Study of Cancer Risks and Genetic Factors in Families with Inherited Bone Marrow Failure Syndromes Including Fanconi Anemia and Other Related Disorders

What this Trial Is About

Researchers are studying Inherited Bone Marrow Failure Syndromes IBMFS, including Fanconi Anemia and others, to understand the types and rates of cancer in these disorders. The study aims to learn how genetic changes in IBMFS contribute to cancer development and to identify additional risk factors. It also investigates cancer risk in people who carry IBMFS gene variants, focusing on families with these inherited conditions. This natural history study follows a group of patients and their families with IBMFS through questionnaires, clinical exams, lab tests, medical record reviews, and cancer surveillance. It includes a variety of IBMFS disorders such as Fanconi Anemia, Diamond Blackfan Anemia, Dyskeratosis Congenita, and others. The study involves both affected individuals and their relatives, as well as patients with certain types of sporadic tumors without usual risk factors. Participants will undergo ongoing evaluations including clinical and research laboratory testing, monitoring for cancers and pre-malignant conditions, and assessments of bone marrow changes. Researchers look at cancer incidence and specific cancer types related to IBMFS, as well as biological differences between patients and healthy controls. Participation includes regular data collection and surveillance over time to better understand cancer risks and markers in these syndromes.

Cancer in Inherited Bone Marrow Failure Syndromes