Dr. Alter developed an interdisciplinary clinical research program, conducting systematic investigations of cancer in the inherited bone marrow failure syndromes (http://marrowfailure.cancer.gov/). The prototype disorder for this program is Fanconi anemia, in which there is a large excess of unusual cancers that occur at atypically early ages, including myelodysplastic syndrome, acute myeloid leukemia, and cancers of the oral cavity and oropharynx, esophagus, cervix and vulva, and liver.
This project involves active, protocol-driven clinical research. Investigations include surveys to determine the incidence and characteristics of cancer in each of the syndromes; case-control studies to identify additional risk factors and perhaps new cancer pathways; genotype/phenotype correlations with reference to cancer susceptibility; heterozygote surveys with regard to the possible relation between the carrier state and cancer; and biologic studies of the tumors to determine their resemblance to their counterparts in the general population. The patients who have these syndromes comprise a group at high risk of cancer which may be suitable for studies of cancer screening and prevention modalities.