BRCA1, (breast cancer susceptibility gene 1), is involved in repairing damaged DNA or destroying cells when the DNA is beyond repair. Women with mutations in the BRCA1 gene have a predisposition to developing breast and ovarian cancer. OK, that wasn’t necessarily a newsflash, but wait…
EpiGenie reader, Alexander Dobrovic and his team at the Peter MacCallum Cancer Centre, the University of Melbourne, and the University of Queensland, recently picked up on some changes at the epigenetic level that may predispose women to breast cancer, even if they don’t have a faulty BRCA1 gene.
Dobrovic’s team studied 255 women diagnosed with breast cancer before the age of 40 but didn’t have any BRCA1 genetic mutations. The epimutation was found in the blood of some women who had the same tumor characteristics that women with BRCA1 gene mutations develop. The investigators showed that DNA methylation of the BRCA1 gene’s promoter region predisposed these women to a 3.5-fold increased risk of developing breast cancer.
Because only 25% of breast cancers diagnosed before age of 40 years occur in women with a BRCA1 genetic mutation, Dobrovic and colleagues suggest the epimutation is another source of the predisposition to the disease and propose using it as a biomarker to identify women who could benefit from preventative chemotherapy or other treatments.