Functional Analysis of Cancer-Associated DNA Polymerase ε Variants in Saccharomyces cerevisiae

scientific article published on 19 January 2018

Functional Analysis of Cancer-Associated DNA Polymerase ε Variants in Saccharomyces cerevisiae is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1534/G3.118.200042
P932PMC publication ID5844290
P698PubMed publication ID29352080

P2093author name stringPolina V Shcherbakova
Elizabeth A Moore
Daniel P Kane
Stephanie R Barbari
P2860cites workGermline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomasQ24617520
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DNA polymerase II, the probable homolog of mammalian DNA polymerase epsilon, replicates chromosomal DNA in the yeast Saccharomyces cerevisiaeQ27929803
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Three new dominant drug resistance cassettes for gene disruption in Saccharomyces cerevisiaeQ28131610
Mutation at the polymerase active site of mouse DNA polymerase delta increases genomic instability and accelerates tumorigenesisQ28245001
Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replicationQ28248149
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancersQ28256331
A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestineQ28260241
The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics dataQ28266682
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancersQ28270798
A panoply of errors: polymerase proofreading domain mutations in cancerQ28272700
DNA polymerase ε and δ exonuclease domain mutations in endometrial cancerQ28287769
Integrated genomic characterization of endometrial carcinomaQ28289962
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposisQ28307340
In vivo consequences of putative active site mutations in yeast DNA polymerases alpha, epsilon, delta, and zetaQ28354217
Signatures of mutational processes in human cancerQ29547191
COSMIC: exploring the world's knowledge of somatic mutations in human cancerQ29615725
A cancer-associated DNA polymerase delta variant modeled in yeast causes a catastrophic increase in genomic instabilityQ33591410
Participation of DNA polymerase zeta in replication of undamaged DNA in Saccharomyces cerevisiaeQ33628462
A mutation in POLE predisposing to a multi-tumour phenotypeQ33836509
Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations.Q33957827
Concurrent genetic alterations in DNA polymerase proofreading and mismatch repair in human colorectal cancerQ34705149
Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatmentQ34982562
Prognostic significance of POLE proofreading mutations in endometrial cancer.Q34994583
Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testingQ35007615
Role of DNA mismatch repair defects in the pathogenesis of human cancerQ35085461
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancerQ35154300
Colon cancer-associated mutator DNA polymerase δ variant causes expansion of dNTP pools increasing its own infidelityQ35616094
A clinically applicable molecular-based classification for endometrial cancersQ35863143
Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosisQ36082471
Hypermutability of homonucleotide runs in mismatch repair and DNA polymerase proofreading yeast mutants.Q36568353
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinomaQ36637663
Genomic Correlates of Immune-Cell Infiltrates in Colorectal CarcinomaQ36850230
Recurrent R-spondin fusions in colon cancerQ36949683
Immune activation and response to pembrolizumab in POLE-mutant endometrial cancerQ36951751
Molecular Analysis of Mixed Endometrial Carcinomas Shows Clonality in Most Cases.Q37268075
DNA polymerase epsilon and delta proofreading suppress discrete mutator and cancer phenotypes in miceQ37386020
DNA polymerases ζ and Rev1 mediate error-prone bypass of non-B DNA structuresQ37416977
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.Q37592779
Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients.Q38798543
Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker studyQ38839775
DNA Replication-A Matter of FidelityQ38853128
Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapyQ39421725
Mutation spectrum of POLE and POLD1 mutations in South East Asian women presenting with grade 3 endometrioid endometrial carcinomas.Q40126456
Polymerase Epsilon Exonuclease Domain Mutations in Ovarian Endometrioid Carcinoma.Q41593170
A common cancer-associated DNA polymerase ε mutation causes an exceptionally strong mutator phenotype, indicating fidelity defects distinct from loss of proofreadingQ41990410
Immunogenomics of Hypermutated Glioblastoma: A Patient with Germline POLE Deficiency Treated with Checkpoint Blockade ImmunotherapyQ42821853
Response to PD-1 Blockade in Microsatellite Stable Metastatic Colorectal Cancer Harboring a POLE Mutation.Q45979172
Comprehensive Analysis of Hypermutation in Human CancerQ46592106
Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.Q47647485
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomasQ48404100
Undifferentiated and Dedifferentiated Endometrial Carcinomas With POLE Exonuclease Domain Mutations Have a Favorable Prognosis.Q51006500
Endometrial Carcinomas with POLE Exonuclease Domain Mutations Have a Favorable Prognosis.Q53210791
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.Q54275718
POLE exonuclease domain mutation predicts long progression-free survival in grade 3 endometrioid carcinoma of the endometrium.Q54351302
Defective DNA polymerase-delta proofreading causes cancer susceptibility in miceQ73954766
P433issue3
P921main subjectSaccharomyces cerevisiaeQ719725
P304page(s)1019-1029
P577publication date2018-03-02
P1433published inG3Q5512701
P1476titleFunctional Analysis of Cancer-Associated DNA Polymerase ε Variants in Saccharomyces cerevisiae
P478volume8

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cites work (P2860)
Q61124737A recurrent cancer-associated substitution in DNA polymerase ε produces a hyperactive enzyme
Q89983002DNA polymerase δ proofreads errors made by DNA polymerase ε
Q64109038Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient
Q95326700Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction
Q94467585Homologous Recombination Repair Truncations Predict Hypermutation in Microsatellite Stable Colorectal and Endometrial Tumors
Q92009964POLE proofreading defects: Contributions to mutagenesis and cancer
Q64997686Polymerase-mediated ultramutagenesis in mice produces diverse cancers with high mutational load.
Q98463593Role of POLE and POLD1 in familial cancer
Q97529348Yeast-based assays for the functional characterization of cancer-associated variants of human DNA repair genes

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