(Q42020935)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

1 reference

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Antoni Castells

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Ángel Carracedo

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Clara Esteban-Jurado

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Maria Vila-Casadesús

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Juan J Lozano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Anna Přistoupilová

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Sergi Beltran

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Francesc Balaguer

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Sebastià Franch-Expósito

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Sergi Castellví-Bel

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

author name string

Pilar Garre

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Jenifer Muñoz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Teresa Ocaña

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Miriam Cuatrecasas

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Josep M Piqué

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Clara Ruiz-Ponte

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Anna Abulí

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Xavier Bessa

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Montserrat Andreu

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Trinidad Caldés

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Luis Bujanda

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

language of work or name

English

0 references

publication date

24 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

page(s)

131-142

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

10 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Realizing the promise of cancer predisposition genes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Eleven candidate susceptibility genes for common familial colorectal cancer

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

The GEM mapper: fast, accurate and versatile alignment by filtration

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Systematic review and meta-analysis of the relationship between EPHX1 polymorphisms and colorectal cancer risk

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Evidence of linkage to chromosomes 10p15.3-p15.1, 14q24.3-q31.1 and 9q33.3-q34.3 in non-syndromic colorectal cancer families

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

BARD1 expression predicts outcome in colon cancer.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

SWI/SNF nucleosome remodellers and cancer.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Hereditary and familial colon cancer

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

BFAST: an alignment tool for large scale genome resequencing

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

The function of p27 KIP1 during tumor development.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Concepts in familial colorectal cancer: where do we stand and what is the future?

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

The Sequence Alignment/Map format and SAMtools

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Germline EPHB2 receptor variants in familial colorectal cancer

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Crystal structure of the BARD1 BRCT domains

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Patterns of somatic mutation in human cancer genomes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Is there more to BARD1 than BRCA1?

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

IL-1beta-specific up-regulation of neutrophil gelatinase-associated lipocalin is controlled by IkappaB-zeta

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

A novel member of the IkappaB family, human IkappaB-zeta, inhibits transactivation of p65 and its DNA binding

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

A genome wide linkage analysis in Swedish families with hereditary non-familial adenomatous polyposis/non-hereditary non-polyposis colorectal cancer

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

A polymorphism in the CDKN1B gene is associated with increased risk of hereditary prostate cancer

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

BRCT Repeats As Phosphopeptide-Binding Modules Involved in Protein Targeting

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Epoxide hydrolases: biochemistry and molecular biology

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Crystal structure of the p27Kip1 cyclin-dependent-kinase inhibitor bound to the cyclin A-Cdk2 complex

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318970

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25058500

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cancer predisposing BARD1 mutations in breast-ovarian cancer families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25058500

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2014.89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

10 March 2020

1004086821

0 references

Fatcat ID

release_2puvvaav2zbfvpkkzw7ktve5fa

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2puvvaav2zbfvpkkzw7ktve5fa

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

PubMed publication ID

25058500

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25058500%20AND%20SRC:MED&resulttype=core&format=json