Individuals with the rare human genetic disease Fanconi anemia have an increased incidence of cancer. In many individuals, disease is caused by mutations in any one of 13 known genes (including FANCL) that generate proteins that function in one common signaling pathway that is known as the FA pathway. Whether this pathway has a role in human cancers in individuals who do not have Fanconi anemia has not been clearly determined.
But now, Peiwen Fei and colleagues, at the Mayo Clinic, Rochester, have identified a new form of the protein FANCL, which they named FAVL, that dysregulates the FA pathway in non-FA human tumor cells and acts as a tumor-promoting factor.
The authors therefore conclude that impairment of the FA pathway could contribute to the development of cancer in individuals who do not have Fanconia anemia.
The research appears in the Journal of Clinical Investigation.
Materials provided by Journal of Clinical Investigation. Note: Content may be edited for style and length.
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