DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs55832599 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families.

28573494

2017

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.

27501770

2016

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

Mapping the p53 transcriptome universe using p53 natural polymorphs.

24076587

2014

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

Early onset HER2-positive breast cancer is associated with germline TP53 mutations.

21761402

2012

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.

21343334

2011

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples.

21232794

2011

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma.

21060032

2010

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements.

19367569

2009

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17606709

2007

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers.

16861262

2007

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations.

15580553

2005

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

Initiation of human astrocytoma by clonal evolution of cells with progressive loss of p53 functions in a patient with a 283H TP53 germ-line mutation: evidence for a precursor lesion.

12019170

2002

dbSNP:

rs55832599

TP53

0.700

GeneticVariation

CLINVAR

Human tumor-derived p53 proteins exhibit binding site selectivity and temperature sensitivity for transactivation in a yeast-based assay.

9627118

1998

dbSNP: