DisGeNET - a database of gene-disease associations

Li-Fraumeni Syndrome, C0085390

Variant: rs148924904 ×

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:

rs148924904

TP53

0.800

CausalMutation

CLINVAR

Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.

25584008

2015

dbSNP:

rs148924904

TP53

0.800

CausalMutation

CLINVAR

Rapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing.

25757876

2015

dbSNP:

rs148924904

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:

rs148924904

TP53

0.800

CausalMutation

CLINVAR

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

21343334

2011

dbSNP:

rs148924904

TP53

0.800

CausalMutation

CLINVAR

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

21601526

2011

dbSNP:

rs148924904

TP53

0.800

CausalMutation

CLINVAR

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

19556618

2009

dbSNP:

rs148924904

TP53

0.800

CausalMutation

CLINVAR

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.

18685109

2008

dbSNP:

rs148924904

TP53

0.800

GeneticVariation

UNIPROT

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

17392385

2007

dbSNP:

rs148924904

TP53

0.800

CausalMutation

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:

rs148924904

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:

rs148924904

TP53

0.800

CausalMutation

CLINVAR

Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients.

11051239

2000

dbSNP: