DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs121912651 ×

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:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma.

29025599

2017

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

28724667

2017

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

28472496

2017

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

26787237

2016

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome.

27374712

2016

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Germline TP53 mutational spectrum in French Canadians with breast cancer.

25925845

2015

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition.

24651015

2014

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Association of TP53 polymorphisms on the risk of Wilms tumor.

24038938

2014

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations.

24573247

2014

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients.

23172776

2013

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations.

22265402

2012

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

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

21343334

2011

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

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

20128691

2010

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome.

19378321

2009

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17606709

2007

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients.

11051239

2000

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

The first documentation of Li-Fraumeni syndrome in Korea.

8527048

1995

dbSNP:

rs121912651

TP53

0.700

CausalMutation

CLINVAR

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

1978757

1990