DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Li-Fraumeni Syndrome ×

Variant: rs121912651 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

CausalMutation

CLINVAR

Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer.

8425176

1993

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

CausalMutation

CLINVAR

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17606709

2007

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

UNIPROT

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

24493721

2014

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

CausalMutation

CLINVAR

Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation.

23950206

2013

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

UNIPROT

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

1933902

1991

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

CLINVAR

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

21343334

2011

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

UNIPROT

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

1737852

1992

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

CausalMutation

CLINVAR

Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.

9598730

1998

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

CausalMutation

CLINVAR

Gain of function mutations in p53.

8099841

1993

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

CausalMutation

CLINVAR

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

9242456

1997

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

CLINVAR

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

1978757

1990

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

BEFREE

It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists.

17427234

2008

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

CausalMutation

CLINVAR

Unequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity.

24603336

2014

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

CLINVAR

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

12826609

2003

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

UNIPROT

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

7887414

1995

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

CausalMutation

CLINVAR

It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists.

17427234

2008

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

CausalMutation

CLINVAR

The first documentation of Li-Fraumeni syndrome in Korea.

8527048

1995

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

UNIPROT

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

10484981

1999

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

CausalMutation

CLINVAR

Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations.

9825943

1998

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

CLINVAR

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

21601526

2011

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

CLINVAR

Complex functions of mutant p53 alleles from human prostate cancer.

11920959

2002

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

CLINVAR

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17606709

2007

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

CLINVAR

FOXM1 is a molecular determinant of the mitogenic and invasive phenotype of anaplastic thyroid carcinoma.

22919068

2012

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

UNIPROT

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

9452042

1998

dbSNP:

rs121912651

TP53

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

0.820

GeneticVariation

UNIPROT

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

17392385

2007