Gene: TP53 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912651
rs121912651
TP53
0.820 GeneticVariation UNIPROT Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR A young woman with bilateral breast cancer: identifying a genetic cause and implications for management. 23667202

2013
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM. 17417627

2007
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Germline TP53 mutational spectrum in French Canadians with breast cancer. 25925845

2015
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Here, we report a family with LFS harboring a germline TP53 mutation (R248W) located in the functional domain of the protein that binds to the minor groove of the DNA. 19378321

2009
dbSNP: rs121912651
rs121912651
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: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. 1631137

1992
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990
dbSNP: rs121912651
rs121912651
TP53
C 0.820 GeneticVariation CLINVAR Screening the p53 status of human cell lines using a yeast functional assay. 9290701

1997
dbSNP: rs121912651
rs121912651
TP53
0.820 GeneticVariation BEFREE Here, we report a family with LFS harboring a germline TP53 mutation (R248W) located in the functional domain of the protein that binds to the minor groove of the DNA. 19378321

2009
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385

2007
dbSNP: rs121912666
rs121912666
TP53
C 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
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
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
rs121912666
TP53
G 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
rs121912666
TP53
0.820 GeneticVariation UNIPROT Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. 1737852

1992
dbSNP: rs121912666
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
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. 10922393

2000
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Rapid profiling of disease alleles using a tunable reporter of protein misfolding. 22923379

2012
dbSNP: rs121912666
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
rs121912666
TP53
G 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
rs121912666
TP53
C 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
rs121912666
TP53
C 0.820 CausalMutation CLINVAR A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations. 20805372

2010
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Mutational processes shape the landscape of TP53 mutations in human cancer. 30224644

2018
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Early onset HER2-positive breast cancer is associated with germline TP53 mutations. 21761402

2012