A5007596753- Cancer Genomics and Diagnostics
- Bladder and Urothelial Cancer Treatments
- Renal cell carcinoma treatment
- Prostate Cancer Treatment and Research
- Cancer Immunotherapy and Biomarkers
- PARP inhibition in cancer therapy
- Urinary and Genital Oncology Studies
- Lung Cancer Treatments and Mutations
- Genetic factors in colorectal cancer
- Ovarian cancer diagnosis and treatment
- Cancer-related gene regulation
- Endometrial and Cervical Cancer Treatments
- Sarcoma Diagnosis and Treatment
- Cancer Diagnosis and Treatment
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Advanced Breast Cancer Therapies
- BRCA gene mutations in cancer
- Colorectal Cancer Treatments and Studies
- Genital Health and Disease
- Cervical Cancer and HPV Research
- Urologic and reproductive health conditions
- Pancreatic and Hepatic Oncology Research
- Lymphoma Diagnosis and Treatment
Foundation Medicine (United States)
2019-2025
Boston Foundation
2022-2024
The Medical Foundation
2023
Editas Medicine (United States)
2023
Emergency Medicine Foundation
2023
Seattle University
2020
New York Proton Center
2020
Programmed Death Ligand 1 (PD-L1) positivity rates differ between different metastatic sites and the primary tumor. Understanding PD-L1 expression characteristics could guide biopsy procedures motivate research to better understand site-specific differences in tumor microenvironment. The purpose of this study was compare on immune cells triple negative breast cancer (TNBC) tumors. Retrospective utilizing database Foundation Medicine containing SP142 companion diagnostic immunohistochemistry...
In this study, we report the clinicopathologic and genomic profiles of 891 patients with RET fusion driven advanced solid tumors. All patient samples were tested using a tissue-based DNA hybrid capture next generation sequencing (NGS) assay subset liquid biopsies liquid-based NGS assay. fusions found in 523 NSCLC 368 other The two tumor types highest number lung adenocarcinoma thyroid papillary carcinoma, they had prevalence rate 1.14% (455/39,922) 9.09% (109/1199), respectively. A total 61...
Importance Tumor mutational burden (TMB) is a putative biomarker of efficacy for immune checkpoint inhibitor (ICI) therapies solid tumors, but not specifically penile squamous cell carcinoma (PSCC). Objective To characterize features and ICI therapy outcomes associated with high TMB in PSCC the routine clinical practice setting. Design, Setting, Participants In this cohort study, 397 cases were analyzed to identify genomic alterations more than 300 cancer-associated genes signatures,...
Abstract Background One of the most common sporadic homozygous deletions in cancers is 9p21 loss, which includes genes methylthioadenosine phosphorylase (MTAP), CDKN2A, and CDKN2B, has been correlated with worsened outcomes immunotherapy resistance. MTAP-loss a developing drug target through synthetic lethality MAT2A PMRT5 inhibitors. The purpose this study to investigate prevalence genomic landscape advanced gastrointestinal (GI) tumors its role as prognostic biomarker. Materials Methods We...
PURPOSE Isocitrate dehydrogenase ( IDH) 1/ 2 genomic alterations (GA) occur in 20% of intrahepatic cholangiocarcinoma (iCCA); however, the immunogenomic landscape IDH1-/2-mutated iCCA is largely unknown. METHODS Comprehensive profiling (CGP) was performed on 3,067 cases advanced iCCA. Tumor mutational burden (TMB), PD-L1 expression (Dako 22C3), microsatellite instability (MSI), and loss heterozygosity (gLOH) as a surrogate marker for homologous recombination deficiency were examined. RNA...
Malignant phyllodes tumors (MPT) are rare fibroepithelial breast cancers with no known effective systemic therapy; metastatic progression portends a dismal prognosis. We sought to describe the genomic landscape of MPTs through profiling and immunotherapeutic biomarker analysis.
Abstract We examined a large dataset of female metastatic breast cancers (MBCs) profiled with comprehensive genomic profiling (CGP) to identify the prevalence and distribution immunotherapy responsiveness‐associated biomarkers. DNA was extracted from 3831 consecutive MBCs: 1237 (ER pos / HER2 neg ), 1953 ER amp , 641 triple‐negative cancer (TNBC). CGP performed using FoundationOne ® or CDx NGS assay. Tumor mutational burden (TMB) microsatellite instability (MSI) were determined in subset...
Vulvar squamous cell carcinoma (vSCC) encompasses two predominant variants: one associated with detectable high-risk strains of human papillomavirus (hrHPV) and a second form often occurring in the context chronic dermatitis postmenopausal women. Genomic assessment large-scale cohort patients aggressive vSCC may identify distinct mutational signatures.Tumor samples from total 280 underwent hybridization capture analysis up to 406 cancer-related genes. Human (HPV) sequences were detected by...
At diagnosis, the majority of patients with intrahepatic cholangiocarcinoma (IHCC) present advanced disease and a poor prognosis. Comprehensive genomic profiling (CGP) early in course may increase access to targeted therapies clinical trials; however, unresolved issues remain surrounding optimal biopsy type submit for CGP.Mutational frequencies between primary tumor biopsies (Pbx), metastatic (Mbx), liquid (Lbx) 1,632 IHCC were compared.Potentially actionable alterations found 52%, 34%, 35%...
Pathological and genomic profiling have transformed breast cancer care by matching patients to targeted treatments. However, tumors evolve evade therapeutic interventions often through the acquisition of mutations. Here we examine profiled with tissue (TBx) liquid biopsy (LBx) as part routine clinical care, characterize tumor evolutionary landscape identify potential vulnerabilities in relapsed setting. Real-world evidence demonstrates that LBx is utilized later identifies associations...
Mesothelioma is an aggressive malignancy with heterogeneous outcomes that are partly driven by the differential efficacy of existing therapies across histologic types and sites origin. Large-scale molecular analysis mesothelioma its subtypes has potential to inform future therapeutic strategies.We analyzed 1,294 mesotheliomas {980 pleural (malignant [MPM]) 314 peritoneal [MPeM])} using next-generation sequencing, determined programmed death ligand-1 (PD-L1) expression histology in a subset...
<h3>Objective</h3> Molecular profiling is developing to inform treatment in endometrial cancer. Using real world evidence, we sought evaluate frontline immune checkpoint inhibitor vs chemotherapy effectiveness advanced cancer, stratified by Tumor Mutational Burden (TMB) ≥10 mut/MB and microsatellite instability (MSI). <h3>Methods</h3> Patients with cancer the US-based de-identified Flatiron Health-Foundation Medicine Clinico-Genomic Database were included. Data originated from patients...
Among patients with breast carcinoma who have metastatic disease, 15%-30% will eventually develop brain metastases. We examined the genomic landscape of a large cohort metastases (BCBMs) and compared it primary carcinomas (BCs).We retrospectively analyzed 733 BCBMs tested comprehensive profiling (CGP) them 10,772 (not-paired) specimens. For subset 16 triple-negative (TNBC)-brain metastasis samples, programmed death-ligand 1 (PD-L1) immunohistochemistry (IHC) was performed concurrently.A...
APOBEC mutagenesis underlies somatic evolution and accounts for tumor heterogeneity in several cancers, including breast cancer (BC). In this study, we evaluated the characteristics of a real-world cohort time-to-treatment discontinuation (TTD) overall survival on CDK4/6 inhibitors (CDK4/6i) plus endocrine therapy (ET) immune checkpoint inhibitors.
The purpose of the study was to compare effectiveness PARP inhibitor maintenance therapy (mPARPi) in real-world practice by biomarker status [BRCA1/2 alterations (BRCAalt) and a homologous recombination deficiency signature (HRDsig)] advanced ovarian cancer.
5592 Background: CH results from mutations in hematopoietic stem cells and can occur clinically relevant genes that are detected liquid biopsy (LBx) of solid tumor patients. TP53 less frequently BRCA1/2 be as potentially confounding interpretation LBx results. Using an algorithmic method for prediction a cohort tubo-ovarian carcinoma (OC) LBx, we evaluated the prevalence non-CH alterations genes, frequency by circulating DNA fraction (ctDNA TF) concordance samples with paired tissue...
4183 Background: CH results from fitness-enhancing mutations in hematopoietic stem cells. Many somatic variants (SVs) are cancer-associated genes, including ATM and CHEK2 , which do not have a homologous recombination deficiency (HRD) phenotype. SVs well-established HRD-associated genes like BRCA1/2 PALB2 also appear white blood cells as CH, albeit more rarely. Herein, we report the prevalence of origin these clinically relevant that confound PC liquid biopsies (LBx) study their association...
8036 Background: Cigarette smoking exposes the lungs to tobacco mutagens, producing a distinct mutational pattern with elevated tumor burden and strand bias for C>A mutations, aiding identification of lung origin in cancer unknown primary (CUP). We evaluated signature (TSig) caller diagnosing on tissue (TBx) liquid biopsies (LBx) tested via FoundationOne CDx (F1CDx) Liquid (F1LCDx) comprehensive genomic profiling (CGP) assays. Methods: analyzed 351,611 TBx 68,888 LBx samples, assessing...