phs001481
Inherited Bone Marrow Failure Syndromes
Background:   A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.  Mutations 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 gene mutations are at increased risk of cancer.  The prototype disorder is Fanconi 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 gene mutations in the carcinogenesis pathway of the sporadic counterparts of IBMFS-associated cancers.  To identify risk factors for IBMFS-related... (for more see dbGaP study page.)