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

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

17392385

2007

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

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

20065170

2010

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

GeneticVariation

UNIPROT

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

1737852

1992

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

25394175

2015

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

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

24493721

2014

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

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

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 p53 mutations in 15 families with Li-Fraumeni syndrome.

7887414

1995

dbSNP:

rs121912666

TP53

0.820

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

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

GeneticVariation

BEFREE

Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C, which has been reported in three families with LFS.

18307025

2008

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

GeneticVariation

UNIPROT

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

9452042

1998

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

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

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

1978757

1990

dbSNP:

rs121912666

TP53

0.820

CausalMutation

CLINVAR

Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C, which has been reported in three families with LFS.

18307025

2008

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

Rapid profiling of disease alleles using a tunable reporter of protein misfolding.

22923379

2012

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