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Etiologic Investigation of Cancer Susceptibility in
Inherited Bone Marrow Failure Syndromes (IBMFS)
Inherited
bone marrow failure syndromes
(IBMFS) are rare disorders in which there is usually some form of
aplastic anemia (failure of the bone marrow to produce blood), associated
with a family history of the same disorder. Some of these conditions
have typical changes in physical appearance or in laboratory findings
which suggest a specific diagnosis. There are several well-described
syndromes,
which can be recognized by health care experts. There are also patients
who are harder to classify, but who appear to belong in this category.
Patients with these syndromes have a very high risk of development of
cancer (either
leukemia
or certain solid tumors). At the moment we cannot predict which
specific patient with an IBMFS is going to develop cancer. The NCI
IBMFS
Cohort
Study will enroll North American families in which at least one
member has or had an IBMFS. We plan to:
- include individuals known to have an IBMFS as well as their
first degree relatives (brothers, sisters, parents, and children);
- collect clinical information from study participants and their
physicians;
- perform detailed physical examinations, x-rays and routine laboratory
tests on those who are interested in traveling to the NIH to be
seen in person by our team;
- attempt (on a research basis) identification of the specific
genetic
mutation
that is associated with each family's disease;
- screen participants for early changes related to the specific cancers that
occur in each syndrome;
- perform detailed research laboratory studies on blood and tumors
collected from study participants, in an effort to understand
the process by which cancers develop;
- monitor study participants in an ongoing fashion to determine
the rate at which complications develop related to each disease,
and to identify those complications more precisely;
- provide suggestions to study participants and their physicians
regarding how to best take care of family members who are affected
with a particular IBMFS; and
- offer
genetic counseling, and an opportunity to learn the results of mutation
testing, for those persons who decide that this information will
be of use to them.
To enroll or inquire about this study, please call 1-800-518-8474.
Summer 2008 Newsletter (PDF - 6.0 MB)
The Principal Investigator responsible for this study is Blanche
P. Alter, MD, MPH. For further information regarding her credentials
and experience, please see: http://dceg.cancer.gov/about/staff-bios/alter-blanche.
Our overall goal is to reach a better understanding of how cancers
develop in persons with IBMFS, so that we may improve the health
care which can be offered to persons with these disorders.
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