Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. (Q36058262)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

title

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

Ben Kinnersley

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

Amy L Sherborne

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

Claire Palles

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

Maria Timofeeva

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

Timothy Bishop

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

Malcolm G. Dunlop

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

Richard Houlston

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

14

Ian Tomlinson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

3

Sara E Dobbins

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

6

Steven Penegar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

4

Matthew Frampton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

author name string

Daniel Chubb

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

Amy Price

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

Yussanne P Ma

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

language of work or name

English

0 references

publication date

22 June 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

14 March 2020

http://eprints.whiterose.ac.uk/99481/

1 reference

content deliverer

White Rose Research Online

http://eprints.whiterose.ac.uk/99481/

content deliverer

White Rose Research Online

object has role

published version

copyright license

Creative Commons Attribution 4.0 International

0 references

https://doi.org/10.1038/ncomms11883

copyright license

Creative Commons Attribution 4.0 International

object has role

published version

0 references

published in

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

page(s)

11883

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

14 March 2020

copyright license

start time

22 June 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ncomms11883

0 references

cites work

The ICR1000 UK exome series: a resource of gene variation in an outbred population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Implications of polygenic risk for personalised colorectal cancer screening

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Germline mutations in shelterin complex genes are associated with familial glioma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

POT1 loss-of-function variants predispose to familial melanoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Reduced LIMK2 expression in colorectal cancer reflects its role in limiting stem cell proliferation.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

METAL: fast and efficient meta-analysis of genomewide association scans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Architecture of inherited susceptibility to common cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Fast and accurate short read alignment with Burrows-Wheeler transform

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Common variants in the GDF5-UQCC region are associated with variation in human height

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

National study of colorectal cancer genetics

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Principal components analysis corrects for stratification in genome-wide association studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Cohort profile: 1958 British birth cohort (National Child Development Study).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

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

2 October 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

2 October 2017

https://api.crossref.org/works/10.1038%2FNCOMMS11883

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=4917884

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4917884

Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27329137

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS11883

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

0 references

0 references

0 references

Dimensions Publication ID

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329137%20AND%20SRC:MED&resulttype=core&format=json