A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine (Q28260241)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25860647%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine (English)

1 reference

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5 March 2020

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6

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5 March 2020

Finn Drabløs

8

1 reference

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5 March 2020

author name string

Maren F Hansen

1

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5 March 2020

Jostein Johansen

2

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5 March 2020

Inga Bjørnevoll

3

1 reference

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5 March 2020

Anna E Sylvander

4

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5 March 2020

Kristin S Steinsbekk

5

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5 March 2020

Arne K Sandvik

7

1 reference

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5 March 2020

Wenche Sjursen

9

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5 March 2020

language of work or name

English

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publication date

1 September 2015

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5 March 2020

1 reference

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5 March 2020

volume

14

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5 March 2020

issue

3

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5 March 2020

page(s)

437-448

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Creative Commons Attribution 4.0 International

5 March 2020

copyright license

start time

10 April 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1007/s10689-015-9803-2

0 references

cites work

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

1 reference

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Structural basis for processive DNA synthesis by yeast DNA polymerase ɛ

20 March 2017

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20 March 2017

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

20 March 2017

1 reference

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Comprehensive molecular characterization of human colon and rectal cancer

20 March 2017

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20 March 2017

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20 March 2017

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20 March 2017

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Hereditary and familial colon cancer

20 March 2017

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A method and server for predicting damaging missense mutations

20 March 2017

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Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

20 March 2017

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20 March 2017

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Fast and accurate short read alignment with Burrows-Wheeler transform

20 March 2017

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20 March 2017

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20 March 2017

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Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland

20 March 2017

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Structural principles for the inhibition of the 3'-5' exonuclease activity of Escherichia coli DNA polymerase I by phosphorothioates

20 March 2017

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

20 March 2017

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 April 2017

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 April 2017

1 reference

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COSMIC: exploring the world's knowledge of somatic mutations in human cancer

7 April 2017

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Amino acid difference formula to help explain protein evolution

7 April 2017

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Structural basis for the 3'-5' exonuclease activity of Escherichia coli DNA polymerase I: a two metal ion mechanism

7 April 2017

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Deciphering key features in protein structures with the new ENDscript server

7 April 2017

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Detection of nonneutral substitution rates on mammalian phylogenies

7 April 2017

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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

24 May 2017

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Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment

29 September 2017

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A mutation in POLE predisposing to a multi-tumour phenotype

29 September 2017

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Early onset pancreatic cancer: a controlled trial

29 September 2017

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The promise of whole-exome sequencing in medical genetics

29 September 2017

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Eleven candidate susceptibility genes for common familial colorectal cancer

29 September 2017

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CHEK2*1100delC homozygosity in the Netherlands--prevalence and risk of breast and lung cancer

29 September 2017

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Identification of novel variants in colorectal cancer families by high-throughput exome sequencing

29 September 2017

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Exonuclease 1 preferentially repairs mismatches generated by DNA polymerase α

29 September 2017

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CDD: conserved domains and protein three-dimensional structure

29 September 2017

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Familial colon cancer syndromes: an update of a rapidly evolving field

29 September 2017

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Visualization of eukaryotic DNA mismatch repair reveals distinct recognition and repair intermediates.

29 September 2017

1 reference

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Hereditary colon cancer syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

Cancer risks in first-degree relatives of CHEK2 mutation carriers: effects of mutation type and cancer site in proband

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

Pancreatic adenocarcinoma: the actual 5-year survivors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

EXO1-A multi-tasking eukaryotic nuclease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

Genetic testing for high-risk colon cancer patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

Mutations in CHEK2 associated with prostate cancer risk

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

A systematic review and meta-analysis of familial colorectal cancer risk

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

29 September 2017

https://api.crossref.org/works/10.1007%2FS10689-015-9803-2

The 3'-->5' exonucleases of DNA polymerases delta and epsilon and the 5'-->3' exonuclease Exo1 have major roles in postreplication mutation avoidance in Saccharomyces cerevisiae

21 January 2018

1 reference

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Effects of mutations in the Exo III motif of the herpes simplex virus DNA polymerase gene on enzyme activities, viral replication, and replication fidelity.

29 September 2017

1 reference

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Functional analysis of point mutations in human flap endonuclease-1 active site

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

Functional consequences and exonuclease kinetic parameters of point mutations in bacteriophage T4 DNA polymerase

29 September 2017

1 reference

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Cocrystal structure of an editing complex of Klenow fragment with DNA

29 September 2017

1 reference

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The 3'-5' exonuclease of DNA polymerase I of Escherichia coli: contribution of each amino acid at the active site to the reaction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

Site-directed mutagenesis at the Exo III motif of phi 29 DNA polymerase; overlapping structural domains for the 3'-5' exonuclease and strand-displacement activities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

MutationTaster2: mutation prediction for the deep-sequencing age.

29 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10689-015-9803-2

Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10689-015-9803-2

A novel founder CHEK2 mutation is associated with increased prostate cancer risk

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10689-015-9803-2

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559173

Mutational and pH studies of the 3' --> 5' exonuclease activity of bacteriophage T4 DNA polymerase

27 November 2018

1 reference

12 December 2020

Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers

1 reference

12 December 2020

CHEK2 1100delC Is a Susceptibility Allele for HNPCC-Related Colorectal Cancer

1 reference

12 December 2020

Effects of mutations on the partitioning of DNA substrates between the polymerase and 3'-5' exonuclease sites of DNA polymerase I (Klenow fragment)

1 reference

12 December 2020

10.1007/S10689-015-9803-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25860647%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 March 2020

1043567537

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Fatcat ID

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Fatcat

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24 November 2022

mapped directly with Wikidata item

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25860647%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25860647%20AND%20SRC:MED&resulttype=core&format=json