A new genetic study reveals why some women get

In a recent study published in JAMA Oncology, Researchers from the University of Bergen, in collaboration with the Women’s Health Initiative (WHI) study in the United States, reported that epigenetic gene silencing in normal tissues was a predictor for triple negative breast cancer (TNBC). ) as well as for high-grade serous cancer. ovarian cancer (HGSOC). These are aggressive types of tumors associated with a serious prognosis.

The type 1 breast cancer gene (BRCA1) is the most mutated gene in families with hereditary breast and ovarian cancer. In the study, researchers found that women with low-level mosaic methylation of BRCA1 had a 2.5-fold increased risk of TNBC and a 1.8-fold increased risk of HGSOC.

Professor Lønning, researcher leading the study, comments:

“These findings may have important implications for our understanding of the origin of a substantial fraction of these cancers. Previously, we detected similar low-level mosaic methylation of BRCA1 in the cord blood of neonates, indicating that such methylation can develop even before birth. In our present study, carried out in collaboration with the WHI, we found BRCA1 methylation in blood samples taken years before cancer diagnosis is associated with an elevated risk of TNBC as well as HGSOC. For the first time, this confirms that such methylation is a risk factor for cancer. The fact that such methylation occurs in the embryonic stage means that we need to find out the reason why it happens, whether it can be related to environmental influence or other factors. Furthermore, it raises the provocative question of whether similar methylation can also affect other known cancer risk genes and, if so, be a trigger for other forms of cancer.


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