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Extended family with an inherited pathogenic variant in polymerase delta provides strong evidence for recessive effect of proofreading deficiency in human cells
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/j.1460-2075.1991.tb07751.xopenalex-snapshot
The 3′ to 5′ exonuclease activity located in the DNA polymerase delta subunit of Saccharomyces cerevisiae is required for accurate replication.
inferredcites →https://doi.org/10.1002/j.1460-2075.1993.tb05790.xopenalex-snapshot
Pathway correcting DNA replication errors in Saccharomyces cerevisiae.
inferredcites →https://doi.org/10.1002/jgm.2951openalex-snapshot
Characterization of a novel POLD1 missense founder mutation in a Spanish population
inferredcites →https://doi.org/10.1007/s10689-021-00256-yopenalex-snapshot
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management
inferredcites →https://doi.org/10.1016/j.cell.2015.12.050openalex-snapshot
Mutational Strand Asymmetries in Cancer Genomes Reveal Mechanisms of DNA Damage and Repair
inferredcites →https://doi.org/10.1016/j.xgen.2022.100179openalex-snapshot
Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor
inferredcites →https://doi.org/10.1038/88963openalex-snapshot
Defective DNA polymerase-δ proofreading causes cancer susceptibility in mice
inferredcites →https://doi.org/10.1038/gim.2015.75openalex-snapshot
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
inferredcites →https://doi.org/10.1038/nature12477openalex-snapshot
Signatures of mutational processes in human cancer
inferredcites →https://doi.org/10.1038/nature13986openalex-snapshot
Topologically associating domains are stable units of replication-timing regulation
inferredcites →https://doi.org/10.1038/ncomms15183openalex-snapshot
Differences between germline and somatic mutation rates in humans and mice
inferredcites →https://doi.org/10.1038/ng.2503openalex-snapshot
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
inferredcites →https://doi.org/10.1038/ng1294-405openalex-snapshot
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer
inferredcites →https://doi.org/10.1038/s41436-020-0922-2openalex-snapshot
Role of POLE and POLD1 in familial cancer
inferredcites →https://doi.org/10.1038/s41467-018-04002-4openalex-snapshot
Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair
inferredcites →https://doi.org/10.1038/s41467-020-16296-4openalex-snapshot
Extreme differences between human germline and tumor mutation densities are driven by ancestral human-specific deviations
inferredcites →https://doi.org/10.1038/s41586-020-2785-8openalex-snapshot
The genomic landscapes of individual melanocytes from human skin
inferredcites →https://doi.org/10.1038/s41586-021-03477-4openalex-snapshot
Somatic mutation landscapes at single-molecule resolution
inferredcites →https://doi.org/10.1038/s41586-022-04712-2openalex-snapshot
Genetic and chemotherapeutic influences on germline hypermutation
inferredcites →https://doi.org/10.1038/s41588-021-00930-yopenalex-snapshot
Increased somatic mutation burdens in normal human cells due to defective DNA polymerases
inferredcites →https://doi.org/10.1038/s41594-021-00691-6openalex-snapshot
How asymmetric DNA replication achieves symmetrical fidelity
inferredcites →https://doi.org/10.1038/sj.onc.1209233openalex-snapshot
Dual role of LOH at MMR loci in hereditary non-polyposis colorectal cancer?
inferredcites →https://doi.org/10.1038/srep19458openalex-snapshot
Distinct mutation accumulation rates among tissues determine the variation in cancer risk
inferredcites →https://doi.org/10.1073/pnas.0907147106openalex-snapshot
DNA polymerase ε and δ proofreading suppress discrete mutator and cancer phenotypes in mice
inferredcites →https://doi.org/10.1073/pnas.0907526106openalex-snapshot
A cancer-associated DNA polymerase δ variant modeled in yeast causes a catastrophic increase in genomic instability
inferredcites →https://doi.org/10.1073/pnas.1901259116openalex-snapshot
Overlooked roles of DNA damage and maternal age in generating human germline mutations
inferredcites →https://doi.org/10.1073/pnas.232340999openalex-snapshot
High incidence of epithelial cancers in mice deficient for DNA polymerase δ proofreading
inferredcites →https://doi.org/10.1093/hmg/ddu058openalex-snapshot
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis
inferredcites →https://doi.org/10.1097/dcr.0000000000000084openalex-snapshot
Polymerase Proofreading-Associated Polyposis
inferredcites →https://doi.org/10.1101/372896openalex-snapshot
sigfit: flexible Bayesian inference of mutational signatures
inferredcites →https://doi.org/10.1101/gr.099655.109openalex-snapshot
Evolutionarily conserved replication timing profiles predict long-range chromatin interactions and distinguish closely related cell types
inferredcites →https://doi.org/10.1101/gr.226845.117openalex-snapshot
Mutational signatures of DNA mismatch repair deficiency in C. elegans and human cancers
inferredcites →https://doi.org/10.1101/sqb.2009.74.027openalex-snapshot
Evolving Views of DNA Replication (In)Fidelity
inferredcites →https://doi.org/10.1126/science.aat6576openalex-snapshot
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
inferredcites →https://doi.org/10.1126/science.aau1043openalex-snapshot
Characterizing mutagenic effects of recombination through a sequence-level genetic map
inferredcites →https://doi.org/10.1126/science.abl9283openalex-snapshot
Substitution mutational signatures in whole-genome–sequenced cancers in the UK population
inferredcites →https://doi.org/10.1126/scitranslmed.aan6446openalex-snapshot
Aristolochic acids and their derivatives are widely implicated in liver cancers in Taiwan and throughout Asia
inferredcites →https://doi.org/10.1139/g05-106openalex-snapshot
A method to select for mutator DNA polymerase δs inSaccharomyces cerevisiae
inferredcites →https://doi.org/10.1186/s12864-019-6056-8openalex-snapshot
Bioinformatics and DNA-extraction strategies to reliably detect genetic variants from FFPE breast tissue samples
inferredcites →https://doi.org/10.1371/journal.pcbi.1004873openalex-snapshot
CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing
inferredcites →https://doi.org/10.1371/journal.pgen.1009302openalex-snapshot
UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin
inferredcites →https://doi.org/10.1530/ey.19.14.16openalex-snapshot
The mutational landscape of human somatic and germline cells
inferredcites →https://doi.org/10.18632/oncotarget.22445openalex-snapshot
Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations
inferredcites →https://doi.org/10.20892/j.issn.2095-3941.2019.0097openalex-snapshot
Tissue specificity of DNA damage response and tumorigenesis
inferredcites →https://doi.org/10.4061/2010/260512openalex-snapshot
DNA Mismatch Repair in Eukaryotes and Bacteria
inferredcites →https://doi.org/10.7554/elife.80008openalex-snapshot
A paternal bias in germline mutation is widespread in amniotes and can arise independently of cell division numbers
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1093/genetics/iyae166openalex-snapshot
A maternal germline mutator phenotype in a family affected by heritable colorectal cancer
inferred← citeshttps://doi.org/10.1101/2023.12.06.570467openalex-snapshot
Mutational signature decomposition with deep neural networks reveals origins of clock-like processes and hypoxia dependencies
inferred← citeshttps://doi.org/10.1101/2024.08.22.24312232openalex-snapshot
Sperm from infertile, oligozoospermic men have elevated mutation rates
inferred← citeshttps://doi.org/10.1146/annurev-biodatasci-102523-104225openalex-snapshot
The Evolutionary Interplay of Somatic and Germline Mutation Rates
inferred← citeshttps://doi.org/10.1186/s13073-023-01234-yopenalex-snapshot
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1
inferred← citeshttps://doi.org/10.3389/fmolb.2023.1119900openalex-snapshot
Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome
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