POLE/POLD1 mutation and tumor immunotherapy
X Ma, L Dong, X Liu, K Ou, L Yang - Journal of Experimental & Clinical …, 2022 - Springer
POLE and POLD1 encode the catalytic and proofreading subunits of DNA polymerase ε and
polymerase δ, and play important roles in DNA replication and proofreading. POLE/POLD1 …
polymerase δ, and play important roles in DNA replication and proofreading. POLE/POLD1 …
Mechanisms underlying mutational signatures in human cancers
The collective somatic mutations observed in a cancer are the outcome of multiple
mutagenic processes that have been operative over the lifetime of a patient. Each process …
mutagenic processes that have been operative over the lifetime of a patient. Each process …
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden
Background High tumor mutational burden (TMB) is an emerging biomarker of sensitivity to
immune checkpoint inhibitors and has been shown to be more significantly associated with …
immune checkpoint inhibitors and has been shown to be more significantly associated with …
[HTML][HTML] Comprehensive analysis of hypermutation in human cancer
We present an extensive assessment of mutation burden through sequencing analysis of>
81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused …
81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused …
Human DNA polymerase ε is a source of C> T mutations at CpG dinucleotides
M Tomkova, MJ McClellan, G Crevel, AM Shahid… - Nature Genetics, 2024 - nature.com
C-to-T transitions in CpG dinucleotides are the most prevalent mutations in human cancers
and genetic diseases. These mutations have been attributed to deamination of 5 …
and genetic diseases. These mutations have been attributed to deamination of 5 …
A panoply of errors: polymerase proofreading domain mutations in cancer
Although it has long been recognized that the exonucleolytic proofreading activity intrinsic to
the replicative DNA polymerases Pol δ and Pol ε is essential for faithful replication of DNA …
the replicative DNA polymerases Pol δ and Pol ε is essential for faithful replication of DNA …
Landscape of tumor mutation load, mismatch repair deficiency, and PD-L1 expression in a large patient cohort of gastrointestinal cancers
The efficacy of immunotherapy varies widely among different gastrointestinal cancers.
Response to immune checkpoint inhibitors is shown to correlate with tumor mutation load …
Response to immune checkpoint inhibitors is shown to correlate with tumor mutation load …
Prognostic Significance of POLE Proofreading Mutations in Endometrial Cancer
DN Church, E Stelloo, RA Nout… - Journal of the …, 2015 - academic.oup.com
Background: Current risk stratification in endometrial cancer (EC) results in frequent over-
and underuse of adjuvant therapy, and may be improved by novel biomarkers. We …
and underuse of adjuvant therapy, and may be improved by novel biomarkers. We …
Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication
E Shinbrot, EE Henninger, N Weinhold… - Genome …, 2014 - genome.cshlp.org
Tumors with somatic mutations in the proofreading exonuclease domain of DNA polymerase
epsilon (POLE-exo*) exhibit a novel mutator phenotype, with markedly elevated TCT→ TAT …
epsilon (POLE-exo*) exhibit a novel mutator phenotype, with markedly elevated TCT→ TAT …
[HTML][HTML] Emerging critical roles of Fe–S clusters in DNA replication and repair
Fe–S clusters are partners in the origin of life that predate cells, acetyl-CoA metabolism,
DNA, and the RNA world. The double helix solved the mystery of DNA replication by base …
DNA, and the RNA world. The double helix solved the mystery of DNA replication by base …