Etiological Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study

Study ID Alternative Stable ID Type
phs001481 Prospective

Study Description


  • 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.


  • 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 cancers in addition to the ... (Show More)

Archive Link Archive Accession
dbGaP phs001481

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