Multimodal analysis of cell-free DNA enhances differentiation of early-stage breast cancer from benign lesions and healthy individuals
Publisher:BMC Biology
Publication date:20 August 2025This publication supports for the following genetic testing:
Cost-effective shallow genome-wide sequencing for profiling plasma cfDNA signatures to enhance lung cancer detection
Publisher:Future Oncology
Publication date:25 March 2025This publication supports for the following genetic testing:
Prospective validation study: a non-invasive circulating tumor DNA-based assay for simultaneous early detection of multiple cancers in asymptomatic adults
Publisher:BMC Medicine
Publication date:14 February 2025This publication supports for the following genetic testing:
Combination of Hotspot Mutations With Methylation and Fragmentomic Profiles to Enhance Multi-Cancer Early Detection
Publisher:Cancer Medicine
Publication date:03 January 2025This publication supports for the following genetic testing:
Evaluation of a multimodal ctDNA-based assay for detection of aggressive cancers lacking standard screening tests
Publisher:Future Oncology
Publication date:21 October 2024This publication supports for the following genetic testing:
A consultation and work-up diagnosis protocol for a multicancer early detection test: a case series study
Key finding:
The emergence of multicancer early detection (MCED) tests holds promise for improving early cancer detection and public health outcomes. However, positive MCED test results require confirmation through recommended cancer diagnostic imaging modalities. To address these challenges, we have developed a consultation and work-up protocol for definitive diagnostic results post MCED testing, named SPOT-MAS. Developed through circulating tumor DNA (ctDNA) analysis and in line with professional guidelines and advisory board consensus, this protocol standardizes information to aid general practitioners in accessing, interpreting and managing SPOT-MAS results. Clinical effectiveness is demonstrated through a series of identified cancer cases. Our research indicates that the protocol could empower healthcare professionals to confidently interpret circulating tumor DNA test results for 5 common types of cancer, thereby facilitating the clinical integration of MCED tests.Authors:
Luu Hong Dang Nguyen,Ba Linh Tieu,Thi Thanh Nguyen,Nhung Phuong Ha,Giang Thi Huong Nguyen,Thi Hue Hanh Nguyen,Van Hoi Le,Vinh Quang Bui,Lan Hieu Nguyen,Nhu Hiep Pham,Thanh Hai Phan,Huu Thinh Nguyen,Van Song Tran,Chi Viet Bui,Van Kha Vo,Pham Thanh Nhan Nguyen,Ha Huu Phuoc Dang,Van Dung Pham,Van Thinh Cao,Ngoc Minh Phan,Van Tung Nguyen,Thi Le Quyen Le,Thi Lan-Anh Luong,Thi Kim Phuong Doan,Canh Duy Phan,Thanh Xuan Nguyen,Nguyen Tuong Pham,Bao Toan Nguyen,Thi Thu Thuy Pham,Huu Linh Le,Cong Thanh Truong,Thanh Xuan Jasmine,Minh Chi Le,Van Bau Phan,Quang Binh Truong,Thi Huong Ly Tran,Minh Thien Huynh,Tu Quy Tran,Si Tuan Nguyen,Vu Tran,Van Khanh Tran,Huu Nguyen Nguyen,Thi Van Phan,Thi Thanh-Thuy Do,Dinh Kiet Truong,Hoa Giang,Hoai-Nghia Nguyen,Minh-Duy Phan,Le Son Tran,Hung Sang Tang &Duy Sinh NguyenPublisher:Future Science OA
Publication date:10 September 2024This publication supports for the following genetic testing:
Tissue of origin detection for cancer tumor using low-depth cfDNA samples through combination of tumor-specific methylation atlas and genome-wide methylation density in graph convolutional neural networks
Key finding:
We have demonstrated that our TSMA in combination with other cfDNA features can improve TOO detection in low-depth cfDNA samples.Publisher:Genetics in Medicine
Publication date:25 December 2023This publication supports for the following genetic testing:
Multimodal analysis of methylomics and fragmentomics in plasma cell-free DNA for multi-cancer early detection and localization
Key finding:
eLife assessment: This study provides insights into the early detection of malignancies with noninvasive methods by developing a framework, which assesses methylation, CNA, and other genomic features. They established a solid model in discriminating malignancies from healthy controls, as well as the ability to distinguish tumor of origin. This important study will demonstrate its practical impacts in the clinic and other researchers of the field.Publisher:eLife Science
Publication date:11 October 2023This publication supports for the following genetic testing:
Multimodal analysis of genome-wide methylation, copy number aberrations, and end motif signatures enhances detection of early-stage breast cancer
Key finding:
The article showed that a multimodal liquid biopsy assay based on analysis of cfDNA methylation, CNA and EM could enhance the accuracy for the detection of early- stage breast cancer. By identifying distinct profiles of genome-wide methylation changes (GWM), copy number alterations (CNA), and 4-nucleotide oligomer (4-mer) end motifs (EM) in cfDNA of breast cancer patients, combination model outperformed base models built from individual features, achieving an AUC of 0.91 (95% CI: 0.87-0.95), a sensitivity of 65% at 96% specificity.Publisher:Frontiers in Oncology
Publication date:08 May 2023This publication supports for the following genetic testing:
Fragment length profiles of cancer mutations enhance detection of circulating tumor DNA in patients with early-stage hepatocellular carcinoma
Key finding:
Our model achieved an area under the curve (AUC) of 0.88, a sensitivity of 89%, and a specificity of 82% in the discovery cohort consisting of 55 PwHCC and 55 healthy participants. In an independent validation cohort of 54 PwHCC and 53 healthy participants, the established model achieved comparable classification performance with an AUC of 0.86 and yielded a sensitivity and specificity of 81%.Publisher:BMC Cancer
Publication date:13 March 2023This publication supports for the following genetic testing:
Circulating DNA methylation profile improves the accuracy of serum biomarkers for the detection of nonmetastatic hepatocellular carcinoma
Key finding:
This study exploited hepatocellular carcinoma (HCC)-specific circulating DNA methylation profiles to improve the accuracy of a current screening assay for HCC patients in high-risk populations.Publisher:NIH - National Library of Medicine
Publication date:14 February 2023This publication supports for the following genetic testing:
Clinical validation of a ctDNA-Based Assay for Multi-Cancer Detection: An Interim Report from a Vietnamese Longitudinal Prospective Cohort Study of 2795 Participants
Key finding:
Our analysis of 2795 participants from 14 sites across Vietnam demonstrates its ability to detect cancers in asymptomatic individuals with a positive predictive value of 60%, with 83.3% accuracy in detecting tumor location.Publisher:Cancer Investigation
Publication date:06 February 2023This publication supports for the following genetic testing:
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