A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
Memorial Sloan Kettering Cancer Center · Rockefeller University
Abstract
Fanconi anemia (FA) is an autosomal recessive disorder characterized by cellular hypersensitivity to DNA cross-linking agents and cancer predisposition. Recent evidence for the interactions of ataxia-telangiectasia mutated protein ATM and breast cancer susceptibility proteins BRCA1 and BRCA2 (identified as FANCD1) with other known FA proteins suggests that FA proteins have a significant role in DNA repair/recombination and cell cycle control. The International Fanconi Anemia Registry (IFAR), a prospectively collected database of FA patients, allows us the unique opportunity to analyze the natural history of this rare, clinically heterogeneous disorder in a large number of patients. Of the 754 subjects in this…
Citation impact
- FWCI
- 12.83
- Percentile
- 100%
- References
- 54
Authors
8- DIDavid I. KutlerCorresponding
Memorial Sloan Kettering Cancer Center, Rockefeller University
- BSBhuvanesh Singh
Memorial Sloan Kettering Cancer Center, Rockefeller University
- JMJaya M. Satagopan
Memorial Sloan Kettering Cancer Center, Rockefeller University
- SDSat Dev Batish
Memorial Sloan Kettering Cancer Center, Rockefeller University
- MBMarianne Berwick
Memorial Sloan Kettering Cancer Center, Rockefeller University
Topics & keywords
- Fanconi anemia
- Bone marrow failure
- Medicine
- Aplastic anemia
- Internal medicine
- Oncology
- Cancer
- Hematopoietic stem cell transplantation
- No poverty