Tumor mutational burden quantification from targeted gene panels: major advancements and challenges

Tumor mutational load predicts survival after immunotherapy across multiple cancer types

(2019) Robert M. Samstein et al.   NATURE GENETICS

Measuring Tumor Mutational Burden (TMB) in Plasma from mCRPC Patients Using Two Commercial NGS Assays

(2019) Ping Qiu et al.   Scientific Reports

Assessment of Blood Tumor Mutational Burden as a Potential Biomarker for Immunotherapy in Patients With Non–Small Cell Lung Cancer With Use of a Next-Generation Sequencing Cancer Gene Panel

(2019) Zhijie Wang et al.   JAMA Oncology

First-Line Nivolumab Plus Ipilimumab in Advanced Non–Small-Cell Lung Cancer (CheckMate 568): Outcomes by Programmed Death Ligand 1 and Tumor Mutational Burden as Biomarkers

(2019) Neal Ready et al.   JOURNAL OF CLINICAL ONCOLOGY

Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer

(2018) Matthew D. Hellmann et al.   CANCER CELL

Tumor Mutational Burden and Efficacy of Nivolumab Monotherapy and in Combination with Ipilimumab in Small-Cell Lung Cancer

(2018) Matthew D. Hellmann et al.   CANCER CELL

Emerging predictors of the response to the blockade of immune checkpoints in cancer therapy

(2018) Xiaolei Li et al.   Cellular & Molecular Immunology

Molecular Determinants of Response to Anti–Programmed Cell Death (PD)-1 and Anti–Programmed Death-Ligand 1 (PD-L1) Blockade in Patients With Non–Small-Cell Lung Cancer Profiled With Targeted Next-Generation Sequencing

(2018) Hira Rizvi et al.   JOURNAL OF CLINICAL ONCOLOGY

Atezolizumab versus chemotherapy in patients with platinum-treated locally advanced or metastatic urothelial carcinoma (IMvigor211): a multicentre, open-label, phase 3 randomised controlled trial

(2018) Thomas Powles et al.   LANCET

Landscape of Tumor Mutation Load, Mismatch Repair Deficiency, and PD-L1 Expression in a Large Patient Cohort of Gastrointestinal Cancers

(2018) Mohamed E. Salem et al.   MOLECULAR CANCER RESEARCH

Nivolumab plus Ipilimumab versus Sunitinib in Advanced Renal-Cell Carcinoma

(2018) Robert J. Motzer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nivolumab plus Ipilimumab in Lung Cancer with a High Tumor Mutational Burden

(2018) Matthew D. Hellmann et al.   NEW ENGLAND JOURNAL OF MEDICINE

A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal

(2018) James X. Sun et al.   PLoS Computational Biology

Predicting response to checkpoint inhibitors in melanoma beyond PD-L1 and mutational burden

(2018) Carl Morrison et al.   Journal for ImmunoTherapy of Cancer

TP53 Mutation as Potential Negative Predictor for Response of Anti-CTLA-4 Therapy in Metastatic Melanoma

(2018) Wenjing Xiao et al.   EBioMedicine

Mutation load estimation model as a predictor of the response to cancer immunotherapy

(2018) Guan-Yi Lyu et al.   npj Genomic Medicine

Abstract 2250: Tumor mutational burden: Guidelines for derivation and robustness of measurement

(2018) Natalie Mola et al.   CANCER RESEARCH

Abstract CT078: Tumor mutational burden (TMB) as a biomarker for clinical benefit from dual immune checkpoint blockade with nivolumab (nivo) + ipilimumab (ipi) in first-line (1L) non-small cell lung cancer (NSCLC): identification of TMB cutoff from CheckMate 568

(2018) Suresh S. Ramalingam et al.   CANCER RESEARCH

Size Matters: Dissecting Key Parameters for Panel-Based Tumor Mutational Burden (TMB) Analysis

(2018) Ivo Buchhalter et al.   INTERNATIONAL JOURNAL OF CANCER

Three-fold overestimation of tumor mutation burden using 248 gene panel versus whole exome.

(2018) Andrew Nguyen et al.   JOURNAL OF CLINICAL ONCOLOGY

High response rate to PD-1 blockade in desmoplastic melanomas

(2018) Zeynep Eroglu et al.   NATURE

Blood-based tumor mutational burden as a predictor of clinical benefit in non-small-cell lung cancer patients treated with atezolizumab

(2018) David R. Gandara et al.   NATURE MEDICINE

The hallmarks of successful anticancer immunotherapy

(2018) Lorenzo Galluzzi et al.   Science Translational Medicine

Tumor mutational burden is a determinant of immune-mediated survival in breast cancer

(2018) Alexandra Thomas et al.   OncoImmunology

141PTumor mutational burden (TMB) standardization initiative: Establishing a consistent methodology for TMB measurement in clinical samples

(2018) A Stenzinger et al.   ANNALS OF ONCOLOGY

131PDevelopment and analytical validation of a plasma-based tumor mutational burden (TMB) score from next-generation sequencing panels

(2018) K Quinn et al.   ANNALS OF ONCOLOGY

Human leukocyte antigen variation is associated with adverse events of checkpoint inhibitors

(2018) Omar Hasan Ali et al.   EUROPEAN JOURNAL OF CANCER

Measurement of Tumor Mutational Burden (TMB) in routine molecular diagnostics: in-silico and real-life analysis of three larger gene panels

(2018) Volker Endris et al.   INTERNATIONAL JOURNAL OF CANCER

33rd Annual Meeting & Pre-Conference Programs of the Society for Immunotherapy of Cancer (SITC 2018): Late-Breaking Abstracts

(2018)   Journal for ImmunoTherapy of Cancer

Atezolizumab as first-line treatment in cisplatin-ineligible patients with locally advanced and metastatic urothelial carcinoma: a single-arm, multicentre, phase 2 trial

(2017) Arjun V Balar et al.   LANCET

Tumor Mutational Burden as an Independent Predictor of Response to Immunotherapy in Diverse Cancers

(2017) Aaron M. Goodman et al.   MOLECULAR CANCER THERAPEUTICS

Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients

(2017) Ahmet Zehir et al.   NATURE MEDICINE

Durvalumab after Chemoradiotherapy in Stage III Non–Small-Cell Lung Cancer

(2017) Scott J. Antonia et al.   NEW ENGLAND JOURNAL OF MEDICINE

First-Line Nivolumab in Stage IV or Recurrent Non–Small-Cell Lung Cancer

(2017) David P. Carbone et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomic landscape associated with potential response to anti-CTLA-4 treatment in cancers

(2017) Chan-Young Ock et al.   Nature Communications

Genomic Analysis of Tumor Microenvironment Immune Types across 14 Solid Cancer Types: Immunotherapeutic Implications

(2017) Yu-Pei Chen et al.   Theranostics

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden

(2017) Zachary R. Chalmers et al.   Genome Medicine

Whole exome sequencing for determination of tumor mutation load in liquid biopsy from advanced cancer patients

(2017) Florence Koeppel et al.   PLoS One

INTEGRATE-neo: a pipeline for personalized gene fusion neoantigen discovery

(2016) Jin Zhang et al.   BIOINFORMATICS

Deficient Mismatch Repair and the Role of Immunotherapy in Metastatic Colorectal Cancer

(2016) Dionisia Quiroga et al.   CURRENT TREATMENT OPTIONS IN ONCOLOGY

Atezolizumab in patients with locally advanced and metastatic urothelial carcinoma who have progressed following treatment with platinum-based chemotherapy: a single-arm, multicentre, phase 2 trial

(2016) Jonathan E Rosenberg et al.   LANCET

Clonal neoantigens elicit T cell immunoreactivity and sensitivity to immune checkpoint blockade

(2016) N. McGranahan et al.   SCIENCE

Association and prognostic significance of BRCA1/2-mutation status with neoantigen load, number of tumor-infiltrating lymphocytes and expression of PD-1/PD-L1 in high grade serous ovarian cancer

(2016) Kyle C. Strickland et al.   Oncotarget

The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine

(2016) Andrea Garofalo et al.   Genome Medicine

Targeted Next Generation Sequencing Identifies Markers of Response to PD-1 Blockade

(2016) D. B. Johnson et al.   Cancer Immunology Research

Molecular and Genetic Properties of Tumors Associated with Local Immune Cytolytic Activity

(2015) Michael S. Rooney et al.   CELL

Nivolumab versus Docetaxel in Advanced Nonsquamous Non–Small-Cell Lung Cancer

(2015) Hossein Borghaei et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome Sequencing of Cell-Free DNA from Metastatic Cancer Patients Identifies Clinically Actionable Mutations Distinct from Primary Disease

(2015) Timothy M. Butler et al.   PLoS One

Genomic correlates of response to CTLA-4 blockade in metastatic melanoma

(2015) E. M. Van Allen et al.   SCIENCE

Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer

(2015) N. A. Rizvi et al.   SCIENCE

Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer

(2015) Muhammed Murtaza et al.   Nature Communications

Comprehensive cancer-gene panels can be used to estimate mutational load and predict clinical benefit to PD-1 blockade in clinical practice

(2015) Luís Felipe Campesato et al.   Oncotarget

Predicting immunogenic tumour mutations by combining mass spectrometry and exome sequencing

(2014) Mahesh Yadav et al.   NATURE

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

Genetic Basis for Clinical Response to CTLA-4 Blockade in Melanoma

(2014) Alexandra Snyder et al.   NEW ENGLAND JOURNAL OF MEDICINE

Evaluation of Exome Sequencing to Estimate Tumor Burden in Plasma

(2014) Daniel Klevebring et al.   PLoS One

Mutational Landscape of Basal Cell Carcinomas by Whole-Exome Sequencing

(2013) Shyam S. Jayaraman et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mutational heterogeneity in cancer and the search for new cancer-associated genes

(2013) Michael S. Lawrence et al.   NATURE

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA

(2013) Muhammed Murtaza et al.   NATURE

Tumor Mutation Burden Forecasts Outcome in Ovarian Cancer with BRCA1 or BRCA2 Mutations

(2013) Nicolai Juul Birkbak et al.   PLoS One

Cancer Genome Scanning in Plasma: Detection of Tumor-Associated Copy Number Aberrations, Single-Nucleotide Variants, and Tumoral Heterogeneity by Massively Parallel Sequencing

(2012) K. C. A. Chan et al.   CLINICAL CHEMISTRY

Improved Survival with Ipilimumab in Patients with Metastatic Melanoma

(2010) F. Stephen Hodi et al.   NEW ENGLAND JOURNAL OF MEDICINE