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(AAU-0112) Entrance into the International Fanconi Anemia Registry (IFAR)

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Entrance into the International Fanconi Anemia Registry (IFAR) (AAU-0112)

Principal Investigator:
Agata Smogorzewska M.D., Ph.D.

Arleen D. Auerbach Ph.D.

Contact Information:
Agata Smogorzewska, M.D., Ph.D.
The Rockefeller University
1230 York Avenue
New York, NY 10065
Telephone: 212-327-7850
Enrollment Status:
Open to Enrollment

Brief Summary of Protocol:
We want to obtain clinical and genetic information on patients with this heterogeneous disorder, in order to learn how to optimize clinical care of affected children, and to increase our understanding of this rare syndrome.

Detailed Description of Protocol:
The most common genetic form of aplastic anemia is Fanconi anemia (FA), an autosomal recessive disorder characterized by a progressive pancytopenia, diverse congenital abnormalities and a predisposition to malignancy. Diagnosis is made by study of DEB-induced chromosomal breakage, a test developed by Dr. Arleen Auerbach. FA occurs in all racial and ethnic groups although the carrier frequency varies among ethnic groups and is particularly high in the Ashkenazi Jewish population, who are estimated to have a carrier frequency of 1 in 89. Clinical variability may be explained in part by genetic heterogeneity. At least eleven different genes (FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, and FANCL) have been identified; all of these except for FANCB, FANCI and FANCJ have been cloned. FANCD1 is identical to BRCA2, a known gene currently linked to breast cancer susceptibility. Complementation studies and mutation analysis can be used to determine which of these genes is defective in an FA patient. The IFAR was established at the Rockefeller University in 1982 in order to study a large number of patients exhibiting the full spectrum of diverse features of FA. Questions relating to diagnosis, natural history of the disease, prognosis, treatment and cancer incidence in FA are being addressed by the IFAR studies. Information regarding genotype-phenotype correlation is being obtained; we hope this will help to determine the physiologic roles of the cloned genes.

We are also interested in the rate of cancer in FA carriers, as it has been previously suggested that heterozygote carriers of homozygous recessive familial cancer syndromes are at increased risk for cancer. BRCA2 carriers are known to be at increased risk for certain cancers; thus the identification of BRCA2 as a Fanconi anemia gene (complementation group FA-D1) may have significant impact on the cancer risk of family members of patients in the FA group. Since it is now possible to ascertain the carrier status of FA family members by means of molecular tests rather than impute carrier status through probabilities, it may be possible to arrive at a definitive answer to the role of heterozygosity among Fanconi anemia carriers via this protocol. In addition, we are also currently investigating the incidence of cancer in FA carriers by determining the cancer rates in grandparents of FA patients.

Patients affected with Fanconi anemia and their families will be seen in the Outpatient Research Center at The Rockefeller University Hospital.

Each patient will receive a complete physical examination and drawing of blood for various laboratory studies.

Consultations with subspecialists in genetics and hematology will be obtained.

Genetic counseling and dietary instruction will be provided. Profile:
Patients affected with Fanconi anemia

What specifically makes a person eligible for the study?
You may be eligible to enter this study:

Patients affected with Fanconi anemia and their families


All Ages

Children permitted to participate:

Potential Benefits.....
Patients will benefit from subspecialty evaluations and second opinions. The finding of abnormal laboratory results may suggest some manifestations of FA amenable to treatment, which may improve the quality of life (and potentially the quantity/length) of life for the subjects. Accurate diagnosis will provide a basis for advising patients and their families regarding the clinical course of their disease. Genetic counseling will provide families with information to make family planning decisions. By entering into the registry, patients will have the ability to stay abreast of new developments in the field and research in progress.