Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Mutational processes shape the landscape of TP53 mutations in human cancer. 30224644

2018
dbSNP: rs28934576
rs28934576
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: rs28934576
rs28934576
TP53
0.820 GeneticVariation BEFREE Here we report on a child with Li-Fraumeni syndrome with a de novo TP53 mutation c.818G>A, who developed three malignancies at the age of 4 months, 4 and 5 years, respectively. 25787918

2015
dbSNP: rs28934576
rs28934576
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: rs28934576
rs28934576
TP53
A 0.820 CausalMutation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290

2015
dbSNP: rs28934576
rs28934576
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: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008

2015
dbSNP: rs28934576
rs28934576
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: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy. 24677579

2014
dbSNP: rs28934576
rs28934576
TP53
0.820 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Mutant p53R273H attenuates the expression of phase 2 detoxifying enzymes and promotes the survival of cells with high levels of reactive oxygen species. 22899716

2012
dbSNP: rs28934576
rs28934576
TP53
0.820 GeneticVariation BEFREE Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years. 21484931

2011
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135

2011
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome. 20693561

2011
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years. 21484931

2011
dbSNP: rs28934576
rs28934576
TP53
0.820 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170

2010
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR The tumor suppressor p53: from structures to drug discovery. 20516128

2010
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome. 17540308

2007
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR p53 dominant-negative mutant R273H promotes invasion and migration of human endometrial cancer HHUA cells. 17636407

2007
dbSNP: rs28934576
rs28934576
TP53
0.820 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385

2007
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. 16401470

2006
dbSNP: rs28934576
rs28934576
TP53
0.820 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation. 15390294

2004
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome. 15607980

2004
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. 12672316

2003