A pathway leading to activation of BRCA1

Fanconi anaemia is a rare inherited disorder that causes children to develop bone marrow failure. Although a bone marrow transplant can cure the anaemia, many patients go on to develop a variety of cancers.

The disorder is brought about by a mutation in any one of seven genes — five of which have been cloned. The proteins produced by these five genes form an enzyme that activates the sixth gene. Research teams led by Alan D'Andrea, of the Dana-Farber Cancer Institute in Boston, and Markus Grompe, of the Oregon Health Sciences University in Portland, report in the 16 February Molecular Cell that they have cloned and identified that sixth gene, called FANCD2 (Mol Cell 2001, 7: 241-248). In a second the group also reports that FANCD2 produces a protein that switches on BRCA1 (Mol Cell 2001, 7: 249-262).

Approximately 50% of women with a strong family history of...