(Q37033772)

17 August 2017

High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort (English)

1 reference

17 August 2017

10

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17 August 2017

David L Goode

9

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Mandy L Ballinger

object named as

Mandy L Ballinger

2

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author name string

Gillian Mitchell

1

1 reference

17 August 2017

Stephen Wong

3

1 reference

17 August 2017

Chelsee Hewitt

4

1 reference

17 August 2017

Paul James

5

1 reference

17 August 2017

Mary-Anne Young

6

1 reference

17 August 2017

Arcadi Cipponi

7

1 reference

17 August 2017

Tiffany Pang

8

1 reference

17 August 2017

David M Thomas

11

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17 August 2017

International Sarcoma Kindred Study

12

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17 August 2017

language of work or name

English

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publication date

22 July 2013

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17 August 2017

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17 August 2017

8

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17 August 2017

7

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17 August 2017

e69026

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Creative Commons Attribution 4.0 International

17 August 2017

start time

22 July 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

CONTRA: copy number analysis for targeted resequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Sarcomas in TP53 germline mutation carriers: a review of the IARC TP53 database

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

TP53 mutations in human cancers: origins, consequences, and clinical use

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Childhood predictive genetic testing for Li-Fraumeni syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

High resolution melting for mutation scanning of TP53 exons 5-8

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Cancer genetic testing and assisted reproduction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Inherited cancer in children: practical/ethical problems and challenges

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

P53 germline mutations in childhood cancers and cancer risk for carrier individuals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Germline mutations in the TP53 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

A cancer family syndrome in twenty-four kindreds

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Extraction and amplification of DNA from formalin-fixed, paraffin-embedded tissues

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Sensitivity and predictive value of criteria for p53 germline mutation screening

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS).

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718831

Relative frequency and morphology of cancers in carriers of germline TP53 mutations

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0069026

BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0069026

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0069026

Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms

21 January 2018

1 reference

12 December 2020

Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma

1 reference

12 December 2020

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

1 reference

12 December 2020

Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome

1 reference

12 December 2020

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0069026

Identifiers

DOI

1 reference

17 August 2017

0 references

1 reference

17 August 2017

1 reference