DisGeNET - a database of gene-disease associations

Li-Fraumeni Syndrome, C0085390

Variant: rs138729528 ×

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:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

25927356

2015

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations.

24573247

2014

dbSNP:

rs138729528

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:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

A common p53 mutation (R175H) activates c-Met receptor tyrosine kinase to enhance tumor cell invasion.

23792586

2013

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

p53 mutations in cancer.

23263379

2013

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

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

21761402

2012

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

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

21343334

2011

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

22006311

2011

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

The tumor suppressor p53: from structures to drug discovery.

20516128

2010

dbSNP:

rs138729528

TP53

0.800

GeneticVariation

UNIPROT

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

17392385

2007

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17606709

2007

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.

16401470

2006

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome.

15607980

2004

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome.

15607981

2004

dbSNP:

rs138729528

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:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

The IARC TP53 database: new online mutation analysis and recommendations to users.

12007217

2002

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

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.

11370630

2001

dbSNP:

rs138729528

TP53

0.800

GeneticVariation

UNIPROT

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

10484981

1999

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

Identification of human p53 mutations with differential effects on the bax and p21 promoters using functional assays in yeast.

9546439

1998

dbSNP:

rs138729528

TP53

0.800

GeneticVariation

UNIPROT

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

9452042

1998

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

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

8825920

1995

dbSNP:

rs138729528

TP53

0.800

GeneticVariation

UNIPROT

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

7887414

1995

dbSNP:

rs138729528

TP53

0.800

GeneticVariation

UNIPROT

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

8825920

1995

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

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

8164043

1994

dbSNP:

rs138729528

TP53

0.800

CausalMutation

CLINVAR

Analysis of the most representative tumour-derived p53 mutants reveals that changes in protein conformation are not correlated with loss of transactivation or inhibition of cell proliferation.

8062826

1994