(Q37147694)

18 August 2017

The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype (English)

1 reference

18 August 2017

1 reference

Hanne Meijers-Heijboer

7

object named as

Hanne Meijers-Heijboer

0 references

Annegien Broeks

2

object named as

Annegien Broeks

1 reference

18 August 2017

Marielle W G Ruijs

1

1 reference

18 August 2017

Fred H Menko

3

1 reference

18 August 2017

Margreet G E M Ausems

4

1 reference

18 August 2017

Anja Wagner

5

1 reference

18 August 2017

Rogier Oldenburg

6

1 reference

18 August 2017

Laura J van't Veer

8

1 reference

18 August 2017

Senno Verhoef

9

1 reference

18 August 2017

17 February 2009

1 reference

Hereditary Cancer in Clinical Practice

18 August 2017

1 reference

18 August 2017

7

1 reference

18 August 2017

1

1 reference

18 August 2017

4

1 reference

Risk stratification in cancer predisposition syndromes: lessons learned from novel molecular developments in Li-Fraumeni syndrome

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

CHEK2 is a multiorgan cancer susceptibility gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Germline TP53 mutations and Li-Fraumeni syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

CHK2 kinase--a busy messenger.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Mutation analysis of the CHK2 gene in families with hereditary breast cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Germline mutations in the TP53 gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

A cancer family syndrome in twenty-four kindreds

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Time to check CHEK2 in families with breast cancer?

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

CHEK2 variant I157T may be associated with increased breast cancer risk

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Limited relevance of the CHEK2 gene in hereditary breast cancer

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Excess risk for contralateral breast cancer in CHEK2*1100delC germline mutation carriers

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664322

Increasing evidence that germline mutations inCHEK2 do not cause Li-Fraumeni syndrome

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1897-4287-7-4

Is CHEK2 a cause of the Li Fraumeni syndrome?

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1897-4287-7-4

Analysis of Li–Fraumeni syndrome and Li–Fraumeni-like families for germline mutations in Bcl10

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1897-4287-7-4

Association of two mutations in theCHEK2 gene with breast cancer

21 January 2018

1 reference

12 December 2020

Germ line BAX alterations are infrequent in Li-Fraumeni syndrome

1 reference

12 December 2020

The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population

1 reference

12 December 2020

Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome

1 reference

12 December 2020

Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing

1 reference

12 December 2020

Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families

1 reference

12 December 2020

Breast cancer predisposing alleles in Poland

1 reference

12 December 2020

Identifiers

DOI

10.1186/1897-4287-7-4

1 reference

Dimensions Publication ID

18 August 2017

0 references

1 reference

18 August 2017

PubMed publication ID

19338683

1 reference