Clinical Trial: Cancer in Inherited Bone Marrow Failure Syndromes
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study
Brief Summary:
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'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 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 primary germline mutations.
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 mutation in an IBMFS gene, or by clinical diagnostic test.
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'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 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 primary germline mutations.
To determine the risk of cancer in IBMFS carriers.
Eligibility:
North American families (or other eligible families) with a proband with an IBMFS.
IBMFS suspected by phenotype, confirmed by mutation in an IBMFS gene, or by clinical diagnostic
Sponsor: National Cancer Institute (NCI)
Current Primary Outcome:
- Establish a cohort of families with IBMFS [ Time Frame: Ongoing ]
- Compare biology of IBMFS patients with general populations [ Time Frame: Ongoing ]
- Identify differences between patients with IBMFS who develop cancer and those who don't [ Time Frame: Ongoing ]
- Determine risk of cancer in IBMFS patients with specific gene mutations [ Time Frame: Ongoing ]
Original Primary Outcome:
Current Secondary Outcome:
Original Secondary Outcome:
Information By: National Institutes of Health Clinical Center (CC)
Dates:
Date Received: November 29, 2001
Date Started: November 28, 2001
Date Completion:
Last Updated: April 21, 2017
Last Verified: April 6, 2017
