A5070111285- Cancer Genomics and Diagnostics
- Cancer Immunotherapy and Biomarkers
- Lung Cancer Treatments and Mutations
- Genetic factors in colorectal cancer
- Immunotherapy and Immune Responses
- Prostate Cancer Treatment and Research
- Colorectal Cancer Treatments and Studies
- Gastrointestinal Tumor Research and Treatment
- RNA modifications and cancer
- Gastric Cancer Management and Outcomes
- Prostate Cancer Diagnosis and Treatment
- Lung Cancer Research Studies
- Bladder and Urothelial Cancer Treatments
- Lung Cancer Diagnosis and Treatment
- Breast Cancer Treatment Studies
- Molecular Biology Techniques and Applications
- Epigenetics and DNA Methylation
- Single-cell and spatial transcriptomics
- Mycobacterium research and diagnosis
- Cancer Treatment and Pharmacology
- Ferroptosis and cancer prognosis
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Pancreatic and Hepatic Oncology Research
- Cancer Diagnosis and Treatment
- Sarcoma Diagnosis and Treatment
NYU Langone Health
2024-2025
Sidney Kimmel Comprehensive Cancer Center
2017-2025
Johns Hopkins University
2016-2025
Hospital Israelita Albert Einstein
2020-2024
Hinge Health
2024
New York University
2024
University of Baltimore
2018-2023
Hospital São Paulo
2021
Johns Hopkins Medicine
2016-2019
Sidney Kimmel Cancer Center
2018-2019
Noninvasive liquid biopsy analysis of circulating tumor DNA permits direct detection early-stage cancers.
Abstract Non-invasive approaches for cell-free DNA (cfDNA) assessment provide an opportunity cancer detection and intervention. Here, we use a machine learning model detecting tumor-derived cfDNA through genome-wide analyses of fragmentation in prospective study 365 individuals at risk lung cancer. We validate the using independent cohort 385 non-cancer 46 patients. Combining features, clinical factors, CEA levels, followed by CT imaging, detected 94% patients with across stages subtypes,...
Abstract Despite the initial successes of immunotherapy, there is an urgent clinical need for molecular assays that identify patients more likely to respond. Here, we report ultrasensitive measures circulating tumor DNA (ctDNA) and T-cell expansion can be used assess responses immune checkpoint blockade in metastatic lung cancer (N = 24). Patients with response therapy had a complete reduction ctDNA levels after initiation therapy, whereas nonresponders no significant changes or increase...
Abstract Liquid biopsies are providing new opportunities for detection of residual disease in cell-free DNA (cfDNA) after surgery but may be confounded through identification alterations arising from clonal hematopoiesis. Here, we identify circulating tumor-derived (ctDNA) ultrasensitive targeted sequencing analyses matched cfDNA and white blood cells the same patient. We apply this approach to analyze samples patients CRITICS trial, a phase III randomized controlled study perioperative...
Lung cancer screening via annual low-dose computed tomography has poor adoption. We conducted a prospective case-control study among 958 individuals eligible for lung to develop blood-based detection test that when positive is followed by tomography. Changes in genome-wide cell-free DNA fragmentation profiles (fragmentomes) peripheral blood reflected genomic and chromatin characteristics of cancer. applied machine learning fragmentome features identify who were more or less likely have...
With the advent of precision oncology, there is an urgent need to develop improved methods for rapidly detecting responses targeted therapies. Here, we have developed ultrasensitive measure cell-free tumor load using and whole-genome sequencing approaches assess tyrosine kinase inhibitors in patients with advanced lung cancer. Analyses 28 treated anti-EGFR or HER2 therapies revealed a bimodal distribution circulating DNA (ctDNA) after therapy initiation, molecular responders having nearly...
Objective Since the rising of coronavirus disease 2019 (COVID-19) pandemic, there is uncertainty regarding impact transmission to cancer patients. Evidence on increased severity for patients undergoing antineoplastic treatment posed against deferring oncologic treatment. We aimed evaluate COVID-19 pandemic patient volumes in a center an epicenter pandemic. Methods Outpatient and inpatient were extracted from electronic health record database. Two intervals compared: pre-COVID-19 (March May...
Abstract Circulating cell-free DNA (cfDNA) assays for monitoring individuals with cancer typically rely on prior identification of tumor-specific mutations. Here, we develop a tumor-independent and mutation-independent approach (DELFI-tumor fraction, DELFI-TF) using low-coverage whole genome sequencing to determine the cfDNA tumor fraction validate method in two independent cohorts patients colorectal or lung cancer. DELFI-TF scores strongly correlate circulating levels (ctDNA) (r = 0.90, p...
Abstract Purpose: Circulating tumor DNA (ctDNA) has the potential to guide therapy selection and monitor treatment response in patients with metastatic cancer. However, germline clonal hematopoiesis–associated alterations can confound identification of tumor-specific mutations cell-free (cfDNA), often requiring additional sequencing tissue. The current study assessed whether ctDNA-based monitoring could be performed a tissue–independent manner by combining ultra-deep targeted analyses cfDNA...
Abstract Purpose: Although immunotherapy is the mainstay of therapy for advanced non–small cell lung cancer (NSCLC), robust biomarkers clinical response are lacking. The heterogeneity responses together with limited value radiographic assessments to timely and accurately predict therapeutic effect—especially in setting stable disease—calls development molecularly informed real-time minimally invasive approaches. In addition capturing tumor regression, liquid biopsies may be informative...
Polyclonal emergence of KIT secondary mutations is a main mechanism imatinib progression in gastrointestinal stromal tumor (GIST). Approved inhibitors sunitinib and regorafenib have complementary activity against resistance mutations. Preclinical evidence suggests that rapid alternation broadens the spectrum imatinib-resistant subclones targeted.Phase Ib study investigating continuous treatment with cycles (3 days) followed by (4 patients tyrosine kinase inhibitor (TKI)-refractory GIST. A...
The diagnostic workup of individuals suspected having lung cancer can be complex and protracted because conventional symptoms have low specificity sensitivity.Among with cancer, a blood-based approach to analyze cell-free DNA (cfDNA) fragmentation (the evaluation fragments for early interception [DELFI] score) enhance the possible presence cancer?Adults were referred Bispebjerg Hospital (Copenhagen, Denmark) initial imaging anomalies consistent cancer. Numbers types extracted from medical...
Abstract Liquid biopsy approaches provide an opportunity for both cancer detection and clinical assessment in a non-invasive manner. Here we apply blood-based lung screening test to 578 individuals diagnosed with through real-world diagnostic prospective trial (LEMA, NCT02894853). Pre-treatment plasma samples were processed the DELFI assay, validated cell-free DNA (cfDNA) based on locked machine learning analysis of genome-wide fragmentation patterns. Clinical data, including tumor stage...
Determining response to therapy for patients with pancreatic cancer can be challenging. We evaluated methods assessing therapeutic using cell-free DNA (cfDNA) in plasma from metastatic the CheckPAC trial (NCT02866383). Patients were before and after initiation of tumor-informed whole-genome sequencing (WGMAF) tumor-independent genome-wide cfDNA fragmentation profiles repeat landscapes (ARTEMIS-DELFI). Using WGMAF, molecular responders had a median overall survival (OS) 319 days compared 126...
3608 Background: Effective monitoring for relapse is a critical component of post-surgical care in colorectal cancer (CRC), particularly patients who remain at risk recurrence despite curative-intent treatment. Circulating tumor DNA (ctDNA) powerful biomarker detecting minimal residual disease (MRD) and predicting with high sensitivity specificity. However, its predictive value varies over time, negative results closer to surgery being less reliable than obtained later. Here we introduce...
1112 Background: Pembrolizumab (pembro) with chemotherapy has shown survival benefit in PD-L1+ (CPS10+) mTNBC, but many responses are not durable, and patients PD-L1 negative/low tumors do from the combination. Data GeparNuevo TONIC suggest that induction therapy can remodel tumor immune environment improve responses. We have conducted a trial two run-in cohorts mandatory serial tissue blood collections 50 mTNBC patients, comparing pembro vs. nab-paclitaxel (nab-P). Methods: Single-arm,...
5053 Background: Androgen receptor (AR) antagonists such as enzalutamide (enza) are standard therapy for mCRPC. AR alterations amplification (amp) and ligand binding domain (LBD) point mutations (PMs) can cause resistance to hormonal therapies enza. The most prevalent PMs T878A L702H. Preclinical evidence suggests that retains sensitivity enza compared L702H which confers by increasing activation glucocorticoids. Clinical data evaluating the efficacy of in patients with these is limited....
8074 Background: Liquid biopsies provide an opportunity for non-invasive lung cancer detection and tumor subtyping when tissue is not available. Here we evaluate a blood-based liquid biopsy approach its relationship to clinical subtype characteristics of cases using cohort 578 individuals from prospective trial (LEMA, NCT02894853). Methods: Pre-treatment plasma samples were processed the DELFI assay, cell-free DNA (cfDNA) genome-wide fragmentomics based machine learning classifier. Clinical...
PURPOSE Somatic KRAS mutations occur in approximately half of the patients with metastatic colorectal cancer (mCRC). Biologic tumor characteristics differ on basis mutation variant. are known to influence patient prognosis and used as predictive biomarker for treatment decisions. This study examined clinical features mCRC a somatic G12, G13, Q61, K117, or A146. METHODS A total 419 initially unresectable liver-limited metastases, who participated multicenter prospective trial, were evaluated...
Gastric metastasis is rare but it can be the initial symptom of cancer. The second leading cause this type breast A lack clinical signs and nonspecific side effects treatment primary tumors lead to misdiagnosis metastatic gastric Upper gastrointestinal endoscopy with biopsy immunohistochemistry should used for diagnosis. Treatment palliative; includes chemo, endocrine, radiation therapies. Four patients cancer were identified. All tested positive estrogen progesterone receptors, received...
e15664 Background: Currently available circulating cell-free DNA (cfDNA) assays require deep-targeted sequencing to detect cancer-specific mutations at low mutant allele frequency (MAF) levels in the blood. Recently, we developed a tumor-agnostic, mutation-independent approach that utilizes low-coverage whole genome called DELFI (DNA evaluation of fragments for early interception) Tumor Fraction (DELFI-TF), model designed predict plasma tumor fractions based on genome-wide...