AI Article Synopsis
- Genetic and non-genetic factors both play a role in breast cancer, and a new method using DNA methylation data aims to identify women at risk through easily accessible samples like cervical cells.
- In a study involving various sample types, researchers created the WID-BC-index, which successfully identifies breast cancer risk with strong validation scores.
- The findings suggest that specific epigenetic changes related to breast cancer risk are also detectable in cervical samples, potentially leading to new screenings for monitoring breast cancer risk in women.
Article Abstract
Genetic and non-genetic factors contribute to breast cancer development. An epigenome-based signature capturing these components in easily accessible samples could identify women at risk. Here, we analyse the DNA methylome in 2,818 cervical, 357 and 227 matched buccal and blood samples respectively, and 42 breast tissue samples from women with and without breast cancer. Utilising cervical liquid-based cytology samples, we develop the DNA methylation-based Women's risk IDentification for Breast Cancer index (WID-BC-index) that identifies women with breast cancer with an AUROC (Area Under the Receiver Operator Characteristic) of 0.84 (95% CI: 0.80-0.88) and 0.81 (95% CI: 0.76-0.86) in internal and external validation sets, respectively. CpGs at progesterone receptor binding sites hypomethylated in normal breast tissue of women with breast cancer or in BRCA mutation carriers are also hypomethylated in cervical samples of women with poor prognostic breast cancer. Our data indicate that a systemic epigenetic programming defect is highly prevalent in women who develop breast cancer. Further studies validating the WID-BC-index may enable clinical implementation for monitoring breast cancer risk.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8807602 | PMC |
| http://dx.doi.org/10.1038/s41467-021-27918-w | DOI Listing |
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