Researchers identify new hereditary breast cancer gene
Apr 26 (ANI): Researchers in Sweden have discovered a new hereditary breast cancer gene. The discovery was made during a study conducted by researchers at the Lundberg Laboratory for Cancer Research and the Plastic Surgery Clinic at the Sahlgrenska Academy in Sweden.
They noted that women with a certain hereditary deformity syndrome run a nearly twenty times higher risk of contracting breast cancer than expected.
By detailed mapping of families with Saethre-Chotzen syndrome, the Göteborg scientists have now found that women with this syndrome have an elevated risk of contracting breast cancer. Saethre-Chotzen is a syndrome that primarily involves malformations of the skull, face, hands, and feet. The syndrome is caused by mutations in a gene called TWIST1.
“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 by breast cancer,” said Göran Stenman.
The findings of the study show that women with this syndrome should be receive early mammograms in order to discover breast cancer at an early stage.
“We have already started to use this new knowledge in our work with patients and now recommend regular mammograms for young women with this syndrome. Several early cases of breast cancer have already been uncovered with mammography,” says Pelle Sahlin, chief physician at the Plastic Surgery Clinic.
The Researchers now state that the findings are extremely important as they can help provide new knowledge of hereditary cancer genes, as well as new information how such genes can cause breast cancer.
“Our findings are extremely important, providing 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 Göran Stenman.
The scientists are now going to perform 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. (ANI)
















