Supported Research

Cancer in Heterozygote Carriers of Fanconi Anemia


Amount Funded: $300,000

Fanconi anemia increases the risk of cancer as individuals’ age. This is likely due to defects in the Fanconi DNA repair pathway that lead to the formation of rare cancer-causing mutations. Fanconi anemia individuals are defective in both copies of a Fanconi gene (one from mom and one from dad) and thus are fully defective in Fanconi DNA repair. However, their parents are also partially defective (50%) because each parent carries one defective copy of the Fanconi gene. Dr. Alter hypothesizes that FA parents may also have a small increased risk of cancer as they age. This new grant will allow Dr. Alter and her team to study almost 600 FA relatives (siblings, parents, grandparents) to determine their cancer risk. If there is an increased risk, these studies will bring awareness to FA families and improve strategies for cancer prevention and early detection.

Researchers: Blanche P. Alter