Germline TP53 mutations and Li-Fraumeni syndrome (Q34181585)

31 July 2017

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title

Germline TP53 mutations and Li-Fraumeni syndrome (English)

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31 July 2017

Varley JM

1

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31 July 2017

1 March 2003

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31 July 2017

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31 July 2017

21

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31 July 2017

313-320

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31 July 2017

3

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Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome

31 July 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

The UMD-p53 database: new mutations and analysis tools

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Excess risk of breast cancer in the mothers of children with soft tissue sarcomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Cancer in the families of children with soft tissue sarcoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Radiation-induced G1 arrest is not defective in fibroblasts from Li-Fraumeni families without TP53 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Constitutional p53 mutations associated with brain tumors in young adults

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

The Li-Fraumeni syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

TP53 Gene Mutations and 17p Deletions in Human Astrocytomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Characterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

p53 gene mutations in pediatric brain tumors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Wilms' tumor in the Li-Fraumeni cancer family syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Multiple primary cancers in families with Li-Fraumeni syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Germline p53 gene mutations in subsets of glioma patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Incidence of germ-line p53 mutations in patients with gliomas.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Constitutional p53 mutation in a non-Li-Fraumeni cancer family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Li-Fraumeni syndrome--a molecular and clinical review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Characterization of germline TP53 splicing mutations and their genetic and functional analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

High frequency of germline p53 mutations in childhood adrenocortical cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.10185

7 January 2021

Identifiers

DOI

10.1002/HUMU.10185

1 reference

release_agpng4st4jdwngn4wa57nutogy

31 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/agpng4st4jdwngn4wa57nutogy

24 November 2022

mapped directly with Wikidata item

PubMed ID

12619118

1 reference

PubMed ID

12619118