#IDIBELLseminars: Gynecological cancer detection in at-home collected samples: the promise of methylation testing in urine

Molecular biomarkers can be used to detect cancer in minimally- and non-invasive sample types. An emerging biomarker for early cancer detection is DNA methylation, a common epigenetic event associated with tumor suppressor gene silencing.
To study the diagnostic potential of methylation markers for gynecological cancer detection, we have collected paired urine samples, self-collected cervicovaginal swabs, and cervical scrapes from women diagnosed with cervical (pre)cancer, endometrial cancer and ovarian cancer. Urine and cervicovaginal swabs were collected at home.
Both for cervical (pre)cancer and endometrial cancer it was found that methylation levels were significantly increased in patients compared to controls in all sample types (>90% sensitivity/specificity). Results for ovarian cancer were less evident.
This demonstrates the potential of methylation testing in at-home collected material as a novel diagnostic strategy for the (early) detection of cervical and endometrial cancer.

Hosted by Laura Costas & Sonia Paytubi – Infections and Cancer group

Renske Steenbergen is Professor of Experimental Pathology at the Department of Pathology Amsterdam UMCs, Cancer Center Amsterdam, the Netherlands. She has a 30-year track record in basic and translational research on human papillomavirus (HPV)-induced carcinogenesis. Through the comprehensive molecular analysis of in vitro cell cultures models and clinical specimens, she developed DNA methylation and microRNA markers for cervical and anal cancer screening and for risk stratification of HPV-induced precancerous disease of the anus, cervix and vulva. In recent years her research focus extended towards early cancer detection in at-home collected samples, like urine. Besides HPV-induced cancers, these include bladder, endometrial, lung and ovarian cancer. She acts as a principal investigator in a highly interdisciplinary research team consisting of molecular biologists, clinicians, and biostatisticians and has published nearly 200 papers in peer-reviewed international journals.