Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516436
rs397516436
A 0.700 CausalMutation CLINVAR Clinical impact of TP53 alterations in adrenocortical carcinomas. 22203015

2012

dbSNP: rs397516436
rs397516436
A 0.700 CausalMutation CLINVAR Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case. 21626334

2011

dbSNP: rs397516436
rs397516436
A 0.700 CausalMutation CLINVAR Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53. 21225465

2011

dbSNP: rs397516436
rs397516436
A 0.700 CausalMutation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135

2011

dbSNP: rs397516436
rs397516436
A 0.700 CausalMutation CLINVAR Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma. 16534790

2007

dbSNP: rs397516436
rs397516436
A 0.700 CausalMutation CLINVAR Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. 16401470

2006

dbSNP: rs397516436
rs397516436
A 0.700 CausalMutation CLINVAR p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. 11479205

2001

dbSNP: rs397516436
rs397516436
A 0.700 CausalMutation CLINVAR Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. 10486318

1999

dbSNP: rs397516436
rs397516436
A 0.700 CausalMutation CLINVAR Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414

1995

dbSNP: rs397516436
rs397516436
A 0.700 CausalMutation CLINVAR Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation. 8134126

1994