“The Breast Cancer Association Consortium,” comprising 15 research groups from around the world, has studied the congenital propensity for breast cancer in a population of almost 40,000 women, examining nine common gene variants with suspected significance for breast cancer. Their results show that two of these genes actually go part way to determining the risk of developing breast cancer.

One of the two gene variants codes for a protein called Caspase 8, the role of which is to make sure that the body rids itself of damaged cells that could otherwise be mutated into cancer cells. The other gene, TGFBI, produces a growth factor that probably makes the cells develop uninhibitedly and increases the likelihood of their being transformed into cancer cells.

The risks associated with these genetic variants are small, but unlike formerly known “breast cancer genes”, these changes are very common: roughly 25% of all Europeans carry the Caspase 8 gene variant.

According to Sara Wedrén, one of the researchers from Karolinska Institutet working on the study, the finds have no immediate significance for women with breast cancer.

“But the results are important for science as they help us understand the mechanisms behind the disease. We can now move on and study if lifestyle factors can interact with the genetic sensitivity.”

This is the first time in the field of breast cancer research that a large number of research groups have been working together towards the same objective. This and the sheer size of the study can be considered almost as unique as the results themselves.

“A common coding variant in CASP8 is associated with breast cancer risk.” Nature Genetics, 11 Feb 2007

For further information, please contact:

Per Hall, Department of Medical Epidemiology and Biostatistics.
Phone: +46 8-524 861 52, +46 733-96 05 90 (mobile)
E-mail: per.hall@ki.se

Sara Wedrén, Department of Medical Epidemiology and Biostatistics.
Phone: +46 705-54 54 40
E-mail: sara.wedren@ki.se

Press Officer: Katarina Sternudd, phone: +46 8-524 838 95, e-mail: katarina.sternudd@ki.se