Condition: Diamond Blackfan Anemia · Dyskeratosis Congenita · Fanconi Anemia · Sponsor: National Cancer Institute (NCI)
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-prone families are well suited for cancer screening and prevention trials targeting those at increased genetic risk of cancer. Carriers of IBMFS pathogenic variant(s) are at increased risk of cancer. The prototype disorder is Fanconi's Anemia (FA); other IBMFS will also be studied. Objectives: To determine the types and incidence of specific cancers in patients with an IBMFS. To investigate the relevance of IBMFS pathogenic variant(s) in the carcinogenesis pathway of the sporadic counterparts of IBMFS-associated cancers. To identify risk factors for IBMFS-related cancers in addition to the primary germline pathogenic variant(s). To determine the risk of cancer in IBMFS carriers. Eligibility: North American families with a proband with an IBMFS. IBMFS suspected by phenotype, confirmed by pathogenic variant(s) in an IBMFS gene, or by clinical diagnostic test. Fanconi's anemia: birth defects, marrow failure, early onset malignancy; positive chromosome breakage result. Diamond-Blackfan anemia: pure red cell aplasia; elevated red cell adenosine deaminase. Dysk…
This description comes directly from the study's public registry record.
NCI Family Study Referrals · (800) 518-8474 · ncifamilystudyreferrals@mail.nih.gov
Lisa J McReynolds, M.D. · (240) 276-5047 · mcreynoldslj@mail.nih.gov
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| National Institutes of Health Clinical Center | Bethesda, Maryland, United States | Recruiting |
| National Cancer Institute - Shady Grove | Rockville, Maryland, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT00027274