Article ; Online: Cell-free DNA fragmentomics and second malignant neoplasm risk in patients with PTEN hamartoma tumor syndrome.
Cell reports. Medicine
2024 Volume 5, Issue 2, Page(s) 101384
Abstract: Individuals with PTEN hamartoma tumor syndrome (PHTS) harbor pathogenic germline PTEN variants that confer a significantly increased lifetime risk of various organ-specific cancers including second primary malignant neoplasms (SMNs). Currently, there are ...
Abstract | Individuals with PTEN hamartoma tumor syndrome (PHTS) harbor pathogenic germline PTEN variants that confer a significantly increased lifetime risk of various organ-specific cancers including second primary malignant neoplasms (SMNs). Currently, there are no reliable biomarkers that can predict individual-level cancer risk. Despite the highly promising value of cell-free DNA (cfDNA) as a biomarker for underlying sporadic cancers, the utility of cfDNA in individuals with known cancer-associated germline variants and subclinical cancers remains poorly understood. We perform ultra-low-pass whole-genome sequencing (ULP-WGS) of cfDNA from plasma samples from patients with PHTS and cancer as well as those without cancer. Analysis of cfDNA reveals that patients with PHTS and SMNs have distinct cfDNA size distribution, aberrant genome-wide fragmentation, and differential fragment end motif frequencies. Our work provides evidence that cfDNA profiles may be used as a marker for SMN risk in patients with PHTS. |
---|---|
MeSH term(s) | Humans ; Hamartoma Syndrome, Multiple/diagnosis ; Hamartoma Syndrome, Multiple/genetics ; Hamartoma Syndrome, Multiple/complications ; PTEN Phosphohydrolase/genetics ; Neoplasms ; Germ-Line Mutation ; Cell-Free Nucleic Acids/genetics |
Chemical Substances | PTEN Phosphohydrolase (EC 3.1.3.67) ; Cell-Free Nucleic Acids ; PTEN protein, human (EC 3.1.3.67) |
Language | English |
Publishing date | 2024-01-18 |
Publishing country | United States |
Document type | Journal Article |
ISSN | 2666-3791 |
ISSN (online) | 2666-3791 |
DOI | 10.1016/j.xcrm.2023.101384 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.
Inter-library loan at ZB MED
Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.