Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing (Q35007615)

5 August 2017

Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing (English)

1 reference

5 August 2017

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Caroline C Billingsley

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25224212%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

David E. Cohn

2

1 reference

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2 June 2020

author name string

David G Mutch

3

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2 June 2020

Julie A Stephens

4

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2 June 2020

Adrian A Suarez

5

1 reference

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2 June 2020

Paul J Goodfellow

6

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2 June 2020

language of work or name

English

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publication date

15 September 2014

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5 August 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25224212%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

121

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2 June 2020

issue

3

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2 June 2020

page(s)

386-394

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25224212%20AND%20SRC:MED&resulttype=core&format=json

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

2 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Integrated genomic characterization of endometrial carcinoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Frequent mutations in the RPL22 gene and its clinical and functional implications

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Comprehensive molecular characterization of human colon and rectal cancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

The major roles of DNA polymerases epsilon and delta at the eukaryotic replication fork are evolutionarily conserved

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Predicting the functional impact of protein mutations: application to cancer genomics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Uterine papillary serous carcinoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Genome-wide model for the normal eukaryotic DNA replication fork.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Factors associated with Type I and Type II endometrial cancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

A method and server for predicting damaging missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Use of archived specimens in evaluation of prognostic and predictive biomarkers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

DNA polymerase epsilon and delta proofreading suppress discrete mutator and cancer phenotypes in mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

ATR mutation in endometrioid endometrial cancer is associated with poor clinical outcomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Dividing the workload at a eukaryotic replication fork

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Yeast DNA polymerase epsilon participates in leading-strand DNA replication

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

SIFT: Predicting amino acid changes that affect protein function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Frequent HOXA11 and THBS2 promoter methylation, and a methylator phenotype in endometrial adenocarcinoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

High incidence of epithelial cancers in mice deficient for DNA polymerase delta proofreading

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

A mutator phenotype in cancer.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

COBRA: a sensitive and quantitative DNA methylation assay

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Hypermutability and mismatch repair deficiency in RER+ tumor cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Two pathogenetic types of endometrial carcinoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

Eukaryotic DNA polymerase amino acid sequence required for 3'----5' exonuclease activity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

The 3' to 5' exonuclease activity located in the DNA polymerase delta subunit of Saccharomyces cerevisiae is required for accurate replication

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304930

POLE exonuclease domain mutation predicts long progression-free survival in grade 3 endometrioid carcinoma of the endometrium.

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FCNCR.29046

Society of Gynecologic Oncologists Education Committee Statement on Risk Assessment for Inherited Gynecologic Cancer Predispositions☆

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FCNCR.29046

The 3'-->5' exonucleases of both DNA polymerases delta and epsilon participate in correcting errors of DNA replication in Saccharomyces cerevisiae

21 January 2018

1 reference

12 December 2020

MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers

1 reference

12 December 2020

Microsatellite Instability and Epigenetic Inactivation ofMLH1and Outcome of Patients With Endometrial Carcinomas of the Endometrioid Type

1 reference

12 December 2020

Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCR

1 reference

12 December 2020

Defective DNA polymerase-delta proofreading causes cancer susceptibility in mice

1 reference

12 December 2020

Identifiers

DOI

10.1002/CNCR.29046

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25224212%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25224212%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference