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

CausalMutation

CLINVAR

Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.

24702488

2015

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations.

20805372

2010

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Mutational processes shape the landscape of TP53 mutations in human cancer.

30224644

2018

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

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

21761402

2012

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome.

19101993

2009

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

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

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

CausalMutation

CLINVAR

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

17015838

2006

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17606709

2007

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

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

19556618

2009

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.

21356188

2011

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

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

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

21343334

2011

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Small molecule induced reactivation of mutant p53 in cancer cells.

23630318

2013

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

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

21343334

2011

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

A global suppressor motif for p53 cancer mutants.

15037740

2004

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status.

20234365

2010

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.

20407015

2010

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

CausalMutation

CLINVAR

Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.

20128691

2010