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Updated: Mar 20, 2026
Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
DNA Methylation Signatures in Vaginal Fluid Samples for Detection of Cervical and Endometrial Cancer
Konstantinos Doufekas1, Shijie Charles Zheng, Shohreh Ghazali
1*Department of Women's Cancer, Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, United Kingdom; †CAS Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai; and ‡University of Chinese Academy of Sciences, Beijing, China; and §UCL Cancer Institute, University College London, London, United Kingdom.
Objective:
A noninvasive tool that allows individuals to be monitored who are at risk of developing a malignancy is an unmet need. Such a test would need to consist of a molecular signature that allows for gradual judgment to assess the efficacy of preventive strategies. Here we performed a proof-of-principle study to test whether a DNA methylation (DNAme) signature in fluid collected from the vagina is able to identify women with cervical or endometrial cancer.
Materials And Methods:
DNA from vaginal fluid samples from 111 women (30, 8, 73 with endometrial cancer, cervical cancer, and benign gynecological conditions, respectively) were analyzed for DNAme using the Illumina 450k DNA methylation bead array assay, which allows the assessment of DNAme at more than 480.000 CpG sites. We developed a cervical and an endometrial cancer DNAme signature by comparing normal and cancerous cervical and endometrial samples from the publicly available The Cancer Genome Atlas data and developed deviation scores to assess the potential of discriminating cancer from a control sample using a vaginal fluid DNAme signature.
Results:
More than 60% of variations in DNAme in our vaginal fluid cannot be explained by those clinical or technical factors that we were aware of. Both the cervical and the endometrial cancer DNAme signature resulted in receiver operating characteristic area under the curve between 0.75 and 0.83 to discriminate controls and the cancers for which the signature has been designed for.
Conclusions:
Whole DNAme signatures based on array technologies in body fluids are able to discriminate cancer cases from controls.
