Analysis of recurrently protected genomic regions in cell-free DNA found in urine
Markus et al.
The finding, in our words
Urine cell-free DNA exhibits stable fragmentation patterns even after at-home collection and processing delays, with recurrently protected genomic regions that differ from plasma. Cancer patients show a higher frequency of aberrant fragments within these regions, enabling diagnostic discrimination with an area under the curve of 0.89.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
The study found that testing for ASCL1/LHX8 DNA methylation in at-home collected first-void urine can detect most cervical cancers and high-grade precancers, supporting a fully molecular screening pathway without a clinical visit.
Van Keer et al., Communications medicine · source ↗
The authors developed an integrated sequencing workflow that simultaneously profiles copy number aberrations and a three-gene methylation panel from home-collected urine cell-free DNA, achieving high diagnostic accuracy for both primary and recurrent bladder cancer in a cohort of 89 participants, which supports the feasibility of decentralised cancer detection from self-collected urine samples.
Beijert et al., JCO precision oncology (paywalled) · source ↗
An eight-millilitre sample of first-morning urine self-collected without prostatic massage yields reproducible microbial profiles using PathoChip microarray. The workflow identified Streptococcaceae enrichment in higher-grade prostate cancer, supporting its potential for decentralised, non-invasive screening, though larger validation cohorts are needed.
Mello-Grand et al., The journal of liquid biopsy (paywalled) · source ↗
In a Belgian colposcopy referral cohort, a study found that 66.6% of women preferred home-based first-void urine self-sampling over physician-taken samples, and 96.6% found the Colli-Pee UCM FV-5010 device easy to use. This supports patient-centric, decentralised screening, though results are limited to this specific referral population.
Hendrickx et al., Archives of public health = Archives belges de sante publique · source ↗
This review summarises how emerging HPV detection methods including CRISPR/Cas systems, droplet digital PCR and isothermal amplification, combined with self-collected vaginal swabs and liquid biopsy from urine or blood, could improve screening acceptability and enable point-of-care testing compared with conventional approaches that require invasive sampling and centralised laboratory infrastructure.
Shi et al., Frontiers in cellular and infection microbiology · source ↗