biology and the Risk of Cancer
  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.
• Genetic Modifiers of Osteogenic Sarcoma
  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.
• Recruiting Young Female BRCA1/2 Carriers to participate in Confidential Interview Study
  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.
• Li-Fraumeni Syndrome Study
  Li-Fraumeni Syndrome (LFS) is a rare, inherited disorder which leads to a higher risk of certain cancers, including sarcomas, brain tumors, breast cancer, and many others. It is inherited in an autosomal dominant manner and is often the result of heritable changes in the TP53 gene. The NCI has evaluated families with LFS since the syndrome was first recognized in 1969. The Clinical Genetics Branch is now expanding this research through a clinical study and participation in a multi-institutional collaboration. This study is now open to patient enrollment.
• DICER1- related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History 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 that is due to mutations of a gene referred to as DICER1. The DICER1 syndrome is characterized by rare benign and malignant tumors such as pleuropulmonary blastoma, cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumor, ocular medulloepithelioma, and multinodular goiter. Our study aims at further defining the phenotype of this syndrome, at evaluating the cancer risk and at better understanding the biology of this newly described syndrome.