A New Research Associates Epimutations with Breast Cancer Risk

A new research has discovered that epimutations could obstruct the normal defensive functioning of the BRCA1 gene, whose mutations can give birth to breast and ovarian cancers.

The study was carried out by a crew of researchers from the Peter MacCallum Cancer Centre, the University of Melbourne and the University of Queensland. During their research, they detected epimutation in some of the breast cancer affected women before they reach the age of 40, but there was not found BRCA1 mutations in them. Epimutations are not inherited genetically like BRCA1 gene mutations.

As told by Professor Melissa Southey from the University of Melbourne Department of Pathology and lead author of the study, the early occurrence of the breast cancer in some women i. e. around 10% could be contributed by the factors that initiate epimutations and blocks the prevention activity of gene BRCA1.

She said, “For about 3-4% of young women, their BRCA1 gene has been made less capable of preventing breast cancers by some unknown factors”. She added that such women possess 3.5 times more risk of getting affected with breast cancer. The association of epimutation with breast cancer can open doors for more researches in this context.

The detection of epimutation in the peripheral blood signaled that it could also be present in tissues of the body, as expressed by Alexander Dobrovic, Associate Professor from the Pathology Department of the Peter MacCallum Cancer Centre.