Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780070
rs587780070
TP53
0.800 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: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs587780070
rs587780070
TP53
0.800 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: rs587780070
rs587780070
TP53
A 0.800 CausalMutation CLINVAR EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature. 25433984

2015
dbSNP: rs587780070
rs587780070
TP53
A 0.800 CausalMutation CLINVAR Mutant p53 confers chemoresistance in non-small cell lung cancer by upregulating Nrf2. 26497680

2015
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170

2010
dbSNP: rs587780070
rs587780070
TP53
A 0.800 CausalMutation CLINVAR Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. 18511570

2008
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385

2007
dbSNP: rs587780070
rs587780070
TP53
A 0.800 CausalMutation CLINVAR The over-expression of p53 H179Y residue mutation causes the increase of cyclin A1 and Cdk4 expression in HELF cells. 17530187

2007
dbSNP: rs587780070
rs587780070
TP53
A 0.800 CausalMutation CLINVAR [Germline tp53 neomutation in a patient with Li-Fraumeni syndrome and pancreatic adenocarcinoma]. 16633321

2006
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. 12692171

2003
dbSNP: rs587780070
rs587780070
TP53
A 0.800 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs587780070
rs587780070
TP53
A 0.800 CausalMutation CLINVAR p53 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis. 12726864

2003
dbSNP: rs587780070
rs587780070
TP53
A 0.800 CausalMutation CLINVAR Tumour p53 mutations exhibit promoter selective dominance over wild type p53. 11896595

2002
dbSNP: rs587780070
rs587780070
TP53
A 0.800 CausalMutation CLINVAR A novel p53 mutant retained functional activity in lung carcinomas. 12509279

2002
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 10484981

1999
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT A germline missense mutation R337C in exon 10 of the human p53 gene. 9452042

1998
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414

1995
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 8825920

1995
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. 1737852

1992
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 1565144

1992
dbSNP: rs587780070
rs587780070
TP53
0.800 GeneticVariation UNIPROT A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902

1991