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Epimutation in BRCA1 gene may cause early-onset of breast cancer

November 12, 2017

"For about 3-4% of young women, their BRCA1 gene has been made less capable of preventing breast cancers by some unknown factors. This places them at a 3.5-fold increased risk of breast cancer. This discovery of this modification in BRCA1 gene provides impetus for further work in this area," she said.

Associate Professor Alexander Dobrovic from the Pathology Department of the Peter MacCallum Cancer Centre and the lead investigator on this collaborative study said that the discovery of this epimutation in the peripheral blood indicated that it was present in many tissues of the body.

"This is highly significant for the understanding of mechanisms of breast cancer development as it could drive the development of breast cancer in the same way as a mutation. Many questions remain unanswered, in particular what triggers this epimutation and whether women carrying this risk factor can reduce their risk by dietary or pharmacological intervention."

Testing for this risk factor will be unavailable until answers to these and other questions are known.

Source: University of Melbourne