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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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255 hot topic(s) found with the query "Liquid biopsy"

Clinical Application of Different Liquid Biopsy Components in Hepatocellular Carcinoma
J Xu et al, JPM, April 15, 2024 (Posted: Apr 15, 2024 2PM)

From the abstract: "Hepatocellular carcinoma (HCC) is the most common form of primary liver cancer, usually occurring in the background of chronic liver disease. HCC lethality rate is in the third highest place in the world. Patients with HCC have concealed early symptoms and possess a high-level of heterogeneity. Once diagnosed, most of the tumors are in advanced stages and have a poor prognosis. The sensitivity and specificity of existing detection modalities and protocols are suboptimal. HCC calls for more sophisticated and individualized therapeutic regimens. Liquid biopsy is non-invasive, repeatable, unaffected by location, and can be monitored dynamically. It has emerged as a useable aid in achieving precision malignant tumor treatment."


Concurrent Tissue and Circulating Tumor DNA Molecular Profiling to Detect Guideline-Based Targeted Mutations in a Multicancer Cohort.
Wade T Iams et al. JAMA Netw Open 2024 1 (1) e2351700 (Posted: Jan 23, 2024 7AM)

In this cohort study of 3209 patients undergoing concurrent testing across 4 cancer types who received both tissue-based and ctDNA genomic profiling results, 45.1% had a guideline-based variant detected. Of these patients, 9.3% had a clinically actionable variant detected by ctDNA profiling that was not detected by solid-tissue testing, and 24.2% had a variant detected by solid-tissue testing but not by ctDNA profiling; for patients with breast cancer with actionable variants, 20.2% had a unique, guideline-based variant detected by ctDNA profiling; most (55.0%) of these unique ctDNA variants were in the ESR1 gene. The study suggests that concurrent ctDNA–based and tissue-based genomic profiling identified more patients with targetable, guideline-based variants than would have been discovered by tissue profiling alone, with a higher detection rate among patients with breast cancer. "


Concurrent Circulating Tumor DNA and Tissue Genotyping-Ready for Prime Time?
Benjamin A Bleiberg et al. JAMA Netw Open 2024 1 (1) e2351679 (Posted: Jan 23, 2024 7AM)

From the article: "Cell-free circulating tumor DNA (ctDNA) is shed by tumor cells into the systemic circulation and, thanks to advancements in next-generation sequencing (NGS) technologies, affords the opportunity to noninvasively detect cancer-specific somatic variants. The use of ctDNA-based molecular genotyping for tumor profiling and identification of patients eligible for targeted therapies has been integrated into clinical practice for a variety of tumor types. The prime example of this is in non–small cell lung cancer (NSCLC), where identifying actionable variants via genomic profiling is essential to determining the appropriate standard of care for patients. "


What Will 2024 Mean for NGS and Genomics?
J Lemieux, GenNew, January 12, 2024 (Posted: Jan 14, 2024 10AM)

From the article: "Recent technological innovations in next-generation sequencing (NGS) have users spoiled for choice. At first, new options began trickling in. But then the floodgates opened in 2022. Folding into this market expansion is the growth in the demand for sequencing, not only from directed genomic sequencing, but also from the growth of other omics technologies such as single-cell genomics and spatial transcriptomics, and of clinical applications such as liquid biopsy—all of which rely on sequencing."


Primary Care Provider Receptivity to Multi-Cancer Early Detection Test Use in Cancer Screening
CV Chambers et al, JPM, November 2023 (Posted: Nov 30, 2023 9AM)

From the abstract: "Multi-cancer early detection tests (MCEDs) are blood-based tests that detect biomarkers released or induced by cancer cells. If MCED tests are shown to be safe and effective in cancer screening, they are likely to be ordered and managed in primary care. To understand primary care providers’ support for and concerns about the implementation and management of MCED testing, the research team developed a cross-sectional survey that was sent to 939 primary care providers (physicians, residents/fellows, and advanced practice providers) in a large academic health system. "


Applications of Liquid Biopsy for Surgical Patients With Cancer: A Review.
Kelly M Mahuron et al. JAMA Surg 2023 11 (Posted: Nov 01, 2023 1PM)

From the abstract: "Liquid biopsy analytes such as circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) have been the most clinically studied assays and were initially limited to advanced-stage disease. In the metastatic setting, CTCs and ctDNA levels are prognostic. Although their levels correlate with treatment response, CTC-guided systemic regimen switches for nonresponders have not been shown to improve clinical outcomes. ctDNA genomic profiling has succeeded, and there are now multiple plasma-based assays approved by the US Food and Drug Administration that can detect actionable mutations to guide systemic therapy. "


Liquid biopsy epigenomic profiling for cancer subtyping.
Sylvan C Baca et al. Nat Med 2023 10 (Posted: Oct 23, 2023 8AM)

From the abstract: " Although circulating tumor DNA (ctDNA) assays are increasingly used to inform clinical decisions in cancer care, they have limited ability to identify the transcriptional programs that govern cancer phenotypes and their dynamic changes during the course of disease. To address these limitations, we developed a method for comprehensive epigenomic profiling of cancer from 1?ml of patient plasma. Using an immunoprecipitation-based approach targeting histone modifications and DNA methylation, we measured 1,268 epigenomic profiles in plasma from 433 individuals with one of 15 cancers. "


Circulating Tumor HPV DNA for Surveillance of HPV-Positive Oropharyngeal Squamous Cell Carcinoma: A Narrative Review.
Krystle A Lang Kuhs et al. JAMA Oncol 2023 10 (Posted: Oct 13, 2023 1PM)

From the abstract: "This article reviews the current state of knowledge, highlights existing knowledge gaps, and suggests research that should be prioritized to understand the association between biomarker-based surveillance and patient outcomes. Specific attention is paid to the commercially available tumor tissue–modified viral HPV DNA assay, given its increasing clinical use. This review may serve as a road map for future research and a guide for clinicians considering its adoption in practice. Enrollment of patients into clinical trials incorporating biomarker-based surveillance should be prioritized. "


“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening
EA Wauran et al, EJHG, October 11, 2023 (Posted: Oct 12, 2023 9AM)

From the abstract: "Thirty HCS patients were interviewed (n?=?19 women, age range 20s-70s, n?=?25 were white). Participants were highly concerned about developing cancers, particularly those without reliable screening options for early detection. They “just wanted more” than their current screening strategies. Participants were enthusiastic about ctDNA’s potential to be comprehensive (detect multiple cancers), predictive (detect cancers early) and tailored (lead to personalized clinical management). Participants also acknowledged ctDNA’s potential limitations, including false positives/negatives risks and experiencing additional anxiety. "


Blood-based tests for multicancer early detection (PATHFINDER): a prospective cohort study
D Shrag et al. The Lancet, October 7, 2023 (Posted: Oct 06, 2023 7AM)

From the abstract: "Multicancer early detection (MCED) blood tests can detect a cancer signal from circulating cell-free DNA (cfDNA). PATHFINDER was a prospective cohort study investigating the feasibility of MCED testing for cancer screening. In this prospective cohort study done in oncology and primary care outpatient clinics at seven US health networks, a convenience sample of adults aged 50 years or older without signs or symptoms of cancer consented to MCED testing. The study supports the feasibility of MCED screening for cancer and underscores the need for further research investigating the test's clinical utility. "


Targeted single-cell proteomic analysis identifies new liquid biopsy biomarkers associated with multiple myeloma
SM Setayesh et al, NPJ Prec Oncol September 18, 2023 (Posted: Sep 18, 2023 11AM)

From the abstract: "We analyzed ~87,000 cells from seven patient samples (bone marrow and peripheral blood) across the myeloma disease spectrum and utilized our multiplexed panel to characterize the expression of clinical markers for PC classification, additional potential therapeutic targets, and the tumor microenvironment cells. Our analysis showed BCMA, ICAM3 (CD50), CD221, and CS1 (SLAMF7) as the most abundantly expressed markers on PCs across all myeloma stages, with BCMA, ICAM3, and CD221 having significantly higher expression levels on disease versus precursor PCs. "


Assessing the Clinical Utility of Liquid Biopsies Across 5 Potential Indications From Therapy Selection to Population Screening: A Review.
David J Carr et al. JAMA Intern Med 2023 8 (Posted: Aug 29, 2023 11AM)

From the abstract: "Circulating tumor DNA tests are being promoted for multiple indications. Numerous studies are ongoing, but randomized clinical trials of their effect on patient-centered outcomes are rare. While these tests have the potential to improve care in selected indications, this must be proven, as they will add cost, complexity, and unintended adverse effects for patients."


Genome-wide mutation profiles from cell-free DNA for early cancer detection
Nature Genetics, July 31, 2023 (Posted: Aug 01, 2023 9AM)

Through whole-genome sequencing of single molecules of circulating cell-free DNA, we found that tumor-derived mutations in cancer genomes are associated with regions of late replication timing and other chromatin features. These genome-wide analyses identified altered regional mutation profiles in people with cancer that distinguished them from people without cancer and reflected tumor burden during therapy.


Practical recommendations for using ctDNA in clinical decision making.
Stacey A Cohen et al. Nature 2023 7 (7969) 259-268 (Posted: Jul 14, 2023 1PM)

Early detection of recurrence using blood-based biomarkers such as circulating tumor DNA (ctDNA) is being increasingly used in clinical practice. Here we provide general recommendations on the clinical utility of ctDNA and how to interpret ctDNA analysis in different treatment settings, especially in patients with solid tumors. Specifically, we provide an understanding around the implications, strengths and limitations of this novel biomarker and how to best apply the results in clinical practice.


Performance of Liquid Biopsy for Diagnosis and Surveillance of Human Papillomavirus-Associated Oropharyngeal Cancer.
Rocco M Ferrandino et al. JAMA Otolaryngol Head Neck Surg 2023 7 (Posted: Jul 10, 2023 11AM)

What is the accuracy of tumor tissue–modified human papillomavirus DNA (TTMV-HPV DNA) liquid biopsy in the diagnosis and surveillance of HPV-associated oropharyngeal squamous cell carcinoma (OPSCC)? In this cohort study of 399 patients in a contemporary clinical setting, TTMV-HPV DNA testing at the time of OPSCC diagnosis demonstrated excellent sensitivity and specificity of 91.5% and 100%, respectively. With respect to surveillance, the TTMV-HPV DNA test had a sensitivity of 88.4% and specificity of 100% for detecting a recurrence.


Fragmentomics - the future of cfDNA testing?
H Wilson, PHG Foundation, July 4, 2023 (Posted: Jul 07, 2023 10AM)

Cells die, mainly as part of routine biochemical processes or sometimes due to disease. When a cell dies it releases nucleic acids – including DNA – into the bloodstream. This happens with all cells including tumours. The cell free DNA fragments from tumours carry genetic differences compared to normal tissues. Analysing these differences is providing information which ultimately can be used to improve diagnostics and treatment planning in multiple diseases.


Private Payer and Medicare Coverage Policies for Use of Circulating Tumor DNA Tests in Cancer Diagnostics and Treatment.
Michael P Douglas et al. J Natl Compr Canc Netw 2023 6 (6) 609-616.e4 (Posted: Jun 14, 2023 9AM)

71 of 1,066 total policies met study inclusion criteria, of which 57 were private policies and 14 were Medicare LCDs; 70% of private policies and 100% of Medicare LCDs covered at least one indication. Among 57 private policies, 89% specified a policy with coverage for ctDNA for initial treatment selection most common (69%). Of 40 policies addressing progression, coverage was provided 28% of the time, and of 20 policies addressing MRD, coverage was provided 65% of the time. Non-small cell lung cancer was the cancer type most frequently covered for initial treatment (47%) and progression (60%).


Circulating tumour cells for early detection of clinically relevant cancer.
Rachel Lawrence et al. Nat Rev Clin Oncol 2023 6 1-14 (Posted: Jun 11, 2023 8AM)

Metastases are usually formed from cancer cells that spread to distant non-malignant tissues via the blood circulation, termed circulating tumour cells (CTCs). CTCs have been detected in patients with early stage cancers and, owing to their association with metastasis, might indicate the presence of aggressive disease, thus providing a possible means to expedite diagnosis and treatment initiation for such patients while avoiding overdiagnosis and overtreatment of those with slow-growing, indolent tumours. The utility of CTCs as an early diagnostic tool has been investigated, although further improvements in the efficiency of CTC detection are required.


Potential utility of risk stratification for multicancer screening with liquid biopsy tests
ES Kim et al, NPJ Precision Oncology, April 22, 2023 (Posted: Apr 23, 2023 0PM)

We develop and validate sex-specific pan-cancer risk scores (PCRSs), defined by the combination of body mass index, smoking, family history of cancers, and cancer-specific polygenic risk scores (PRSs), to predict the absolute risk of developing at least one of the many common cancer types. We demonstrate the added value of PRSs in improving the predictive performance of the risk factors only model and project the positive and negative predictive values for two promising multicancer screening tests across risk strata defined by age and PCRS.


Early Detection of Molecular Residual Disease and Risk Stratification for Stage I to III Colorectal Cancer via Circulating Tumor DNA Methylation.
Shaobo Mo et al. JAMA Oncol (Posted: Apr 21, 2023 6AM)

Are longitudinal changes in circulating tumor DNA (ctDNA) methylation effective in monitoring disease progression from molecular residual disease to recurrence? In this cohort study of 299 patients with colorectal cancer, circulating tumor DNA status was evaluated with 6 DNA methylation markers. The presence of ctDNA was strongly associated with recurrence before and after surgery, after adjuvant chemotherapy, and during longitudinal monitoring.


Liquid Biopsy Assessment of Molecular Residual Disease in Localized Colorectal Cancer: Is It Ready for Prime Time?
Juan Ruiz-Bañobre et al. JAMA Oncol (Posted: Apr 21, 2023 6AM)

Over the last few years, the potential of liquid biopsy, specifically the detection of circulating tumor DNA (ctDNA) in blood from patients with advanced and localized tumors, has emerged as a promising strategy to assist in the clinical management of patients with cancer. In the advanced setting, ctDNA is already validated and used in routine clinical practice to identify clinically actionable genomic alterations. In the localized setting, different observational studies involving patients with solid tumors have confirmed a very high risk of recurrence when ctDNA is detected after therapy with curative intent, introducing the concept of molecular residual disease in managing solid tumors.


Utilization of Circulating Tumor Cells in the Management of Solid Tumors
PC Kumiali et al, J Per Med, April 20., 2023 (Posted: Apr 20, 2023 10AM)

CTCs may play significant roles in cancer screening, diagnosis, treatment navigation, including prognostication and precision medicine, and surveillance. In cancer screening, capturing and evaluating CTCs from peripheral blood could be a strategy to detect cancer at its earliest stage. Cancer diagnosis using liquid biopsy could also have tremendous benefits. Full utilization of CTCs in the clinical management of malignancies may be feasible in the near future; however, several challenges still exist.


High-resolution circulating tumor DNA testing predicts survival in metastatic lung cancer clinical trials.
et al. Nat Med 2023 4 (Posted: Apr 15, 2023 8AM)

Data from circulating tumor DNA (ctDNA) testing were generated for over 1,900 samples across at least 3 time points in a phase 3 clinical trial and used to build a machine learning model to predict patient survival. The model accurately identified patients with a high risk of disease recurrence and could provide a basis for assigning therapies in phase 1/2 clinical trials.


Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.
Christopher Abbosh et al. Nature 2023 4 (Posted: Apr 14, 2023 7AM)

Landmark analyses of plasma samples collected within 120?days after surgery revealed ctDNA detection in 25% of patients, including 49% of all patients who experienced clinical relapse; 3 to 6 monthly ctDNA surveillance identified impending disease relapse in an additional 20% of landmark-negative patients. We developed a bioinformatic tool (ECLIPSE) for non-invasive tracking of subclonal architecture at low ctDNA levels. ECLIPSE identified patients with polyclonal metastatic dissemination, which was associated with a poor clinical outcome.


Circulating tumor DNA reveals complex biological features with clinical relevance in metastatic breast cancer.
Aleix Prat et al. Nature communications 2023 3 (1) 1157 (Posted: Mar 02, 2023 9AM)


Combined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors
E Chistodoulou et al, NPJ Precision Oncology, February 20, 2023 (Posted: Feb 20, 2023 8AM)

We designed a liquid biopsy (LB) platform employing low-pass whole genome sequencing (LP-WGS) and targeted sequencing of cell-free (cf) DNA from plasma to detect genome-wide copy number alterations (CNAs) and gene fusions in pediatric solid tumors. A total of 143 plasma samples were analyzed from 19 controls and 73 patients, including 44 bone or soft-tissue sarcomas and 12 renal, 10 germ cell, five hepatic, and two thyroid tumors. cfDNA was isolated from plasma collected at diagnosis, during and after therapy, and/or at relapse.


Liquid Biopsy for Oral Cancer Diagnosis: Recent Advances and Challenges
Y Naito et al, J Per Med, February 8, 2023 (Posted: Feb 09, 2023 6AM)

Over the past two decades, liquid biopsy has been considered an attractive diagnostic tool for malignant tumors. Although biomarkers for oral cancer have not yet been adopted in clinical practice, many molecular candidates have been investigated for liquid biopsies in oral cancer diagnosis, such as the proteome, metabolome, microRNAome, extracellular vesicles, cell-free DNAs, and circulating tumor cells. This review will present recent advances and challenges in liquid biopsy for oral cancer diagnosis.


Postoperative circulating tumor DNA could guide CRC adjuvant treatment.
et al. Nature medicine 2023 1 (Posted: Jan 17, 2023 9AM)

Our findings signify a paradigm shift in how we manage patients with CRC after surgery. The GALAXY interim findings show that ctDNA positivity at 4 weeks after surgery is a strong prognostic marker that identifies a group of patients at high risk of both CRC recurrence and decreased DFS. This suggests that ctDNA status might have value as a surrogate end point or marker of treatment efficacy in clinical trials, which has the potential to considerably reduce trial duration and expedite the approval of new therapies in the future.


Molecular residual disease and efficacy of adjuvant chemotherapy in patients with colorectal cancer.
Kotani Daisuke et al. Nature medicine 2023 1 (Posted: Jan 17, 2023 9AM)

We report results from GALAXY, which is an observational arm of the ongoing CIRCULATE-Japan study (UMIN000039205) that analyzed presurgical and postsurgical ctDNA in patients with stage II–IV resectable CRC (n?=?1,039). In this cohort, with a median follow-up of 16.74 months (range 0.49–24.83 months), postsurgical ctDNA positivity (at 4?weeks after surgery) was associated with higher recurrence risk (hazard ratio (HR) 10.0, P?<?0.0001) and was the most significant prognostic factor associated with recurrence risk in patients with stage II or III CRC (HR 10.82, P?<?0.001).


The Use of Cell-free DNA in Clinical Practice: Work in Progress
M Clyne et al, CDC Blog Post, December 14, 2022 Brand (Posted: Dec 14, 2022 5PM)

Since its discovery in 1948, the utility of cfDNA has been studied extensively in screening, diagnosis, prognosis, therapy and monitoring disease progression. Although effort has focused on cancer, and mostly in NSCLC, other areas of research are ongoing, including autoimmune disease, metabolic disorders, Alzheimer’s disease, and other neurologic conditions, COVID-19, myocarditis and dilated cardiomyopathy, and refractory epilepsy. In addition to circulating cfDNA, potential clinical applications exist for other omics, including epigenetics and exosomal miRNAs, as well as use of cfDNA in other body fluids (e.g. urine).


Comprehensive pan-cancer genomic landscape of KRAS altered cancers and real-world outcomes in solid tumors.
Lee Jessica K et al. NPJ precision oncology 2022 12 (1) 91 (Posted: Dec 12, 2022 6AM)

We performed a pan-cancer analysis of KRAS-altered samples from 426,706 adult patients with solid or hematologic malignancies using comprehensive genomic profiling; additional analyses included 62,369 liquid biopsy and 7241 pediatric samples. 23% of adult pan-cancer samples had KRAS alterations; 88% were mutations, most commonly G12D/G12V/G12C/G13D/G12R, and prevalence was similar in liquid biopsies.


Factors Likely to Affect the Uptake of Genomic Approaches to Cancer Screening in Primary Care: A Scoping Review
KV Davis et al, J Per Med, December 10, 2022 (Posted: Dec 10, 2022 7AM)

Six articles focused on patient perceptions about testing for a single cancer (colorectal), and 1 reported on patient views related to testing for multiple cancers. Factors favoring this type of testing included its non-invasiveness, and the perceived safety, convenience, and effectiveness of testing. There is a dearth of information in the literature on primary care provider perceptions about liquid biopsy and MCED testing. The limited information on patient perceptions suggests that they are receptive to such tests.


Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows
M Montella et al, J Per Med, November 12, 2022 (Posted: Nov 13, 2022 6AM)

We showed that, when a genetic mutation was detected in pathological examination, this was always detected by liquid biopsy, demonstrating a very high concordance rate of genomic testing between tissues and their corresponding mutations obtained by liquid biopsy, without cases of false-negative results. In addition, in our study, liquid biopsy highlighted 26 mutations, with the prevalence of ALK mutation in 96.6% of patients, supporting the idea that this approach could be an effective tool in cases with insufficient tumor tissue specimens or in cases where tissue specimens are not obtainable.


Circulating tumor DNA as a novel prognostic indicator
A Vivancos et al, Nature Medicine, November 10, 2022 (Posted: Nov 11, 2022 5PM)

Recent years have witnessed the development and clinical implementation of liquid biopsy as an alternative source of tumor-derived DNA when tumor tissue sampling is challenging, or biopsy not recommended. Management of non–small-cell lung cancer (NSCLC) has become the main clinical scenario for the application of liquid biopsy in advanced disease, given the large number of targetable driver alterations (EGFR, ALK, ROS1, BRAF, MET, NTRK and RET) and the often-limited quantity of tumor tissue.


Pitfalls and Rewards of Setting Up a Liquid Biopsy Approach for the Detection of Driver Mutations in Circulating Tumor DNAs: Our Institutional Experience
M Chen et al, J Per Med, November 2022 (Posted: Nov 06, 2022 8AM)


Practical Considerations for the Use of Circulating Tumor DNA in the Treatment of Patients With Cancer: A Narrative Review.
Krebs Matthew G et al. JAMA oncology 2022 10 (Posted: Oct 22, 2022 0PM)

This review presents a practical overview for clinicians and allied health care professionals for selection of the most appropriate liquid biopsy assay, specifically focusing on circulating tumor DNA and how it may affect patient treatment and case management across multiple tumor types. Multiple factors influence the analytical validity, clinical validity, and clinical utility of testing.


Circulating Cell-free DNA and Screening for Trisomies.
Norton Mary E et al. The New England journal of medicine 2022 9 (Posted: Sep 29, 2022 8AM)

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 (Posted: Sep 27, 2022 7AM)

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 (Posted: Sep 12, 2022 1PM)

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.


Clinical Utility of Circulating Tumor Cells for Predicting Major Histopathological Response after Neoadjuvant Chemoradiotherapy in Patients with Esophageal Cancer
X Gao et al, J Per Med, August 31, 2022 (Posted: Sep 01, 2022 2PM)


cfDNA methylome profiling for detection and subtyping of small cell lung cancers.
Chemi Francesca et al. Nature cancer 2022 8 (Posted: Aug 09, 2022 9AM)

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.


Circulating tumour DNA - looking beyond the blood.
Tivey Ann et al. Nature reviews. Clinical oncology 2022 8 (Posted: Aug 09, 2022 7AM)

To date, the majority of research in the area of liquid biopsies has focused on blood-based biomarkers, predominantly using plasma-derived circulating tumour DNA (ctDNA). However, ctDNA can also be obtained from various non-blood sources and these might offer unique advantages over plasma ctDNA. In this Review, we discuss advances in the analysis of ctDNA from non-blood sources, focusing on urine, cerebrospinal fluid, and pleural or peritoneal fluid, but also consider other sources of ctDNA.


Circulating tumor DNA to guide rechallenge with panitumumab in metastatic colorectal cancer: the phase 2 CHRONOS trial.
Sartore-Bianchi Andrea et al. Nature medicine 2022 8 (Posted: Aug 03, 2022 6AM)

The primary endpoint of the trial was met; and, of 27 enrolled patients, eight (30%) achieved partial response and 17 (63%) disease control, including two unconfirmed responses. These clinical results favorably compare with standard third-line treatments and show that interventional liquid biopsies can be effectively and safely exploited in a timely manner to guide anti-EGFR rechallenge therapy with panitumumab in patients with mCRC.


When can we be confident of surgical cure with ctDNA?
Frankell Alexander et al. Nature reviews. Clinical oncology 2022 7 (Posted: Jul 10, 2022 2PM)

Tracking circulating tumour DNA (ctDNA) after surgery holds promise for patient management and therapeutic intervention in non-small-cell lung cancer (NSCLC). A recent study tracks ctDNA from 261 patients with stages I–III NSCLC and suggests that the likelihood of disease relapse decreases for high-risk stage II/III patients after 18 months without ctDNA detection.


Blood-derived lncRNAs as biomarkers for cancer diagnosis: the Good, the Bad and the Beauty
C Badowski et al, NPJ Precision Oncology, June 21, 2022 (Posted: Jun 22, 2022 10AM)

The reported correlation between the presence of tumors and abnormal levels of lncRNAs in the blood of cancer patients has notably triggered a worldwide interest among clinicians and oncologists who have been actively investigating their potentials as reliable cancer biomarkers. In this report, we review the progress achieved (“the Good”) and challenges encountered (“the Bad”) in the development of circulating lncRNAs as potential biomarkers for early cancer diagnosis. We report and discuss the diagnostic performance of more than 50 different circulating lncRNAs and emphasize their numerous potential clinical applications (“the Beauty”) including therapeutic targets and agents, on top of diagnostic and prognostic capabilities.


Liquid Biopsy for Precision Adjuvant Chemotherapy in Colon Cancer.
Montagut Clara et al. The New England journal of medicine 2022 6 (24) 2330-2331 (Posted: Jun 16, 2022 7AM)

Liquid biopsy, the detection of tumor-related DNA in the peripheral blood, is currently the best available technological tool to improve clinical decision making in precision oncology.1 Liquid biopsy currently has enough analytic and clinical validity to be implemented in routine practice for advanced disease genotyping to predict the benefit of targeted drugs. An additional great promise of the measurement of circulating tumor DNA (ctDNA) has been its use for the detection of the so-called minimal residual disease, particularly after surgical therapy to remove primary tumors.


Circulating Tumor DNA Analysis Guiding Adjuvant Therapy in Stage II Colon Cancer.
Tie Jeanne et al. The New England journal of medicine 2022 6 (24) 2261-2272 (Posted: Jun 16, 2022 7AM)

We conducted a trial to assess whether a ctDNA-guided approach could reduce the use of adjuvant chemotherapy without compromising recurrence risk. Patients with stage II colon cancer were randomly assigned in a 2:1 ratio to have treatment decisions guided by either ctDNA results or standard clinicopathological features. We found that a ctDNA-guided approach to the treatment of stage II colon cancer reduced adjuvant chemotherapy use without compromising recurrence-free survival.


Blood Tests That Detect Cancers Create Risks for Those Who Use Them
G Kolata, NY Times, June 10, 2022 (Posted: Jun 12, 2022 8AM)

The tests screen for cancers that often go undetected, but they are expensive and some experts worry they could lead to unnecessary treatments without saving patients’ lives. The tests, which look for minuscule shards of cancer DNA or proteins, are a new frontier in screening. Companies developing them say they can find dozens of cancers. Paradoxical as it may sound, finding cancers earlier could mean just as many deaths, with the same timing as without early diagnosis. That is because — at least with current treatments — cancers destined to kill are not necessarily cured if found early. And there are other risks. For example, some will have a positive test, but doctors will be unable to locate the cancer. Others will be treated aggressively with surgery or chemotherapy for cancers that, if left alone, would not have grown and spread and may even have gone away.


A turning point in cancer A cluster of "un-heard of" results in multiple subtypes of advanced cancer
E Topol, Ground Truths, June 10, 2022 (Posted: Jun 11, 2022 1PM)

The narrative has been incubating for many years, but in recent days we are witnessing some extraordinary progress in treating and monitoring cancer. The convergence of genomics of the cancer—be it from the person’s DNA or tumor directly or the blood (known as liquid biopsy)—matched with the appropriate therapy is leading to outcomes that are being described as “unheard-of” by expert oncologists. This represents the essence of individualized medicine, whereby understanding the unique biologic basis of a person’s cancer can lead to highly accurate and effective treatment, and also avoid the toxicity of classical chemotherapeutic agents. Here I will review 4 recent studies, all published in the last week, and a new screening test that has become available.


Can cancer blood tests live up to promise of saving lives?
CK Johnson, AP News, April 11, 2022 (Posted: Apr 11, 2022 2PM)

With advances in DNA sequencing and data science making the blood tests possible, California-based Grail and other companies are racing to commercialize them. And U.S. government researchers are planning a large experiment — possibly lasting seven years and with 200,000 participants — to see if the blood tests can live up to the promise of catching more cancers earlier and saving lives. “They sound wonderful, but we don’t have enough information,” said Dr. Lori Minasian of the National Cancer Institute, who is involved in planning the research. “We don’t have definitive data that shows that they will reduce the risk of dying from cancer.”


Obstacles to Covering Precision Medicine Multicancer Screenings- Multicancer screening tests are a form of precision medicine that may reduce low value spending, but payers face a number of challenges in deciding whether to cover them.
K Wadill, Health Payer Intelligence, March 2022 (Posted: Mar 30, 2022 6AM)

Researchers are still gathering data on the efficacy of multicancer screening tests. If these precision medicine tools prove useful, new coverage methods will be required. They examined the payer considerations for multicancer early detection screening coverage in preparation for that potentiality. In order for payers to responsibly decide whether or not to provide coverage for multicancer early detection screening tests, five key issues need to be considered.


Emerging precision diagnostics in advanced cutaneous squamous cell carcinoma
G Geidel et al, NPJ Genomic Medicine, March 23, 2022 (Posted: Mar 25, 2022 7AM)

Advanced cutaneous squamous cell carcinoma (cSCC) encompasses unresectable and metastatic disease. Although immune checkpoint inhibition has been approved for this entity recently, a considerable proportion of cases is associated with significant morbidity and mortality. Clinical, histopathological, and radiological criteria are used for current diagnostics, classification, and therapeutic decision-making. This article highlights new insights into the mutational profile of cSCC, summarizes current diagnostic and therapeutic standards, and discusses emerging diagnostic approaches with emphasis on liquid biopsy and tumor tissue-based analyses.


Multi-Cancer Early Detection (MCED)
NCI, 2022 Brand (Posted: Mar 22, 2022 6AM)

An emerging paradigm shift appears to be underway to screen for multiple cancers simultaneously with a single MCED test. However, using an MCED test poses many uncertainties, including questions as to what additional diagnostic workup is necessary and feasible following a positive test to confirm the presence of a cancer; what types of cancers are detected by an MCED test and at what stages; what patient populations will derive a net benefit from MCED screening; and whether MCED tests can be successfully implemented in real-world practice. This webpage is a gateway to DCP efforts surrounding study of MCED assays for cancer screening.


Multicancer Screening Tests: Anticipating And Addressing Considerations For Payer Coverage And Patient Access
PA Deverka et al, Health Affairs, March 2022 (Posted: Mar 08, 2022 8AM)

There is a tremendous public health need to identify potentially lethal cancers at earlier stages, when there is a greater chance for improved survival. Although in the US there are currently screening recommendations for only five cancers (breast, colorectal, cervical, lung, and prostate), new tests can screen for up to fifty cancers simultaneously based on a simple blood draw. However, these multicancer screening tests (also called “liquid biopsy” tests) will also present challenges to payers because of intrinsic features of the tests and the complexity of payer coverage assessments for screening tests. We describe these considerations while also offering potential solutions that can inform payers’ decision making if these tests prove to be beneficial.


Accurate detection of circulating tumor DNA using nanopore consensus sequencing
A Marcozzi et al, NPJ Genomic Medicine, December 2021 (Posted: Dec 12, 2021 9AM)

Levels of circulating tumor DNA (ctDNA) in liquid biopsies may serve as a sensitive biomarker for real-time, minimally-invasive tumor diagnostics and monitoring. However, detecting ctDNA is challenging, as much fewer than 5% of the cell-free DNA in the blood typically originates from the tumor. We demonstrate that a TP53-specific CyclomicsSeq assay can be successfully used to monitor tumor burden during treatment for head-and-neck cancer patients. CyclomicsSeq can be applied to any genomic locus and offers an accurate diagnostic liquid biopsy approach that can be implemented in clinical workflows


Circulating tumor DNA-guided treatment with pertuzumab plus trastuzumab for HER2-amplified metastatic colorectal cancer: a phase 2 trial
Y Nakamura et al, Nature Medicine, November 11, 2021 (Posted: Nov 11, 2021 0PM)


ctDNA: An emerging neoadjuvant biomarker in resectable solid tumors.
Abbosh Christopher et al. PLoS medicine 2021 10 (10) e1003771 (Posted: Oct 18, 2021 6AM)

Findings from recent studies add to an emerging literature highlighting a need to explore the translational potential for ctDNA assessment as a response biomarker in the neoadjuvant setting. These data are particularly relevant in LARC and MIBC where treatment response biomarkers that are not reliant on pathological examination of resection specimens are required to guide non-operative management decisions.


Utility of ctDNA in predicting response to neoadjuvant chemoradiotherapy and prognosis assessment in locally advanced rectal cancer: A prospective cohort study.
Wang Yaqi et al. PLoS medicine 2021 9 (8) e1003741 (Posted: Sep 02, 2021 8AM)

We conducted a prospective cohort study including 119 LARC patients undergoing nCRT followed by total mesorectal excision (TME). We collected 531 serial plasma samples at baseline, during nCRT, and after surgery and performed next-generation sequencing using a panel containing 422 cancer-related genes. We found that baseline ctDNA features, as well as the clearance of ctDNA during nCRT, were significantly correlated with pCR status. By establishing predictive models based on ctDNA alone, MRI alone, and combination of ctDNA and MRI, we found that the performance of the combining model in predicting pCR/non-pCR was significantly better than ctDNA alone or MRI alone.


Assessment of the Diagnostic Efficiency of a Liquid Biopsy Assay for Early Detection of Gastric Cancer
D Izumi, JAMA Network Open, August 24, 2021 (Posted: Aug 25, 2021 8AM)

his diagnostic study used a multistep and comprehensive biomarker discovery approach to establish a novel, noninvasive, microRNA-based signature for the early detection of gastric cancer, which was retrospectively and prospectively validated in multicenter patient cohorts.


Detection of Leptomeningeal Disease Using Cell-Free DNA From Cerebrospinal Fluid
MD White et al, JAMA Network Open, August 9, 2021 (Posted: Aug 10, 2021 10AM)


Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA
JD Finkle et al, NPJ Precision Oncology, July 2021 (Posted: Jul 05, 2021 7AM)

Liquid biopsy is a valuable precision oncology tool that is increasingly used as a non-invasive approach to identify biomarkers, detect resistance mutations, monitor disease burden, and identify early recurrence. The Tempus xF liquid biopsy assay is a 105-gene, hybrid-capture, next-generation sequencing (NGS) assay that detects single-nucleotide variants, insertions/deletions, copy number variants, and chromosomal rearrangements.


Molecular cancer screening: in search of evidence
S Raoof et al, Nature Medicine, July 2, 2021 (Posted: Jul 03, 2021 7AM)

Cancer screening with germline genetic sequencing and liquid biopsy could facilitate early cancer detection. But testing if these technologies reduce the burden of cancer mortality will require rethinking how clinical trials are run.


A DNA methylation-based liquid biopsy for triple-negative breast cancer
K Cristal et al, NPJ Precision Oncology, June 16, 2021 (Posted: Jun 19, 2021 7AM)

Based on a multiplexed targeted sequencing approach, this assay included 53 amplicons from 47 regions. Analysis of a previously characterized cohort of women with metastatic TNBC with limited quantities of plasma (<2?ml) produced an AUC of 0.92 for detection of a tumor with a sensitivity of 76% for a specificity of 100%.


Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients
J Espejo et al, Genome Medicine, May 18, 2021 (Posted: May 18, 2021 8AM)


Integrative statistical analyses of multiple liquid biopsy analytes in metastatic breast cancer
C Keup et al, Genome Medicine, May 17, 2021 (Posted: May 18, 2021 8AM)


Applications of liquid biopsy in the Pharmacological Audit Trail for anticancer drug development.
Pal Abhijit et al. Nature reviews. Clinical oncology 2021 3 (Posted: Mar 29, 2021 6AM)

Blood-based 'liquid biopsy' approaches, such as targeted or whole-genome sequencing studies of plasma circulating cell-free tumor DNA (ctDNA) and circulating tumor cells (CTCs), are of increasing relevance to this drug development paradigm. Liquid biopsy assays can provide quantitative and qualitative data on prognostic, predictive, pharmacodynamic and clinical response biomarkers, and can also enable the characterization of disease evolution and resistance mechanisms.


BRAF-mutant ctDNA predicts outcomes.
Sidaway Peter et al. Nature reviews. Clinical oncology 2021 3 (Posted: Mar 04, 2021 7AM)

Circulating tumor DNA (ctDNA) has the potential to improve patient management in a range of disease settings; however, data from large cohorts of patients are currently limited. Now, an analysis of samples from two clinical trials provides further evidence that BRAF mutations present in ctDNA can be used to predict clinical outcome.


Where next for ctDNA liquid biopsy
J Janus, PHG Foundation Blog, February 17, 2021 (Posted: Feb 22, 2021 8AM)

Circulating tumor DNA (ctDNA) testing, also known as liquid biopsy, hit the headlines in 2020 with the announcement that GRAIL’s test that aims to detect cancer early – will be trialled in the NHS. The trial will evaluate whether ctDNA testing can detect more cancers earlier in patients, and whether this can improve the success of treatments.


“Liquid biopsy” for cancer screening
SH Bradley et al, BMJ, January 4, 2021 (Posted: Jan 06, 2021 8AM)

Liquid biopsy offers the hope of diagnosing cancer earlier and improving survival. But ensuring that the benefits outweigh potential harms requires the tried and tested methods of clinical trials. In coming months, greater clarity will be required on exactly how this promising technology will be evaluated.


Cancer “Liquid Biopsy” Blood Test Gets Expanded FDA Approval
NCI, November 30, 2020 Brand (Posted: Dec 02, 2020 6AM)

The Food and Drug Administration (FDA) has expanded the approved uses for a blood test, known as a liquid biopsy, that can help doctors pick the best treatments for some people with cancer. The test identifies cancer-related genetic changes in DNA from tumor cells that have been released into the blood.


Liquid biopsy versus tumor biopsy for clinical-trial recruitment
RB Corcoran, Nature Medicine, November 23, 2020 (Posted: Nov 24, 2020 8AM)

Liquid biopsy has become a transformative diagnostic tool in clinical oncology. It has already entered clinical practice as an alternative means of molecular profiling of tumors, and it is showing promise in several other important emerging cancer applications, including detection of post-surgical minimal residual disease for prediction of recurrence, monitoring of response to treatment, and early detection of cancer.


Translating noninvasive molecular responses into clinical reality for cancer immunotherapy
JC Murray et al, Nature Reviews Clin Oncology November 9, 2020 (Posted: Nov 09, 2020 11AM)

Noninvasive liquid biopsy assays integrating tumor and immune biomarkers are a promising tool to enhance clinical decision-making in immuno-oncology. Here, we discuss how circulating tumor DNA dynamics, in conjunction with pre-treatment tumor and immune features, can predict clinical response to immune-checkpoint inhibitors alongside the challenges in making their use a clinical reality.


FDA Approves Blood Tests That Can Help Guide Cancer Treatment
NCI, October 16, 2020 Brand (Posted: Oct 16, 2020 1PM)

The Food and Drug Administration (FDA) has approved two blood tests, known as liquid biopsies, that can help guide treatment decisions for people with cancer. The tests were approved for people with any solid cancer (e.g., lung, prostate), but not for those with blood cancers,.


Personalized circulating tumor DNA analysis as a predictive biomarker in solid tumor patients treated with pembrolizumab
SV Bratman et al, Nature Cancer, August 2020 (Posted: Aug 04, 2020 9AM)

Immune checkpoint blockade (ICB) provides clinical benefit to a subset of patients with cancer. However, existing biomarkers do not reliably predict treatment response across diverse cancer types. Limited data exist to show how serial circulating tumor DNA (ctDNA) testing may perform as a predictive biomarker in patients receiving ICB


Methylation extends the reach of liquid biopsy in cancer detection
W Li et al, Nat Rev Clin Oncol, July 31, 2020 (Posted: Aug 03, 2020 9AM)

Measuring the methylation status of cell-free DNA (cfDNA) in plasma holds great potential for the early, noninvasive detection of cancer. Two recent papers published in Nature Medicine showcase the successful application of cfDNA methylation-based cancer detection to two highly challenging scenarios.


ctDNA applications and integration in colorectal cancer: an NCI Colon and Rectal–Anal Task Forces whitepaper
A Dasari et al, Nature Rev Clin Oncol, July 6, 2020 (Posted: Jul 07, 2020 10AM)

The panel focused on four key areas in which ctDNA has the potential to change clinical practice, including the detection of minimal residual disease, the management of patients with rectal cancer, monitoring responses to therapy, and tracking clonal dynamics in response to targeted therapies and other systemic treatments.


Combining liquid biopsies and PET-CT for early cancer detection
SQ Wong et al, Nature Medicine, June 29, 2020 (Posted: Jul 01, 2020 8AM)

The use of screening in some cancers (such as PSA testing in prostate cancer and mammography in breast cancer) may have minimal impact on mortality, and over-diagnosis may lead to more harm than good. This uncertainty also exists for liquid-biopsy approaches and raises the need to demonstrate the clinical value of the blood test before it can be widely adopted.


Could tracking RNA in body fluids reveal disease?
E Dolgin, Nature Outlook, June 17, 2020 (Posted: Jun 22, 2020 9AM)

Tests that detect extracellular RNA to spot cancer, heart disease and other conditions are in development. However, heterogeneity of the RNA repertoire can make it difficult to discern clinically useful biomarkers amid the background molecular noise.


Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring
A Zviran et al, Nature Medicine, June 1, 2020 (Posted: Jun 02, 2020 7AM)


Liquid biopsy for early stage lung cancer moves ever closer
C Rolfo et al, Nat Rev Clin Oncol, May 26, 2020 (Posted: May 27, 2020 9AM)

Lung cancer screening is currently based only on low-dose CT scans; however, novel, more accessible methods that might improve uptake and adherence are eagerly awaited. New liquid biopsy approaches promise to revolutionize cancer screening. Herein, we discuss the opportunities and challenges associated with two such novel assays.


Cancer DNA blood test gets real-world trial
K Kaiser, Science, May 1, 2020 (Posted: May 01, 2020 10AM)

Detecting many kinds of cancers early, with a simple blood test for DNA shed by tumor cells, often called liquid biopsies, is stepping out of the lab. A pioneering real-world study confirms some of their promise—and highlights a potential drawback that may soon confront physicians, and the public: a small but not insignificant number of false detections.


Circulating Tumor DNA Testing—Liquid Biopsy of a Cancer
KS Shohdy et al, JAMA Oncology, March 26, 2020 (Posted: Mar 27, 2020 8AM)

Along with its role in testing for variations at the time of initial cancer diagnosis, blood-based ctDNA testing opens the door to other potential uses. These could include: screening and early detection of a primary cancer or recurrence, assessment of the effectiveness of cancer treatment, and identification of treatment-resistant genetic variations.


Evaluating the Use of Circulating MicroRNA Profiles for Lung Cancer Detection in Symptomatic Patients
T Fehlmann et al, JAMA Oncology, March 5, 2020 (Posted: Mar 06, 2020 8AM)

This cohort study used genome-wide microRNA profiles from the blood samples of 3046 individuals to identify patients with lung cancer with 91.4% accuracy, 82.8% sensitivity, and 93.5% specificity. Meaning The findings of this study suggest that circulating microRNAs may be used in a liquid biopsy to complement imaging tests, sputum cytology, and biopsies


Tumor mutations are not alone in the plasma
K Naxoreva, Sci Trans Med, December 11, 2019 (Posted: Dec 12, 2019 8AM)

Analysis of cfDNA is challenging, as mutations occur at very low frequencies and can be difficult to interpret in the absence of matched tumor DNA. Now, a new study adds to these worries by showing that most cfDNA mutations detected in cancer patients originate in white blood cell clones and not in the tumor.


Circulating Tumor DNA Analyses as Markers of Recurrence Risk and Benefit of Adjuvant Therapy for Stage III Colon Cancer
J Tie et al, JAMA Oncology, October 17, 2019 (Posted: Oct 18, 2019 8AM)

Postsurgical and post chemotherapy circulating tumor DNA analyses may identify patients at high risk of recurrence despite completing standard adjuvant treatment, presenting a unique opportunity to explore additional therapeutic approaches.


Liquid biopsy: one cell at a time
SB Lim et al, NPJ Precision Oncology, October 2019 (Posted: Oct 08, 2019 8AM)


Liquid versus tissue biopsy for detecting acquired resistance and tumor heterogeneity in gastrointestinal cancers.
Parikh Aparna R et al. Nature medicine 2019 Sep (9) 1415-1421 (Posted: Sep 11, 2019 9AM)


Applications of liquid biopsies for cancer
A Mattox et al. Sci Trans Med, August 28, 2019 (Posted: Aug 29, 2019 8AM)

Liquid biopsies have the potential to detect, characterize, and monitor cancers earlier than is possible with conventional approaches. To date, there are four clinical scenarios in which liquid biopsies are being evaluated: at initial diagnosis, after surgery, after additional therapy, and screening for cancer.


Detecting Circulating Tumor Cells Through the Skin
J Abbasi, JAMA, August 2019 (Posted: Aug 28, 2019 7AM)

Methods of detecting circulating tumor cells in blood are hampered by poor sensitivity, which limits the so-called liquid biopsies’ usefulness for catching low-level CTCs present before metastasis. A new photoacoustic liquid biopsy approach that peers through the skin was more sensitive than existing assays in detecting CTCs in patients with melanoma.


Liquid biopsy-based single-cell metabolic phenotyping of lung cancer patients for informative diagnostics
Z Li et al, Nature Comms, August 26, 2019 (Posted: Aug 27, 2019 7AM)


Circulating microbiota-derived metabolites: a "liquid biopsy?
Aragonès Gemma et al. International journal of obesity (2005) 2019 Aug (Posted: Aug 19, 2019 8AM)


Personalized circulating tumor DNA analysis to detect residual disease after neoadjuvant therapy in breast cancer
BR McDonald et al, Science Translational Medicine, August 7, 2019 (Posted: Aug 08, 2019 8AM)

Analysis of tumor DNA shed into a patient’s circulation can provide a noninvasive means of detecting the presence of a tumor and analyzing its DNA for targetable mutations. The study describes a targeted digital sequencing test customized for each patient but can then be used to monitor the patient over time for and allow early detection of tumor recurrence.


Circulating Tumor DNA as a Marker for Disease Relapse in Early-Stage Breast Cancer-Bad Blood.
Karthikeyan Swathi et al. JAMA oncology 2019 Aug (Posted: Aug 02, 2019 8AM)


Assessment of Molecular Relapse Detection in Early-Stage Breast Cancer.
Garcia-Murillas Isaac et al. JAMA oncology 2019 Aug (Posted: Aug 02, 2019 8AM)

This independent, prospective, multicenter, validation study of 101 women early-stage breast cancer assessed circulating tumor DNA mutation tracking and found that detection of circulating tumor DNA during follow-up had a median lead time of 10.7 months compared with clinical relapse, anticipating relapse in all major breast cancer subtypes.


Clinical Applications of Circulating Tumour DNA in Pancreatic Adenocarcinoma.
Loft Matthew et al. Journal of personalized medicine 2019 Jul (3) (Posted: Jul 29, 2019 8AM)

The review focuses on the development of ctDNA as a non-invasive liquid biopsy, with potential clinical applications in pancreatic cancer. These include screening, prognostication via the detection of minimal residual disease, early detection of recurrence, and monitoring treatment response.


Use of Circulating Tumor DNA for Cancer Immunotherapy.
Snyder Alexandra et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 Jul (Posted: Jul 17, 2019 8AM)


Genome-wide cell-free DNA fragmentation in patients with cancer.
Cristiano Stephen et al. Nature 2019 May (Posted: Jun 04, 2019 9AM)


Grail, a deep-pocketed startup, shows ‘impressive,’ if early, results for cancer blood test
M Herper, Stat News, May 31, 2019 (Posted: May 31, 2019 9AM)


Can Circulating Tumor DNA in Early-Stage Colorectal Cancer Be More Than a Prognostic Biomarker?
Morris Van et al. JAMA oncology 2019 May (Posted: May 10, 2019 9AM)


Analysis of Plasma Cell-Free DNA by Ultradeep Sequencing in Patients With Stages I to III Colorectal Cancer.
Reinert Thomas et al. JAMA oncology 2019 May (Posted: May 10, 2019 9AM)


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Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific 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 Clips, 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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