The importance of ancestry to understanding tumor mutation burden in cancer [PDF]
In the current issue of Cancer Cell, Nassar and colleagues find that in solid tumors, tumor-only sequencing leads to an overestimate of the biomarker tumor mutation burden (TMB), particularly in patients of African or Asian ancestry. Correction of the TMB estimate improves the correlation between TMB and response to immunotherapy.
Snyder, Alexandra, McGranahan, Nicholas
core +5 more sources
Racial disparities in patient survival and tumor mutation burden, and the association between tumor mutation burden and cancer incidence rate [PDF]
AbstractThe causes underlying racial disparities in cancer are multifactorial. In addition to socioeconomic issues, biological factors may contribute to these inequities, especially in disease incidence and patient survival. To date, there have been few studies that relate the disparities in these aspects to genetic aberrations.
Zhang, Wensheng +3 more
core +4 more sources
Tumor mutation burden: from comprehensive mutational screening to the clinic [PDF]
The recent advent of immunomodulatory therapies into the clinic has demanded the identification of innovative predictive biomarkers to identify patients most likely to respond to immunotherapy and support the design of tailored clinical trials.
Francesca Galuppini +5 more
doaj +4 more sources
Association of LRP1B Mutation With Tumor Mutation Burden and Outcomes in Melanoma and Non-small Cell Lung Cancer Patients Treated With Immune Check-Point Blockades [PDF]
Background: Tumor mutation burden (TMB) have been served as the most prevalent biomarkers to predict immunotherapy response. LRP1B (low-density lipoprotein receptor-related protein 1B) is frequently mutated in melanoma, non-small cell lung cancer (NSCLC)
Hao Chen +6 more
doaj +2 more sources
Background BLM encodes a RecQ DNA helicase that regulates genomic stability, and its mutations are associated with increased cancer susceptibility. Here, we show a multifaceted role of BLM mutations in tumorigenesis and immunotherapy. Methods and Results:
Huiping Shi +3 more
doaj +2 more sources
Tumor mutation burden and recurrent tumors in hereditary lung cancer [PDF]
Lung cancer is the leading cause of cancer death worldwide and cancer relapse accounts for the majority of cancer mortality. The mechanism is still unknown, especially in hereditary lung cancer without known actionable mutations.
Yi‐Chiung Hsu +10 more
doaj +3 more sources
Very low mutation burden is a feature of inflamed recurrent glioblastomas responsive to cancer immunotherapy. [PDF]
Several immunotherapy clinical trials in recurrent glioblastoma have reported long-term survival benefits in 10-20% of patients. Here we perform genomic analysis of tumor tissue from recurrent WHO grade IV glioblastoma patients acquired prior to ...
Verhaak, Roel G +71 more
core +2 more sources
The Challenges of Tumor Mutational Burden as an Immunotherapy Biomarker [PDF]
Tumor mutational burden (TMB) reflects cancer mutation quantity. Mutations are processed to neo-antigens and presented by major histocompatibility complex (MHC) proteins to T cells. To evade immune eradication, cancers exploit checkpoints that dampen T cell reactivity.
Denis L, Jardim +3 more
openaire +2 more sources
What is the burden of proof for tumor mutational burden in gliomas? [PDF]
Abstract The treatment of patients with a variety of solid tumors has benefitted from immune checkpoint inhibition targeting the anti-programmed cell death-1 (PD-1)/programmed cell death ligand-1 (PD-L1) axis. The US Food and Drug Administration (FDA) granted accelerated approval of PD-1 inhibitor, pembrolizumab, for the treatment of ...
Mustafa Khasraw +3 more
openaire +2 more sources
Tumor Mutational Burden as a Predictive Biomarker in Solid Tumors [PDF]
Abstract Tumor mutational burden (TMB), defined as the number of somatic mutations per megabase of interrogated genomic sequence, varies across malignancies. Panel sequencing–based estimates of TMB have largely replaced whole-exome sequencing–derived TMB in the clinic.
Dan Sha +5 more
openaire +2 more sources

