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Inherited bone marrow failure syndromes study

Blanche Alter

6 Collaborator(s)

Funding source

National Cancer Institute (NIH)
This project is studying families with diverse inherited bone marrow failure syndromes, including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, to investigate mechanisms of human susceptibility to leukemia, head/neck cancers and anogenital cancers. We enroll affected individuals and their immediate family members, and gather data on a wide range of clinical, epidemiologic, genetic, behavioral and laboratory features of these syndromes. We determine the specific types of cancers and quantify the risks of these cancers in each syndrome, and with the genotype and phenotype of the patients. We are engaged in sequencing of known genes and identification of new genes mutated in these families. We evaluate carcinogenic risk factors, such as the possible role of the human papilloma virus (HPV) as a risk factor for some of the solid tumors which occur excessively in these patients. We will be performing genotype/phenotype correlations, and investigating the possibility that heterozygous carriers of the recessive bone marrow failure disorders might be at increased risk of malignancy as well.

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