Background: <ul> <li>A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.</li> <li>Mutations in IBMFS genes are relevant to carcinogenesis in sporadic cancers.</li> <li>Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer.</li> <li>These cancer-prone families are well suited for cancer screening and prevention trials targeting those at increased genetic risk of cancer.</li> <li>Carriers of IBMFS gene mutations are at increased risk of cancer.</li> <li>The prototype disorder is Fanconi Anemia (FA); other IBMFS will also be studied.</li> </ul> Objectives: <ul> <li>To determine the types and incidence of specific cancers in patients with an IBMFS.</li> <li>To investigate the relevance of IBMFS gene mutations in the carcinogenesis pathway of the sporadic counterparts of IBMFS-associated cancers.</li> <li>To identify risk factors for IBMFS-related cancers in addition to the primary germline mutations.</li> <li>To determine the risk of cancer in IBMFS carriers.</li> </ul> Design: <ul> <li>Natural history study, with questionnaires, clinical evaluations, clinical and research laboratory tests, review of medical records, cancer surveillance.</li> <li>Primary endpoints are all cancers, solid tumors, and cancers specific to each type of IBMFS.</li> <li>Secondary endpoints are markers of pre-malignant conditions, such as leukoplakia, serum or tissue evidence of carcinogenic viruses, and bone marrow morphologic myelodyplastic syndrome or cytogenetic clones.</li> </ul>

Inherited Bone Marrow Failure Syndromes Study

Thinking of VACTERL‐H? Rule out Fanconi Anemia according to PHENOS

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita