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 …
POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies
E Nicolas, EA Golemis, S Arora - Gene, 2016 - Elsevier
The evolutionarily conserved human polymerase delta (POLD1) gene encodes the large
p125 subunit which provides the essential catalytic activities of polymerase δ (Polδ) …
p125 subunit which provides the essential catalytic activities of polymerase δ (Polδ) …
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 …
Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice
A Uchimura, M Higuchi, Y Minakuchi, M Ohno… - Genome …, 2015 - genome.cshlp.org
The germline mutation rate is an important parameter that affects the amount of genetic
variation and the rate of evolution. However, neither the rate of germline mutations in …
variation and the rate of evolution. However, neither the rate of germline mutations in …
[HTML][HTML] Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair
Fidelity of DNA replication is maintained using polymerase proofreading and the mismatch
repair pathway. Tumors with loss of function of either mechanism have elevated mutation …
repair pathway. Tumors with loss of function of either mechanism have elevated mutation …
Human cancers express a mutator phenotype: hypothesis, origin, and consequences
LA Loeb - Cancer research, 2016 - AACR
The mutator phenotype hypothesis was postulated more than 40 years ago. It was based on
the multiple enzymatic steps required to precisely replicate the 6 billion bases in the human …
the multiple enzymatic steps required to precisely replicate the 6 billion bases in the human …
POLE proofreading defects: Contributions to mutagenesis and cancer
VS Park, ZF Pursell - DNA repair, 2019 - Elsevier
DNA polymerases are uniquely poised to contribute to the elevated mutation burdens seen
in many human tumors. These mutations can arise through a number of different polymerase …
in many human tumors. These mutations can arise through a number of different polymerase …
How asymmetric DNA replication achieves symmetrical fidelity
Accurate DNA replication of an undamaged template depends on polymerase selectivity for
matched nucleotides, exonucleolytic proofreading of mismatches, and removal of remaining …
matched nucleotides, exonucleolytic proofreading of mismatches, and removal of remaining …
[PDF][PDF] Replication DNA polymerases, genome instability and cancer therapies
JD Strauss, ZF Pursell - NAR cancer, 2023 - academic.oup.com
It has been over a decade since the initial identification of exonuclease domain mutations in
the genes encoding the catalytic subunits of replication DNA polymerases ϵ and δ (POLE …
the genes encoding the catalytic subunits of replication DNA polymerases ϵ and δ (POLE …
[HTML][HTML] A PoleP286R mouse model of endometrial cancer recapitulates high mutational burden and immunotherapy response
Cancer is instigated by mutator phenotypes, including deficient mismatch repair and p53-
associated chromosomal instability. More recently, a distinct class of cancers was identified …
associated chromosomal instability. More recently, a distinct class of cancers was identified …