Cancers arising from germline DNA mismatch repair deficiency or polymerase proofreading
deficiency (MMRD and PPD) in children harbour the highest mutational and microsatellite …

Tumors with mismatch repair deficiency (MMR-d) are characterized by sequence alterations
in microsatellites and can accumulate thousands of mutations. This high mutational burden …

More than 1.6 million new cases of cancer will be diagnosed in the US in 2016, resulting in
more than 500,000 deaths. Although chemotherapy has been the mainstay of treatment in …

Background Somatic mutations have the potential to encode “non-self” immunogenic
antigens. We hypothesized that tumors with a large number of somatic mutations due to …

Immune checkpoint-blocking therapies have yielded positive clinical data in a series of
human malignancies. Recent work from Le and colleagues strongly supports the use of …

The genomes of cancers deficient in mismatch repair contain exceptionally high numbers of
somatic mutations. In a proof-of-concept study, we previously showed that colorectal cancers …

PURPOSE Genomes of tumors that are deficient in DNA mismatch repair (dMMR) have high
microsatellite instability (MSI-H) and harbor hundreds to thousands of somatic mutations that …

Mismatch repair deficiency (dMMR) or microsatellite instability-high (MSI-H) represents a
distinct phenotype among solid tumors characterized by frequent frameshift mutations …

Abstract Programmed death receptor-1/ligand 1 (PD-1/L1) antibodies can induce durable
remissions in malignancies. However, response rates are only approximately 10% to 20% in …

Biomarkers such as programmed death receptor 1 ligand (PD-L1) expression, tumor
mutational burden (TMB), and high microsatellite instability are potentially applicable to …