FANCONI-ANEMIA RESEARCH - CURRENT STATUS AND PROSPECTS

Fanconi anaemia (FA) is an autosomal recessive disease featuring diver se clinical symptoms in addition to chromosomal instability and hypers ensitivity to crosslinking agents. The much increased risk of FA patie nts developing leukaemia and squamous cell carcinomas makes FA an impo rtant model disease for cancer predisposition. Studies documenting the characteristics of FA cells and their response to environmental toxin s have failed thus far to disclose the basic cellular process that is primarily disturbed in FA cells. Complementation analysis suggests tha t mutations in at least four different genes can cause FA (complementa tion groups FA-A to FA-D). The cDNA for FA-C has been cloned and found to encode a novel protein that localises to the cytoplasmic compartme nt of cells. Even though the protein's function is still unknown at pr esent, research has now reached the point from where rapid progress to a detailed understanding of this syndrome may be foreseen.