DisGeNET - a database of gene-disease associations

Li-Fraumeni Syndrome, C0085390

Variant: rs121912666 ×

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:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.

1978757

1990

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

A germ line mutation in exon 5 of the p53 gene in an extended cancer family.

1933902

1991

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

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

2259385

1991

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

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

1737852

1992

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

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

1565144

1992

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.

8118819

1994

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

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

8825920

1995

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

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

7887414

1995

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.

9242456

1997

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Transcriptional regulation of the c-H-ras1 gene by the P53 protein is implicated in the development of human endometrial and ovarian tumours.

9662334

1998

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

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

9452042

1998

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2.

10432928

1999

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Française.

10589545

1999

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

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

10484981

1999

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.

10922393

2000

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

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

12826609

2003

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

12692171

2003

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

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

12826609

2003

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

A global suppressor motif for p53 cancer mutants.

15037740

2004

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

15604628

2004

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

BEFREE

The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors.

15977174

2005

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors.

15977174

2005

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors.

15977174

2005

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Structural basis for understanding oncogenic p53 mutations and designing rescue drugs.

17015838

2006

dbSNP: