DisGeNET - a database of gene-disease associations

Li-Fraumeni Syndrome, C0085390

Variant: rs121913343 ×

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:

rs121913343

TP53

0.800

CausalMutation

CLINVAR

Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy.

24677579

2014

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs121913343

TP53

0.800

CausalMutation

CLINVAR

Gastric cancer in individuals with Li-Fraumeni syndrome.

21552135

2011

dbSNP:

rs121913343

TP53

0.800

CausalMutation

CLINVAR

Gastric cancer in individuals with Li-Fraumeni syndrome.

21552135

2011

dbSNP:

rs121913343

TP53

0.800

CausalMutation

CLINVAR

"Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation."

21535297

2011

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

CLINVAR

"Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation."

21535297

2011

dbSNP:

rs121913343

TP53

0.800

CausalMutation

CLINVAR

Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome.

20693561

2011

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

CLINVAR

Gastric cancer in individuals with Li-Fraumeni syndrome.

21552135

2011

dbSNP:

rs121913343

TP53

0.800

CausalMutation

CLINVAR

"Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation."

21535297

2011

dbSNP:

rs121913343

TP53

0.800

CausalMutation

CLINVAR

Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.

20128691

2010

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

CLINVAR

High frequency of de novo mutations in Li-Fraumeni syndrome.

19556618

2009

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

CLINVAR

EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome.

17540308

2007

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

UNIPROT

American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.

17392385

2007

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

CLINVAR

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17606709

2007

dbSNP:

rs121913343

TP53

0.800

CausalMutation

CLINVAR

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17606709

2007

dbSNP:

rs121913343

TP53

0.800

CausalMutation

CLINVAR

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17606709

2007

dbSNP:

rs121913343

TP53

0.800

CausalMutation

CLINVAR

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

12826609

2003

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

CLINVAR

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

12826609

2003

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

UNIPROT

Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.

10484981

1999

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

UNIPROT

A germline missense mutation R337C in exon 10 of the human p53 gene.

9452042

1998

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

UNIPROT

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

8825920

1995

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

UNIPROT

Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.

7887414

1995

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

CLINVAR

Distinct residues of human p53 implicated in binding to DNA, simian virus 40 large T antigen, 53BP1, and 53BP2.

7969167

1994

dbSNP:

rs121913343

TP53

0.800

CausalMutation

CLINVAR

Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings.

8479749

1993

dbSNP:

rs121913343

TP53

0.800

GeneticVariation

CLINVAR

Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings.

8479749

1993