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a catalog of biological databases

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Database information

IARC TP53 ( IARC TP53 germ-line database)

General information

Description: A database has been created to collect information on families carrying a germ-line mutation in the TP53 gene and on families affected with Li-Fraumeni syndromes [Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome (LFL)].
Year founded: 2003
Last update:
Version:
Accessibility:
Manual:
Unaccessible
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Country/Region: United Kingdom
Data type:
DNA
Data object:
Database category:
Major organism:
Keywords:

Contact information

University/Institution: The Institute of Cancer Research
Address: Cancer Genetics Team, Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, United Kingdom.
City:
Province/State:
Country/Region: United Kingdom
Contact name (PI/Team): Rosalind A. Eeles
Contact email (PI/Helpdesk): ros@icr.ac.uk

Related Database

Record metadata

Created on: 2018-02-09
Curated by:
Mengyu Pan [2018-09-21]
Qi Wang [2018-02-22]

Ranking

All databases:
670/4692 (85.742%)
Genotype phenotype and variation:
86/635 (86.614%)
670
Total Rank
199
Citations
11.706
z-index

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Publications

14583457
Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. [PMID: 14583457]
Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA.

A database has been created to collect information on families carrying a germ-line mutation in the TP53 gene and on families affected with Li-Fraumeni syndromes [Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome (LFL)]. Data from the published literature have been included. The database is available online at http://www.iarc.fr/p53, as part of the IARC TP53 Database. The analysis of the 265 families/individuals that have been included thus far has revealed several new findings. In classical LFS families with a germ-line TP53 mutation (83 families), the mean age of onset of breast cancer was significantly lower than in LFS families (16 families) without a TP53 mutation (34.6 versus 42.5 years; P = 0.0035). In individuals with a TP53 mutation, a correlation between the genotype and phenotype was found. Brain tumors were associated with missense TP53 mutations located in the DNA-binding loop that contact the minor groove of DNA (P = 0.01), whereas adrenal gland carcinomas were associated with missense mutations located in the loops opposing the protein-DNA contact surface (P = 0.003). Finally, mutations likely to result in a null phenotype (absence of the protein or loss of function) were associated with earlier onset brain tumors (P = 0.004). These observations have clinical implications for genetic testing and tumor surveillance in LFS/LFL families.

Cancer Res. 2003:63(20) | 199 Citations (from Europe PMC, 2020-09-19)