Scientists at the Lundberg Laboratory for Cancer Research in Sweden have identified a new hereditary breast cancer gene linked to a deformity syndrome. Women with the gene have a twenty-times higher risk of contracting breast cancer. The gene is linked to Saethre-Chotzen syndrome, which primarily involves malformations of the skull, face, hands, and feet. The syndrome is caused by mutations in a gene called TWIST1. "Our findings provide new knowledge of hereditary cancer genes and how they can cause breast cancer. The discovery also makes it possible to uncover breast cancer in women who have a predisposition for Saethre-Chotzen malformation syndrome," said researcher Göran Stenman.
The researchers suggest that women with this syndrome should receive early mammograms in order to discover breast cancer at an early stage. "Our findings show that women with this syndrome run a nearly twenty-times greater risk of contracting breast cancer than expected. Moreover, many of the women were young when they were affected," noted Stenman.
The researchers have already started to use the new finding in their work with patients and now recommend regular mammograms for young women with this syndrome. Several early cases of breast cancer have already been uncovered. They now intend performing various experiments to chart the mechanism of how TWIST1 increases the risk of breast cancer. Studies are also under way to find out what proportion of cases of hereditary breast cancer are caused by mutations in the TWIST1 gene.
Source: Swedish Research Council
