DisGeNET - a database of gene-disease associations

Li-Fraumeni Syndrome, C0085390

Variant: rs587782596 ×

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:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

28486781

2017

dbSNP:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

Recurrent TP53 missense mutation in cancer patients of Arab descent.

27866339

2017

dbSNP:

rs587782596

TP53

0.800

CausalMutation

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:

rs587782596

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:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

Increased oxidative metabolism in the Li-Fraumeni syndrome.

23484829

2013

dbSNP:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma.

23175693

2013

dbSNP:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

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

21343334

2011

dbSNP:

rs587782596

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:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome.

21059199

2010

dbSNP:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

DNA binding cooperativity of p53 modulates the decision between cell-cycle arrest and apoptosis.

20471942

2010

dbSNP:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17606709

2007

dbSNP:

rs587782596

TP53

0.800

GeneticVariation

UNIPROT

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

17392385

2007

dbSNP:

rs587782596

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:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.

12917626

2003

dbSNP:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

Tumour p53 mutations exhibit promoter selective dominance over wild type p53.

11896595

2002

dbSNP:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements.

11429705

2001

dbSNP:

rs587782596

TP53

0.800

GeneticVariation

UNIPROT

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

10484981

1999

dbSNP:

rs587782596

TP53

0.800

GeneticVariation

UNIPROT

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

9452042

1998

dbSNP:

rs587782596

TP53

0.800

GeneticVariation

UNIPROT

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

7887414

1995

dbSNP:

rs587782596

TP53

0.800

GeneticVariation

UNIPROT

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

8825920

1995

dbSNP:

rs587782596

TP53

0.800

GeneticVariation

UNIPROT

Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.

1565144

1992

dbSNP:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

Screening for germ line TP53 mutations in breast cancer patients.

1591732

1992

dbSNP:

rs587782596

TP53

0.800

GeneticVariation

UNIPROT

Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.

1737852

1992

dbSNP:

rs587782596

TP53

0.800

CausalMutation

CLINVAR

Inherited p53 gene mutations in breast cancer.

1581912

1992

dbSNP:

rs587782596

TP53

0.800

GeneticVariation

UNIPROT

Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.

2259385

1991