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cfDNA in Hereditary And High-Risk Malignancies (CHARM)

Our goal is to improve early cancer detection by developing a blood test to predict cancer development in carriers using circulating DNA. As carriers develop cancer, they may have pre-cancerous cells which release this DNA into the blood (cell-free DNA; cfDNA), which can be detected with novel genetic technologies. We propose to use three complementary cfDNA assays:shallow whole genome sequencing (sWGS), Liquid-Biopsy Sequencing (LB-Seq) and Cell-free Methylated DNA Immunoprecipitation and High-throughput Sequencing (cfMeDip-Seq) for early cancer detection.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001009999 28
EGAD00001010000 30
EGAD00001010001 23
EGAD00001010002 173
EGAD00001010011 unspecified 151
EGAD00001010013 unspecified 174
Publications Citations
Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA.
Cancer Discov 14: 2024 104-119
10
Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns.
Nat Commun 15: 2024 7386
0