Viktor A Adalsteinsson

Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.

50 publications 2018 – 2026 ORCID

What does Viktor A Adalsteinsson research?

Dr. Adalsteinsson studies early detection methods for specific types of cancers, particularly those linked to HPV, which is known to cause various cancers in the head and neck area. His work includes testing innovative blood tests to identify these cancers at their onset, often before any symptoms occur. Additionally, he is investigating how to track the progress of uveal melanoma—an eye cancer—using blood samples, which could help doctors monitor patients non-invasively, making it easier to manage treatment.

Key findings

  • A new genetic sequencing test for HPV-related head and neck cancer detected 98.7% of cases and had no false alarms, a significant improvement over existing tests.
  • The study on uveal melanoma showed that tumor-derived DNA was detectable in most patients, helping to indicate the progression of the disease.
  • A specific chromosomal change (8q) was identified as a consistent marker in blood samples that could be used to monitor uveal melanoma.

Frequently asked questions

Does Dr. Adalsteinsson study HPV-related cancers?
Yes, he develops blood tests specifically for early detection of HPV-associated head and neck cancers.
What treatments has Dr. Adalsteinsson researched?
His research focuses on non-invasive diagnostic techniques rather than direct treatments.
Is Dr. Adalsteinsson's work relevant to uveal melanoma patients?
Absolutely, he is working on blood tests that help track disease progression in patients with uveal melanoma.

Publications in plain English

Genome-wide extraction of differentially methylated DNA regions using adapter-anchored proximity primers.

2026

Nucleic acids research

Darbeheshti F, Zeggar HR, Salmani H, Liu Y, Thanou E +7 more

Plain English
This study focused on a new method for detecting unusual DNA changes that can indicate cancer. Researchers developed a technique called aMAPP that can identify these changes in tumor samples even when there is a lot of normal DNA mixed in. They found that this method can detect abnormal DNA methylation at very low frequencies—down to 0.01%—making it a powerful tool for cancer diagnosis and monitoring. Who this helps: Patients and doctors looking for sensitive and effective cancer detection methods.

PubMed

Molecular determinants of antibody-mediated priming to enhance detection of ctDNA.

2026

bioRxiv : the preprint server for biology

Tabrizi S, Sullivan C, Chakraborty K, Martin-Alonso C, An Z +12 more

Plain English
This study focused on improving blood tests for cancer detection by increasing the amount of circulating tumor DNA (ctDNA) that can be found in samples. The researchers tested different monoclonal antibodies (mAbs) and discovered that those that strongly bind to double-stranded DNA (dsDNA) effectively raised the ctDNA levels in the blood. Specifically, they found that some engineered antibodies could increase ctDNA concentrations and help better capture important genetic information related to cancer. Who this helps: This benefits patients and doctors by improving cancer diagnosis and monitoring through more effective blood tests.

PubMed

Modulating cell-free DNA biology as the next frontier in liquid biopsies.

2025

Trends in cell biology

Tabrizi S, Martin-Alonso C, Xiong K, Bhatia SN, Adalsteinsson VA +1 more

Plain English
This research focuses on the importance of improving the detection of cell-free DNA (cfDNA) in blood samples for better diagnosing and monitoring diseases, especially cancer. The authors highlight that increasing the amount of valuable cfDNA, like circulating tumor DNA, in samples is essential for making tests more accurate. They argue that understanding how cfDNA behaves in the body is crucial for developing new techniques that could make these tests much more effective, which would significantly improve patient care. Who this helps: This helps patients undergoing cancer treatment and monitoring.

PubMed

Impact of Higher Cell-Free DNA Yields on Liquid Biopsy Testing in Glioblastoma Patients.

2025

Clinical chemistry

Iorgulescu JB, Blewett T, Xiong K, Crnjac A, Liu R +9 more

Plain English
This study looked at how collecting more cell-free DNA (cfDNA) could improve liquid biopsy tests for glioblastoma, a type of brain cancer that doesn’t shed much DNA into the bloodstream. The researchers found that by using larger blood samples—up to 15 times more than usual—they detected circulating tumor DNA (ctDNA) in 88% of glioblastoma patients, which is double the positivity rate compared to smaller samples. This is important because it can help doctors accurately determine if a glioblastoma is actually getting worse or just has an appearance of worsening, which can guide better treatment decisions. Who this helps: This benefits patients with glioblastoma and their doctors.

PubMed

DirectHRD enables sensitive scar-based classification of homologous recombination deficiency.

2025

Nucleic acids research

Liu R, Roberts E, Parsons HA, Stover EH, Choudhury AD +6 more

Plain English
This study focused on a new method called DirectHRD, which helps detect a specific type of cancer-related deficiency known as homologous recombination deficiency (HRD). The researchers found that DirectHRD successfully identified HRD in 100% of tissue samples from 501 cancer patients, showing a high accuracy rate of over 90%. It was also able to detect HRD in blood samples when only 1% of the tumor DNA was present, making it ten times more sensitive than current leading methods. Who this helps: This benefits cancer patients by improving the detection of HRD, which is important for treatment decisions.

PubMed

Chemotherapy and the somatic mutation burden of sperm.

2025

JCI insight

Picciotto S, Arenas-Gallo C, Toren A, Mehrian-Shai R, Daly B +21 more

Plain English
This study looked at how chemotherapy affects DNA mutations in sperm cells. They found that men who had undergone chemotherapy had significantly more mutations in their sperm than men who had not been treated, with one patient showing over a tenfold increase in mutations. This matters because it highlights potential risks for future generations and informs discussions about sperm banking before cancer treatment and the choices cancer survivors face when trying to conceive. Who this helps: This helps cancer patients and survivors considering starting a family.

PubMed

Methyl-CODEC enables simultaneous methylation and duplex sequencing.

2025

Nucleic acids research

Liu R, Darbeheshti F, Walsh L, Li R, Bae JH +5 more

Plain English
This study looked at a new method called Methyl-CODEC that combines two types of DNA analysis: detecting mutations and measuring DNA methylation, which is a chemical change that can affect gene behavior. The researchers found that Methyl-CODEC provides highly accurate results, working closely with existing methods and improving the identification of genetic changes, including rare mutations, especially in cancer-related contexts. This is important because it helps researchers better understand diseases and develop targeted treatments. Who this helps: Patients with cancer and medical researchers.

PubMed

Genome-wide extraction of differentially methylated DNA regions using adapter-anchored proximity primers.

2025

bioRxiv : the preprint server for biology

Darbeheshti F, Zeggar HR, Salmani H, Liu Y, Liu R +2 more

Plain English
This study looked at a new method called aMAPP to identify specific changes in DNA methylation, which can be linked to cancer. The researchers found that aMAPP can accurately detect hundreds of abnormal DNA regions in tumor samples compared to normal tissue, even when there are only tiny amounts of tumor DNA present. This is important because it could make it easier to find cancer biomarkers for diagnosis and monitoring, especially in samples where normal DNA is abundant. Who this helps: This helps patients and doctors in identifying and tracking cancer more effectively.

PubMed

Measurable residual disease detection after CAR-T may predict response in patients with large B-cell lymphoma.

2025

Blood advances

Krasnow N, Maurer K, Song C, Rhoades J, Xiong K +21 more

Plain English
This study looked at how well a new test called MAESTRO can detect leftover cancer DNA in the blood of patients with large B-cell lymphoma after receiving CAR-T cell therapy. Among 28 patients, those who responded well to the treatment showed a significant decrease in this cancer DNA within a week, while those who didn't respond continued to have detectable levels. This matters because finding out early which patients are less likely to benefit from treatment can help doctors make better decisions about their care. Who this helps: This helps doctors and patients by identifying those at risk of treatment failure early on.

PubMed

MEDUSA: Maintaining Entire DNA Duplexes for Utmost Sequencing Accuracy.

2025

bioRxiv : the preprint server for biology

Xiong K, Li R, Li N, Liu R, Narayan A +6 more

Plain English
This study focused on improving the accuracy of DNA sequencing by using a new method called MEDUSA. The researchers found that MEDUSA significantly reduces errors caused by DNA damage during the sequencing process, achieving an error rate that was only 1.23 times higher than expected when minimizing DNA resynthesis, while still covering the entire genome and matching the yield of traditional methods. This improvement is important because more accurate DNA sequencing can lead to better diagnosis and treatment of genetic disorders. Who this helps: This helps patients with genetic conditions and their doctors.

PubMed

Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapes.

2025

bioRxiv : the preprint server for biology

Zhang Y, Viswanadham VV, Andreopoulos M, Glodzik D, Liu R +36 more

Plain English
This study examined six different methods for duplex sequencing, which is used to find mutations in normal tissues. They found that while each method has its unique strengths in how accurately it detects mutations and its cost-effectiveness, they generally agreed on the mutation rates across different tests. This matters because it helps researchers choose the best sequencing methods for accurately analyzing mutations in various tissues, leading to better understanding of diseases like cancer. Who this helps: This benefits researchers and healthcare professionals working on precision medicine and cancer treatment.

PubMed

Immediate postoperative minimal residual disease detection with MAESTRO predicts recurrence and survival in head and neck cancer patients treated with surgery.

2025

medRxiv : the preprint server for health sciences

Sim ES, Rhoades J, Xiong K, Walsh L, Crnjac A +11 more

Plain English
Researchers studied how well a new test called MAESTRO could detect tiny amounts of remaining cancer after surgery in patients with head and neck cancer. They found that in a group of 24 patients, those with detectable tumor DNA in their blood immediately after surgery were more likely to experience cancer recurrence or death. Specifically, 13 out of 15 patients who had an event were found to have minimal residual disease, indicating those at higher risk for poor outcomes. This matters because detecting this residual cancer early can help doctors decide on the best follow-up treatment for patients. Who this helps: Patients with head and neck cancer undergoing surgery.

PubMed

Early Postoperative Minimal Residual Disease Detection with MAESTRO Is Associated with Recurrence and Worse Survival in Patients with Head and Neck Cancer.

2025

Clinical cancer research : an official journal of the American Association for Cancer Research

Sim ES, Rhoades J, Xiong K, Walsh L, Crnjac A +11 more

Plain English
This study looked at a new way to detect leftover cancer cells after surgery in patients with head and neck cancer. It found that among 24 patients, those with detectable levels of cancer DNA in their blood shortly after surgery were more likely to experience cancer recurrence and had worse survival rates; specifically, 92.9% of patients with recurrences had detectable cancer DNA, while only 38.5% of those without recurrences showed the same. This is important because it shows that early detection of minimal residual disease can help doctors make better treatment decisions after surgery, potentially improving patient outcomes. Who this helps: This helps patients with head and neck cancer by guiding their post-surgery treatment.

PubMed

Direct Comparison of Alternative Blood-Based Approaches for Early Detection and Diagnosis of HPV-Associated Head and Neck Cancers.

2025

Clinical cancer research : an official journal of the American Association for Cancer Research

Bryan ME, Aye L, Das D, Hirayama S, Al-Inaya Y +29 more

Plain English
Researchers developed a new blood test using advanced DNA sequencing to detect HPV-associated head and neck cancers early, before symptoms appear, and compared it to three other blood-based detection methods. The new sequencing test detected cancer 98.7% of the time it was present and correctly identified healthy people 98.7% of the time—significantly better than existing blood tests. This breakthrough matters because HPV-related head and neck cancers are becoming more common, yet doctors currently have no way to catch them early when treatment is most effective.

PubMed

MAESTRO-Pool Enables Highly Parallel and Specific Mutation-Enrichment Sequencing for Minimal Residual Disease Detection in Cohort Studies.

2024

Clinical chemistry

Blewett T, Rhoades J, Liu R, Xiong K, Sridhar S +7 more

Plain English
Researchers studied a new method called MAESTRO-Pool, which improves the ability to detect minimal residual disease (MRD) in cancer patients by analyzing certain mutations found in free-floating DNA in the blood. They found that this method could detect MRD at very low levels—down to just 0.78 parts per million—making it 10 to 100 times better than existing methods. This is important because it helps identify cancer that may still be present after treatment, allowing for better monitoring and early intervention. Who this helps: This benefits patients by providing more accurate monitoring for traces of cancer after treatment.

PubMed

Priming agents transiently reduce the clearance of cell-free DNA to improve liquid biopsies.

2024

Science (New York, N.Y.)

Martin-Alonso C, Tabrizi S, Xiong K, Blewett T, Sridhar S +16 more

Plain English
This study looked at ways to improve liquid biopsies, which are tests that detect diseases like cancer using a blood sample. Researchers found that using two special agents before taking a blood sample significantly increased the amount of circulating tumor DNA (ctDNA) detected—from levels previously considered too low for accurate diagnosis—making it easier to spot small tumors. This is important because it can lead to earlier and more accurate cancer detection. Who this helps: Patients with cancer who need early and accurate diagnosis.

PubMed

FinaleMe: Predicting DNA methylation by the fragmentation patterns of plasma cell-free DNA.

2024

bioRxiv : the preprint server for biology

Liu Y, Reed SC, Lo C, Choudhury AD, Parsons HA +12 more

Plain English
This study focused on a new tool called FinaleMe, which predicts DNA methylation patterns in DNA found in blood without needing complicated procedures. The researchers tested it with 80 samples and found that it accurately predicts DNA changes related to cancer and other diseases from simpler blood tests, making it easier to gather important genetic information. This matters because it could help doctors better understand the origins of diseases using less invasive methods. Who this helps: Patients needing less invasive tests for early disease detection.

PubMed

Assay Validation of Cell-Free DNA Shallow Whole-Genome Sequencing to Determine Tumor Fraction in Advanced Cancers.

2024

The Journal of molecular diagnostics : JMD

Rickles-Young M, Tinoco G, Tsuji J, Pollock S, Haynam M +9 more

Plain English
This study tested a new way to measure how much cancer DNA is in a patient's blood, which helps doctors understand how advanced the cancer is. The researchers found that this method can detect as little as 3% of tumor DNA with a very high accuracy of 97.2% to 100%, showing it can reliably work across different lab setups and conditions. This is important because it offers an effective and affordable tool for monitoring cancer without needing a tissue biopsy. Who this helps: This helps patients with advanced cancer and their doctors by providing a less invasive way to track tumor status.

PubMed

FinaleMe: Predicting DNA methylation by the fragmentation patterns of plasma cell-free DNA.

2024

Nature communications

Liu Y, Reed SC, Lo C, Choudhury AD, Parsons HA +12 more

Plain English
This study developed a new tool called FinaleMe that predicts DNA methylation patterns in blood samples without needing complex procedures. By analyzing 80 sets of data, the researchers showed that this method can effectively identify where the DNA in these samples comes from, which is important for understanding various diseases. This streamlined approach could make it easier and cheaper to find important health information from routine blood tests. Who this helps: Patients and doctors can benefit from easier access to important genetic information for diagnosing and monitoring diseases.

PubMed

Comparison of whole-genome and immunoglobulin-based circulating tumor DNA assays in diffuse large B-cell lymphoma.

2024

HemaSphere

Merryman RW, Rhoades J, Xiong K, Redd RA, Antel K +15 more

PubMed

Pyrimidine-Dependent UV-Mediated Cross-Linking Magnifies Minor Genetic or Epigenetic Changes in Clinical Samples.

2024

Clinical chemistry

Yu F, Ahmed F, Smilkou S, Yasmin-Karim S, Darbeheshti F +6 more

Plain English
This study focused on a new method to detect very small genetic changes associated with cancer. By using ultraviolet light, researchers were able to make it easier to identify these tiny mutations, finding the BRAF V600E mutation in 1 out of 9 thyroid cancer samples and in 6 out of 7 samples of circulating DNA from melanoma patients, where traditional methods missed these cases. This is important because it can improve early cancer detection and monitoring, leading to better treatment decisions. Who this helps: Patients with cancer and their doctors.

PubMed

Detection of Copy-Number Variation in Circulating Cell-Free DNA in Patients With Uveal Melanoma.

2024

JCO precision oncology

Sato T, Montazeri K, Gragoudas ES, Lane AM, Aronow MB +10 more

Plain English
Researchers used ultra-sensitive blood DNA sequencing to detect tumor-derived DNA in patients with metastatic uveal melanoma, aiming to find a non-invasive way to monitor disease. Tumor DNA was detectable in most patients, and the amount in the blood correlated with disease status—rising when the disease progressed. A specific chromosomal gain (8q) was consistently detectable and may serve as a useful blood-based biomarker for tracking this cancer.

PubMed

Author Correction: A framework for clinical cancer subtyping from nucleosome profiling of cell-free DNA.

2023

Nature communications

Doebley AL, Ko M, Liao H, Cruikshank AE, Santos K +18 more

PubMed

A nanoparticle priming agent reduces cellular uptake of cell-free DNA and enhances the sensitivity of liquid biopsies.

2023

bioRxiv : the preprint server for biology

Martin-Alonso C, Tabrizi S, Xiong K, Blewett T, Patel S +12 more

Plain English
Researchers studied a new treatment that uses tiny particles to help detect cell-free DNA from tumors in the blood more easily. They found that this treatment can boost the amount of tumor DNA detected by up to 60 times and increase the effectiveness of tests from 0% to 75% when tumors are small. This is important because it means doctors can identify cancer earlier and more accurately, potentially leading to better patient outcomes. Who this helps: Patients with cancer who need early and accurate diagnosis.

PubMed

Circulating tumor DNA association with residual cancer burden after neoadjuvant chemotherapy in triple-negative breast cancer in TBCRC 030.

2023

medRxiv : the preprint server for health sciences

Parsons HA, Blewett T, Chu X, Sridhar S, Santos K +24 more

Plain English
This study focused on the relationship between circulating tumor DNA (ctDNA) and leftover cancer after chemotherapy in patients with triple-negative breast cancer (TNBC). Researchers found that at the start of treatment, all patients had detectable ctDNA, which dropped significantly over the course of therapy—by 285 times for responders and 24 times for non-responders. By the end of treatment, ctDNA clearance was linked to lower cancer burden: nearly all patients with no remaining cancer had cleared their ctDNA, while those with greater residual cancer had not. Who this helps: This benefits patients with TNBC by providing insights into treatment effectiveness and possible future monitoring methods.

PubMed

Single duplex DNA sequencing with CODEC detects mutations with high sensitivity.

2023

Nature genetics

Bae JH, Liu R, Roberts E, Nguyen E, Tabrizi S +20 more

Plain English
This study focused on a new method called CODEC that improves the detection of DNA mutations by accurately reading single strands of DNA. Using CODEC, researchers found mutation rates in sperm from a 39-year-old man and could identify significant mutations in blood cells, tumors, and other samples with much greater accuracy—up to 1,000 times better than traditional methods. This is important because it allows for better genetic testing, helping to uncover important mutations that are often missed. Who this helps: This helps patients and doctors by providing more accurate genetic information for diagnosing diseases.

PubMed

Circulating tumor DNA association with residual cancer burden after neoadjuvant chemotherapy in triple-negative breast cancer in TBCRC 030.

2023

Annals of oncology : official journal of the European Society for Medical Oncology

Parsons HA, Blewett T, Chu X, Sridhar S, Santos K +24 more

Plain English
This study looked at the relationship between circulating tumor DNA (ctDNA) and the amount of cancer remaining after treatment in patients with triple-negative breast cancer (TNBC) who received neoadjuvant chemotherapy. The researchers found that ctDNA levels were very high before treatment but dropped significantly: by 285 times in those who responded to the treatment and by 24 times in those who didn’t. This matters because tracking ctDNA can help doctors understand how well the treatment is working and may guide future treatment choices. Who this helps: Patients with triple-negative breast cancer.

PubMed

Duplex-Repair enables highly accurate sequencing, despite DNA damage.

2022

Nucleic acids research

Xiong K, Shea D, Rhoades J, Blewett T, Liu R +5 more

Plain English
Researchers studied how DNA damage impacts the accuracy of DNA sequencing, finding that existing methods might mistakenly identify false mutations due to the way DNA strands are prepared. They discovered that 7-17% of DNA segments from cell-free samples and 32-57% from tumor samples could incorrectly appear as mutations. Their new method, Duplex-Repair, significantly reduces these inaccuracies, improving sequencing precision by up to 8.9 times. Who this helps: This benefits patients undergoing genetic testing and doctors diagnosing diseases.

PubMed

Liquid biopsy detection of genomic alterations in pediatric brain tumors from cell-free DNA in peripheral blood, CSF, and urine.

2022

Neuro-oncology

Pagès M, Rotem D, Gydush G, Reed S, Rhoades J +16 more

Plain English
This study looked at how well doctors can detect genetic changes in pediatric brain tumors by analyzing DNA found in blood, spinal fluid, and urine instead of needing invasive biopsies. Researchers collected 564 samples from 258 kids and found that only a small percentage showed clear genetic changes: 20% of samples from spinal fluid, 1.3% from blood, and none from urine. This matters because it shows that, while it's possible to find some genetic information using these non-invasive methods, most children with brain tumors have very low levels of detectable tumor DNA, making it difficult to use liquid biopsies for diagnosis or treatment planning. Who this helps: This helps doctors working with children who have brain tumors find less invasive testing options.

PubMed

Implementation of a prostate cancer-specific targeted sequencing panel for credentialing of patient-derived cell lines and genomic characterization of patient samples.

2022

The Prostate

Stover EH, Oh C, Keskula P, Choudhury AD, Tseng YY +18 more

Plain English
This study focused on creating a specific test to identify genetic changes in prostate cancer samples that could help doctors understand the disease better. The researchers developed a targeted sequencing panel that can detect important mutations in 62 key genes associated with prostate cancer, successfully identifying relevant genetic changes in 29 samples taken from patients who underwent surgeries. This matters because it provides a quicker and cheaper way to analyze patient samples, which can lead to better treatment strategies. Who this helps: This benefits patients with prostate cancer and their doctors.

PubMed

Massively parallel enrichment of low-frequency alleles enables duplex sequencing at low depth.

2022

Nature biomedical engineering

Gydush G, Nguyen E, Bae JH, Blewett T, Rhoades J +15 more

Plain English
This study developed a new method called MAESTRO that allows scientists to accurately identify thousands of rare genetic mutations using far fewer resources than before. With MAESTRO, researchers can track up to 10,000 mutations while needing 100 times fewer data points for each mutation. This is important because it enables better monitoring of patients, such as those with breast cancer, for leftover disease after treatment and improves the overall quality of genetic testing. Who this helps: This helps patients with cancer and their doctors by providing more effective ways to monitor and treat the disease.

PubMed

Recent Developments in Mutation Enrichment and Detection Technologies.

2022

Clinical chemistry

Darbeheshti F, Yu F, Ahmed F, Adalsteinsson VA, Makrigiorgos GM

Plain English
This paper looks at new methods for detecting low-level mutations in DNA that are important for diagnosing and treating diseases like cancer, infections, and genetic disorders. Researchers found that by using advanced techniques to minimize the presence of non-mutated DNA, such as the NaME-PrO and UVME methods, they can better identify mutations that may otherwise go unnoticed. This matters because improving our ability to detect these mutations can lead to earlier and more effective treatments for patients. Who this helps: Patients with cancer and other genetic conditions.

PubMed

A framework for clinical cancer subtyping from nucleosome profiling of cell-free DNA.

2022

Nature communications

Doebley AL, Ko M, Liao H, Cruikshank AE, Santos K +18 more

Plain English
This study focused on a new method called Griffin, which analyzes small pieces of DNA found in the blood (cell-free DNA) to identify different types of tumors. The researchers found that Griffin could effectively determine estrogen receptor subtypes in metastatic breast cancer patients, achieving a high accuracy rate of 89% and 96% in separate tests. This method can help doctors provide more precise treatments based on the specific type of cancer a patient has. Who this helps: This helps patients with cancer by enabling more personalized and effective treatment options.

PubMed

The emerging promise of liquid biopsies in solid tumors.

2022

Nature cancer

Pappas L, Adalsteinsson VA, Parikh AR

PubMed

NGS-based identification and tracing of microsatellite instability from minute amounts DNA using inter-Alu-PCR.

2021

Nucleic acids research

Yu F, Leong KW, Makrigiorgos A, Adalsteinsson VA, Ladas I +3 more

Plain English
This research focused on a new method to detect microsatellite instability (MSI) in cancer samples using a technique called inter-Alu-PCR paired with next-generation sequencing (NGS). The method can identify MSI at very low levels, detecting changes in DNA with as little as 100 picograms of circulating DNA, which is about 100 times less than previously possible. This improvement is significant because it allows for more sensitive cancer testing, helping to pinpoint treatment options and predict outcomes. Who this helps: This helps patients by improving cancer diagnostics and treatment strategies.

PubMed

Modeling clonal structure over narrow time frames via circulating tumor DNA in metastatic breast cancer.

2021

Genome medicine

Weber ZT, Collier KA, Tallman D, Forman J, Shukla S +14 more

Plain English
This study looked at how circulating tumor DNA (ctDNA) can be used to monitor changes in the genetic makeup of tumors in patients with metastatic triple-negative breast cancer who are being treated with a drug called Cabozantinib. Researchers analyzed 42 blood samples from seven patients over short time periods, finding significant variations in ctDNA levels that sometimes differed from traditional imaging results, indicating different responses to the treatment. The study highlights how ctDNA monitoring can offer valuable insights into tumor behavior and treatment effectiveness without subjecting patients to invasive procedures. Who this helps: This helps patients with metastatic breast cancer and their doctors by providing better tools for tracking treatment response.

PubMed

Detection of Leptomeningeal Disease Using Cell-Free DNA From Cerebrospinal Fluid.

2021

JAMA network open

White MD, Klein RH, Shaw B, Kim A, Subramanian M +24 more

Plain English
This study looked at whether analyzing cell-free DNA (cfDNA) in cerebrospinal fluid (CSF) can diagnose leptomeningeal disease (LMD), a serious cancer complication, more accurately than the current standard test that examines cells in the fluid. They found that cfDNA tests correctly identified LMD in 94% of follow-up samples, compared to only 75% accuracy for the traditional cell assessment. This improved detection is important because it can lead to better treatment decisions for patients. Who this helps: This benefits cancer patients who may have LMD, as well as their doctors.

PubMed

Circulating Cell-Free DNA as Biomarker of Taxane Resistance in Metastatic Castration-Resistant Prostate Cancer.

2021

Cancers

Francini E, Ou FS, Rhoades J, Wolfe EG, O'Connor EP +9 more

Plain English
This study looked at whether certain changes in cell-free DNA in the blood could predict if men with advanced prostate cancer would not respond to treatments called docetaxel or cabazitaxel. Researchers analyzed samples from 176 patients and found no clear link between these DNA changes and resistance to either treatment. This matters because it highlights that current methods for predicting treatment resistance in prostate cancer aren't effective, indicating a need for more research. Who this helps: This helps doctors and patients seeking better ways to predict treatment success in prostate cancer.

PubMed

Genomic and transcriptomic correlates of immunotherapy response within the tumor microenvironment of leptomeningeal metastases.

2021

Nature communications

Prakadan SM, Alvarez-Breckenridge CA, Markson SC, Kim AE, Klein RH +24 more

Plain English
The study examined how well certain immune treatments work in patients with leptomeningeal disease (LMD), a serious condition caused by cancer spreading to the membranes around the brain and spinal cord. Researchers analyzed samples from patients undergoing treatment and found specific changes in immune and cancer cells that might help explain how well the therapies worked. Their findings show that analyzing these cell types can provide valuable insights for treating LMD, which currently has few effective options. Who this helps: This research benefits patients with leptomeningeal disease and their doctors, offering potential new strategies for treatment.

PubMed

Author Correction: Genomic and transcriptomic correlates of immunotherapy response within the tumor microenvironment of leptomeningeal metastases.

2021

Nature communications

Prakadan SM, Alvarez-Breckenridge CA, Markson SC, Kim AE, Klein RH +24 more

PubMed

Association of 17q22 Amplicon Via Cell-Free DNA With Platinum Chemotherapy Response in Metastatic Triple-Negative Breast Cancer.

2021

JCO precision oncology

Collier KA, Asad S, Tallman D, Jenison J, Rajkovic A +8 more

Plain English
This study looked at whether a specific change in genetic material, identified in the blood of patients with metastatic triple-negative breast cancer (mTNBC), affects how well they respond to platinum chemotherapy. Among 71 patients, those with a genetic change called 17q22 amplification had a median progression-free survival (PFS) of about 7 months with platinum treatment, compared to just 3.8 months for those without this change, showing that this alteration might help predict better outcomes. This is important because it can help doctors tailor treatments for patients based on their genetic profile. Who this helps: Patients with metastatic triple-negative breast cancer.

PubMed

Aggressive Subsets of Metastatic Triple Negative Breast Cancer.

2020

Clinical breast cancer

Singh J, Asad S, Zhang Y, Nock W, Adams E +10 more

Plain English
This study looked at how certain groups of patients with metastatic triple-negative breast cancer (mTNBC) respond to treatment and how long they survive. Researchers found that patients with inflammatory breast cancer (IBC) had a median overall survival of just 15.2 months, while young patients without IBC survived for about 21.2 months, and those over 45 without IBC lived for 31.2 months. This means that younger patients and those with IBC face worse outcomes, highlighting the need for targeted therapies for these specific groups. Who this helps: This information benefits patients with mTNBC, doctors, and researchers looking for better treatment options.

PubMed

Sensitive Detection of Minimal Residual Disease in Patients Treated for Early-Stage Breast Cancer.

2020

Clinical cancer research : an official journal of the American Association for Cancer Research

Parsons HA, Rhoades J, Reed SC, Gydush G, Ram P +37 more

Plain English
This study developed a new test to find tiny amounts of leftover cancer cells in patients who have been treated for early-stage breast cancer. This new method was 100 times more sensitive than the older tests and could accurately identify minimal residual disease in 81% of newly diagnosed metastatic breast cancer patients. For early-stage patients, the test's accuracy at finding residual disease was lower, around 19% at one year after treatment, but detecting leftover cancer cells was linked to a much higher chance of cancer returning. Who this helps: This research benefits breast cancer patients and doctors by providing better tools for monitoring treatment effectiveness and recurrence risk.

PubMed

Reversion and non-reversion mechanisms of resistance to PARP inhibitor or platinum chemotherapy in BRCA1/2-mutant metastatic breast cancer.

2020

Annals of oncology : official journal of the European Society for Medical Oncology

Waks AG, Cohen O, Kochupurakkal B, Kim D, Dunn CE +20 more

Plain English
This study looked at how some advanced breast cancer patients with BRCA1 or BRCA2 mutations become resistant to certain treatments, specifically PARP inhibitors and platinum chemotherapy. They examined tumor samples from eight patients before and after they developed resistance, finding that half (four patients) had genetic changes that likely restored the function of BRCA proteins, leading to resistance. This is important because it highlights potential new targets for treatment and shows that measuring the BRCA-related protein activity can help predict how patients will respond to further therapies. Who this helps: This helps patients with BRCA1/2 mutations and their doctors in choosing more effective treatment strategies.

PubMed

Immunotherapy in Multiple Myeloma: Accelerating on the Path to the Patient.

2019

Clinical lymphoma, myeloma & leukemia

Ghobrial I, Cruz CH, Garfall A, Shah N, Munshi N +8 more

Plain English
Researchers studied how new immunotherapy treatments can improve outcomes for patients with multiple myeloma, a type of blood cancer. They reviewed various approaches, such as CAR T-cell therapies, vaccines, and antibody-based treatments from recent expert discussions. The workshop highlighted the effectiveness of these treatments, with specific therapies like daratumumab showing promise in targeting the disease more effectively, enhancing the ability to fight cancer. Who this helps: This research benefits patients with multiple myeloma and their doctors by providing insights into effective treatment options.

PubMed

A nuclease-polymerase chain reaction enables amplification of probes used for capture-based DNA target enrichment.

2019

Nucleic acids research

Leong KW, Yu F, Adalsteinsson VA, Reed S, Gydush G +4 more

Plain English
This study looked at a new method for quickly producing DNA probes used to capture specific DNA targets, which can often be costly. Researchers developed a process that can make a large number of these probes in a short time without needing to know their exact DNA sequences, leading to much lower preparation costs. They found that after using this method to create probes from a small set of DNA targets, they could significantly increase the efficiency of capturing relevant sequences during testing, achieving over 80% accuracy in identifying the right DNA after just two rounds of processing. Who this helps: This helps researchers and medical professionals working with DNA testing and genetic research.

PubMed

Liquid versus tissue biopsy for detecting acquired resistance and tumor heterogeneity in gastrointestinal cancers.

2019

Nature medicine

Parikh AR, Leshchiner I, Elagina L, Goyal L, Levovitz C +42 more

Plain English
This study compared two methods of testing for cancer resistance: liquid biopsy, which analyzes DNA from a blood sample, and standard tissue biopsy, which takes a sample from a tumor. Researchers looked at 42 patients with gastrointestinal cancers who showed resistance to treatment. They found that liquid biopsies identified important resistance changes in 78% of cases that standard tissue biopsies missed, showing that cancer can have many different forms within the same patient. Who this helps: This helps patients with gastrointestinal cancers by providing better detection methods for treatment resistance.

PubMed

Author Correction: Liquid versus tissue biopsy for detecting acquired resistance and tumor heterogeneity in gastrointestinal cancers.

2019

Nature medicine

Parikh AR, Leshchiner I, Elagina L, Goyal L, Levovitz C +42 more

Plain English
This study looked at two different ways to find resistance in tumors and understand their differences in gastrointestinal cancers: through liquid biopsy (a blood test) and tissue biopsy (a sample from the tumor). The research did not provide specific results due to an amendment, but comparing these methods is important for better treatment strategies. Understanding how tumors change over time can lead to more effective therapies for patients. Who this helps: Patients with gastrointestinal cancers.

PubMed

Structural Alterations Driving Castration-Resistant Prostate Cancer Revealed by Linked-Read Genome Sequencing.

2018

Cell

Viswanathan SR, Ha G, Hoff AM, Wala JA, Carrot-Zhang J +26 more

Plain English
This study looked at advanced prostate cancer (mCRPC) by analyzing the genetic changes in tumor samples from 23 patients and additional blood samples from 86 patients. The researchers found that a significant number of these cancers (70%-87%) had unusual rearrangements in a specific gene region, which were rarely seen in earlier stages of prostate cancer. Understanding these genetic changes is important because they can guide more effective treatment options for patients with this aggressive form of cancer. Who this helps: This helps patients with advanced prostate cancer and their doctors by providing insights into potential new treatment targets.

PubMed

Tumor fraction in cell-free DNA as a biomarker in prostate cancer.

2018

JCI insight

Choudhury AD, Werner L, Francini E, Wei XX, Ha G +17 more

Plain English
This study looked at the amount of tumor DNA found in the bloodstream of patients with advanced prostate cancer to see how it relates to their disease's progression and response to treatment. Researchers analyzed 663 blood samples from 140 patients and found that higher levels of tumor DNA were linked to more bone metastases; for instance, patients with four or more bone metastases had a median tumor DNA level of 0.190, compared to just 0.014 for those without bone metastases. This matters because tracking these DNA levels could help doctors predict how well patients will respond to treatments and potentially improve patient management. Who this helps: This helps patients with advanced prostate cancer and their doctors by providing a clearer way to monitor treatment responses.

PubMed

Publication data sourced from PubMed . Plain-English summaries generated by AI. Not medical advice.