Fanconi anemia and the development of leukemia
BP Alter - Best practice & research Clinical haematology, 2014 - Elsevier
Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone marrow
failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a
DNA repair pathway. The major complications are aplastic anemia, acute myeloid leukemia
(AML), myelodysplastic syndrome (MDS), and specific solid tumors. A severe subset, due to
mutations in FANCD1/BRCA2, has a cumulative incidence of cancer of 97% by age 7 years;
the cancers are AML, brain tumors, and Wilms tumor; several patients have multiple events …
failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a
DNA repair pathway. The major complications are aplastic anemia, acute myeloid leukemia
(AML), myelodysplastic syndrome (MDS), and specific solid tumors. A severe subset, due to
mutations in FANCD1/BRCA2, has a cumulative incidence of cancer of 97% by age 7 years;
the cancers are AML, brain tumors, and Wilms tumor; several patients have multiple events …