High tumor mutation burden fails to predict immune checkpoint blockade response across all cancer types

Very low mutation burden is a feature of inflamed recurrent glioblastomas responsive to cancer immunotherapy

(2021) Matthias Gromeier et al.   Nature Communications

Cancer statistics, 2020

(2020) Rebecca L. Siegel et al.   CA-A CANCER JOURNAL FOR CLINICIANS

Harmonization and Standardization of Panel-Based Tumor Mutational Burden (TMB) Measurement: Real-World Results and Recommendations of the QuIP Study

(2020) Albrecht Stenzinger et al.   Journal of Thoracic Oncology

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

Mechanisms and therapeutic implications of hypermutation in gliomas

(2020) Mehdi Touat et al.   NATURE

Interplay of somatic alterations and immune infiltration modulates response to PD-1 blockade in advanced clear cell renal cell carcinoma

(2020) David A. Braun et al.   NATURE MEDICINE

Neoadjuvant immunotherapy leads to pathological responses in MMR-proficient and MMR-deficient early-stage colon cancers

(2020) Myriam Chalabi et al.   NATURE MEDICINE

Neoantigen responses, immune correlates, and favorable outcomes after ipilimumab treatment of patients with prostate cancer

(2020) Sumit K. Subudhi et al.   Science Translational Medicine

Establishing guidelines to harmonize tumor mutational burden (TMB): in silico assessment of variation in TMB quantification across diagnostic platforms: phase I of the Friends of Cancer Research TMB Harmonization Project

(2020) Diana M Merino et al.   Journal for ImmunoTherapy of Cancer

The FDA approval of pembrolizumab for patients with TMB >10 mut/Mb: was it a wise decision? No

(2020) V. Prasad et al.   ANNALS OF ONCOLOGY

The FDA approval of pembrolizumab for adult and pediatric patients with tumor mutational burden (TMB) ≥10: a decision centered on empowering patients and their physicians

(2020) V. Subbiah et al.   ANNALS OF ONCOLOGY

What is the burden of proof for tumor mutational burden in gliomas?

(2020) Mustafa Khasraw et al.   NEURO-ONCOLOGY

Tumor mutational load predicts survival after immunotherapy across multiple cancer types

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

Temozolomide Induced Hypermutation in Glioma: Evolutionary Mechanisms and Therapeutic Opportunities

(2019) Paul Daniel et al.   Frontiers in Oncology

Immune induction strategies in metastatic triple-negative breast cancer to enhance the sensitivity to PD-1 blockade: the TONIC trial

(2019) Leonie Voorwerk et al.   NATURE MEDICINE

Tumor Mutation Burden—From Hopes to Doubts

(2019) Alfredo Addeo et al.   JAMA Oncology

Spatial and temporal heterogeneity of panel-based tumor mutational burden (TMB) in pulmonary adenocarcinoma: separating biology from technical artifacts

(2019) Daniel Kazdal et al.   Journal of Thoracic Oncology

Efficacy of Pembrolizumab in Patients With Noncolorectal High Microsatellite Instability/Mismatch Repair–Deficient Cancer: Results From the Phase II KEYNOTE-158 Study

(2019) Aurelien Marabelle et al.   JOURNAL OF CLINICAL ONCOLOGY

Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma

(2019) David Liu et al.   NATURE MEDICINE

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

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

The Immune Landscape of Cancer

(2018) Vésteinn Thorsson et al.   IMMUNITY

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

Comprehensive molecular characterization of clinical responses to PD-1 inhibition in metastatic gastric cancer

(2018) Seung Tae Kim et al.   NATURE MEDICINE

Multi-omics analysis reveals neoantigen-independent immune cell infiltration in copy-number driven cancers

(2018) Daniel J. McGrail et al.   Nature Communications

Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines

(2018) Kyle Ellrott et al.   Cell Systems

Pembrolizumab treatment of advanced cervical cancer: Updated results from the phase 2 KEYNOTE-158 study.

(2018) Hyun Cheol Chung et al.   JOURNAL OF CLINICAL ONCOLOGY

TGFβ attenuates tumour response to PD-L1 blockade by contributing to exclusion of T cells

(2018) Sanjeev Mariathasan et al.   NATURE

Genomic correlates of response to immune checkpoint blockade in microsatellite-stable solid tumors

(2018) Diana Miao et al.   NATURE GENETICS

Fundamental Mechanisms of Immune Checkpoint Blockade Therapy

(2018) Spencer C. Wei et al.   Cancer Discovery

Development of tumor mutation burden as an immunotherapy biomarker: utility for the oncology clinic

(2018) T A Chan et al.   ANNALS OF ONCOLOGY

Pan-tumor genomic biomarkers for PD-1 checkpoint blockade–based immunotherapy

(2018) Razvan Cristescu et al.   SCIENCE

High-resolution clonal mapping of multi-organ metastasis in triple negative breast cancer

(2018) Gloria V. Echeverria et al.   Nature Communications

NetMHCpan-4.0: Improved Peptide–MHC Class I Interaction Predictions Integrating Eluted Ligand and Peptide Binding Affinity Data

(2017) Vanessa Jurtz et al.   JOURNAL OF IMMUNOLOGY

Nivolumab in patients with metastatic DNA mismatch repair-deficient or microsatellite instability-high colorectal cancer (CheckMate 142): an open-label, multicentre, phase 2 study

(2017) Michael J Overman et al.   LANCET ONCOLOGY

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

First FDA Approval Agnostic of Cancer Site — When a Biomarker Defines the Indication

(2017) Steven Lemery et al.   NEW ENGLAND JOURNAL OF MEDICINE

Treatment-Induced Mutagenesis and Selective Pressures Sculpt Cancer Evolution

(2017) Subramanian Venkatesan et al.   Cold Spring Harbor Perspectives in Medicine

Contribution of systemic and somatic factors to clinical response and resistance to PD-L1 blockade in urothelial cancer: An exploratory multi-omic analysis

(2017) Alexandra Snyder et al.   PLOS MEDICINE

Genomic and Transcriptomic Features of Response to Anti-PD-1 Therapy in Metastatic Melanoma

(2016) Willy Hugo et al.   CELL

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

(2016) N. McGranahan et al.   SCIENCE

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

(2015) Michael S. Rooney et al.   CELL

Tumor neoantigens: building a framework for personalized cancer immunotherapy

(2015) Matthew M. Gubin et al.   JOURNAL OF CLINICAL INVESTIGATION

The prognostic landscape of genes and infiltrating immune cells across human cancers

(2015) Andrew J Gentles et al.   NATURE MEDICINE

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

(2015) Dung T. Le et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2015) N. A. Rizvi et al.   SCIENCE

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Cigarette smoking and lung cancer-relative risk estimates for the major histological types from a pooled analysis of case-control studies

(2011) Beate Pesch et al.   INTERNATIONAL JOURNAL OF CANCER

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS