Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923

2016

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis. 23538418

2013

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil. 24122735

2013

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691

2010

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. 20522432

2010

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. 18511570

2008

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. 16494995

2007

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. 16551709

2006

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. 16401470

2006

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds. 15951970

2005

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. 12885464

2003

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome. 11370630

2001

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. 10922393

2000

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning. 9667734

1998

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Simple identification of dominant p53 mutants by a yeast functional assay. 9364015

1997

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 CausalMutation CLINVAR Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 1565143

1992

dbSNP: rs28934575
rs28934575
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
A 0.700 CausalMutation CLINVAR