Mutations in known breast cancer genes such as BRCA1 and BRCA2 are identified in only approximately 20 per cent of women who are offered genetic testing for familial breast cancer.
Researchers at the University of Melbourne, led by Professor Melissa Southey, looked at 210 people from 25 multiple-case breast cancer families. They identified 24 previously unknown epigenetic changes that alter a woman’s risk of breast cancer and can be passed down through generations without involving changes in the DNA sequence of genes.
“For the majority of women who undergo genetic testing, there is no explanation for their breast cancer predisposition,” said Professor Southey, from the Department of Clinical Pathology at the University of Melbourne and Chair of Precision Medicine at Monash University.
“This ground-breaking work is not only helpful for women from families with many cases of breast cancer, it will improve breast cancer risk prediction for all women, and pave the way for the development of epigenetic therapeutics for breast cancer.”
The study, published in Nature Communications, looks at epigenetic changes called DNA methylation, where methyl group chemicals modify DNA without changing its sequence. DNA methylation can mimic genetic variation, predisposing a family to breast cancer. The study
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