Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516435
rs397516435
A 0.700 CausalMutation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 27501770

2016

dbSNP: rs397516435
rs397516435
A 0.700 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237

2016

dbSNP: rs397516435
rs397516435
A 0.700 CausalMutation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400

2013

dbSNP: rs397516435
rs397516435
A 0.700 CausalMutation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135

2011

dbSNP: rs397516435
rs397516435
A 0.700 CausalMutation CLINVAR TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset. 19468865

2009

dbSNP: rs397516435
rs397516435
A 0.700 CausalMutation CLINVAR Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age. 17567834

2007

dbSNP: rs397516435
rs397516435
A 0.700 CausalMutation CLINVAR Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin. 15381368

2004

dbSNP: rs397516435
rs397516435
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: rs397516435
rs397516435
A 0.700 CausalMutation CLINVAR Novel germline mutation of the p53 tumor suppressor gene in a child with incidentally discovered adrenal cortical carcinoma. 7978053

1994