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Germline TP53 mutations and Li-Fraumeni syndrome
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12619118
retrieved
31 July 2017
review article
1 reference
stated in
Europe PubMed Central
title
Germline TP53 mutations and Li-Fraumeni syndrome
(English)
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stated in
Europe PubMed Central
PubMed ID
12619118
retrieved
31 July 2017
author name string
Varley JM
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12619118
retrieved
31 July 2017
publication date
1 March 2003
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stated in
Europe PubMed Central
PubMed ID
12619118
retrieved
31 July 2017
published in
Human Mutation
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stated in
Europe PubMed Central
PubMed ID
12619118
retrieved
31 July 2017
volume
21
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stated in
Europe PubMed Central
PubMed ID
12619118
retrieved
31 July 2017
page(s)
313-320
1 reference
stated in
Europe PubMed Central
PubMed ID
12619118
retrieved
31 July 2017
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
12619118
retrieved
31 July 2017
cites work
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome
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The UMD-p53 database: new mutations and analysis tools
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Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53.
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Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.
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Relative frequency and morphology of cancers in carriers of germline TP53 mutations
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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
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Radiation-induced G1 arrest is not defective in fibroblasts from Li-Fraumeni families without TP53 mutations
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Crossref
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Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing
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Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome
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Crossref
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Constitutional p53 mutations associated with brain tumors in young adults
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The Li-Fraumeni syndrome
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7 January 2021
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TP53 Gene Mutations and 17p Deletions in Human Astrocytomas
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7 January 2021
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Characterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome.
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A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer
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Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma
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7 January 2021
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p53 gene mutations in pediatric brain tumors
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7 January 2021
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Wilms' tumor in the Li-Fraumeni cancer family syndrome
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7 January 2021
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Multiple primary cancers in families with Li-Fraumeni syndrome
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7 January 2021
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Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma
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7 January 2021
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Germline p53 gene mutations in subsets of glioma patients.
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Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?
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Incidence of germ-line p53 mutations in patients with gliomas.
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Crossref
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7 January 2021
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Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome.
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Crossref
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7 January 2021
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Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10185
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7 January 2021
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Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10185
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7 January 2021
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Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10185
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7 January 2021
based on heuristic
inferred from DOI database lookup
Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10185
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7 January 2021
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Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
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Crossref
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7 January 2021
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Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10185
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7 January 2021
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Constitutional p53 mutation in a non-Li-Fraumeni cancer family
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10185
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7 January 2021
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An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10185
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7 January 2021
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Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10185
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7 January 2021
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p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis
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Analysis of Li–Fraumeni syndrome and Li–Fraumeni-like families for germline mutations in Bcl10
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10185
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7 January 2021
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Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10185
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7 January 2021
based on heuristic
inferred from DOI database lookup
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10185
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10185
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10185
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7 January 2021
based on heuristic
inferred from DOI database lookup
Li-Fraumeni syndrome--a molecular and clinical review
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10185
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10185
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10185
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10185
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of germline TP53 splicing mutations and their genetic and functional analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10185
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
High frequency of germline p53 mutations in childhood adrenocortical cancer
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10185
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Française.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10185
retrieved
7 January 2021
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Identifiers
DOI
10.1002/HUMU.10185
1 reference
stated in
Europe PubMed Central
PubMed ID
12619118
retrieved
31 July 2017
Fatcat ID
release_agpng4st4jdwngn4wa57nutogy
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Fatcat
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https://api.fatcat.wiki/v0/release/agpng4st4jdwngn4wa57nutogy
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24 November 2022
based on heuristic
mapped directly with Wikidata item
PubMed ID
12619118
1 reference
stated in
Europe PubMed Central
PubMed ID
12619118
retrieved
31 July 2017
ResearchGate publication ID
227511606
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