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Last Posted: Sep 29, 2022
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Circulating Cell-free DNA and Screening for Trisomies.
Norton Mary E et al. The New England journal of medicine 2022 9

In addition to cfDNA being released from placental cells, cfDNA is also released during the routine turnover of a person’s normal cells. Other sources of circulating cfDNA include tumors, transplanted organs, and infectious organisms. The analysis of a patient’s cfDNA can therefore provide information that is useful for the diagnosis and monitoring of cancer, the assessment of transplant-graft rejection, and the diagnosis of infectious diseases — in addition to prenatal screening for trisomies.

Nanopore-based technologies beyond DNA sequencing
YL Ying et al, Nature Biotechnology, September 26, 2022

we present an overview of the broad applications of nanopores in molecular sensing and sequencing, chemical catalysis and biophysical characterization. We highlight the prospects of applying nanopores for single-protein analysis and sequencing, single-molecule covalent chemistry, clinical sensing applications for single-molecule liquid biopsy.

Liquid biopsies and tumor mutational burden: the cutoff conundrum
PM Kazi et al, Nature Medicine, September 12, 2022

One of the biggest advances in cancer care has been the advent of immunotherapy, and one of the biggest challenges is predicting which patients are most likely to benefit from it. Several predictive markers have been proposed, with the assessment of the quantity of mutations in a cancer (known as the tumor mutational burden, or TMB) being one of the most promising, particularly as it can be evaluated in the form of a noninvasive, blood-based ‘liquid biopsy’. Assessment of tumor mutational burden through a simple blood test could help to identify which patients are most likely to benefit from immunotherapy, but optimal cutoffs are not well established.

cfDNA methylome profiling for detection and subtyping of small cell lung cancers.
Chemi Francesca et al. Nature cancer 2022 8

We describe a robust workflow for genome-wide DNA methylation profiling applied to both patient-derived models and to patients' circulating cell-free DNA (cfDNA). Tumor-specific methylation patterns were readily detected in cfDNA samples from patients with SCLC and were correlated with survival outcomes. cfDNA methylation also discriminated between the transcription factor SCLC subtypes, a precedent for a liquid biopsy cfDNA-methylation approach to molecularly subtype SCLC. Our data reveal the potential clinical utility of cfDNA methylation profiling as a universally applicable liquid biopsy approach for the sensitive detection, monitoring and molecular subtyping of patients with SCLC.


Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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