Poster Presentation 44th Lorne Genome Conference 2023

A novel PCR-based molecular tool for the screening of hypermethylated genes associated with endometrial cancer, using Thinprep®   (#270)

Vinod Benjamin 1 , Anansa S. Ahmed 1 , Clement P.H. Boey 1 , Tat S Lau 2 , Richard K.W. Choy 2 , Jacqueline H.S. Lee 2 , Chia-Pin Chang 1
  1. INEX Innovate, Singapore, SINGAPORE
  2. Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR, China

Endometrial cancer is one of the most commonly diagnosed gynaecologic cancers globally. To date, there has been little advancement in the screening of endometrial cancer, especially in post-menopausal women with abnormal uterine bleeding. The current gold standard of endometrial cancer diagnosis is the extraction of biopsy samples through dilation and curettage. However, dilation and curettage is an invasive and painful technique which requires hospital admission for the patient and the expertise of a pathologist for the review of cancer status. Here, we introduce a novel outpatient screening method combining minimally invasive endometrial swab and a PCR-based molecular tool. Using hypermethylated genes as a marker, we identify patients at risk for endometrial cancer. Our results show high (>90%) sensitivity and specificity for the hypermethylated markers of endometrial cancer in endometrial cancer cell lines, retrospective clinical samples (FFPE) and prospective clinical samples. Altogether, we have developed a minimally invasive molecular screening tool that will allow the screening of endometrial cancer while increasing access to early cancer detection.