Publications by authors named "Mathieu Sene"
Background: Lynch syndrome is an autosomal dominant cancer predisposition syndrome classically caused by germline mutations of the mismatch repair genes MLH1, MSH2, MSH6 and PMS2. Epimutation (also called germline hypermethylation) of the MLH1 gene promoter explains rare Lynch syndrome cases. To date, there is no recommendation regarding the techniques to be used to detect this epimutation, nor any clinical criteria for when it should be investigated.
View Article and Find Full Text PDFNoninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons.
Clin Cancer Res
April 2025
Purpose: The detection of ctDNA, which allows noninvasive tumor molecular profiling and disease follow-up, promises optimal and individualized management of patients with cancer. However, detecting small fractions of tumor DNA released when the tumor burden is reduced remains a challenge.
Experimental Design: We implemented a new, highly sensitive strategy to detect bp resolution methylation patterns from plasma DNA and assessed the potential of hypomethylation of long interspersed nuclear element-1 retrotransposons as a noninvasive multicancer detection biomarker.
Article Synopsis
- Head and neck squamous cell carcinoma (HNSCC) shows significant genetic diversity within tumors, complicating targeted treatment approaches and making traditional imaging ineffective for detecting minimal residual disease (MRD).
- A study of 41 patients with resectable HNSCC found that circulating tumor DNA (ctDNA) can serve as a biomarker for assessing tumor heterogeneity and MRD, with notable detection rates at surgery and recurrence.
- The presence of ctDNA shortly after surgery correlated with disease recurrence, providing an early warning about potential relapse, thus supporting its role in post-operative monitoring and precision medicine strategies.