Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1210653597
rs1210653597
CDKN2A
0.010 GeneticVariation BEFREE One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome. 20455025

2010
dbSNP: rs137853007
rs137853007
CHEK2
A 0.710 GeneticVariation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737

2012
dbSNP: rs137853007
rs137853007
CHEK2
0.710 GeneticVariation BEFREE Here, we describe a CHK2 missense mutation (R145W) in another LFS family. 11719428

2001
dbSNP: rs137853007
rs137853007
CHEK2
A 0.710 GeneticVariation CLINVAR The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. 11298456

2001
dbSNP: rs137853007
rs137853007
CHEK2
A 0.710 GeneticVariation CLINVAR Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2. 12049740

2002
dbSNP: rs137853007
rs137853007
CHEK2
A 0.710 GeneticVariation CLINVAR Here, we describe a CHK2 missense mutation (R145W) in another LFS family. 11719428

2001
dbSNP: rs121908707
rs121908707
CHEK2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs555607708
rs555607708
CHEK2
A 0.700 CausalMutation CLINVAR Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 11719428

2001
dbSNP: rs555607708
rs555607708
CHEK2
A 0.700 CausalMutation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737

2012
dbSNP: rs555607708
rs555607708
CHEK2
A 0.700 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2017
dbSNP: rs555607708
rs555607708
CHEK2
A 0.700 CausalMutation CLINVAR Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 10617473

1999
dbSNP: rs555607708
rs555607708
CHEK2
A 0.700 CausalMutation CLINVAR Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers. 15520402

2004
dbSNP: rs555607708
rs555607708
CHEK2
A 0.700 CausalMutation CLINVAR The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. 19338683

2009
dbSNP: rs786202601
rs786202601
CHEK2
C 0.700 CausalMutation CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358

2016
dbSNP: rs531398630
rs531398630
CHEK2
0.010 GeneticVariation BEFREE A novel deleterious germline mutation (chr22:29091846, G->A, p.H371Y) was identified in CHEK2, a Li-Fraumeni syndrome causal gene. 27442652

2016
dbSNP: rs1057519847
rs1057519847
EGFR
0.010 GeneticVariation BEFREE Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. 24835218

2014
dbSNP: rs1057519848
rs1057519848
EGFR
0.010 GeneticVariation BEFREE Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. 24835218

2014
dbSNP: rs121434568
rs121434568
EGFR
0.010 GeneticVariation BEFREE Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. 24835218

2014
dbSNP: rs372043866
rs372043866
ERBB2
0.010 GeneticVariation BEFREE Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. 24835218

2014
dbSNP: rs138556334
rs138556334
GLI2
0.010 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: rs121913499
rs121913499
IDH1
0.020 GeneticVariation BEFREE One patient was diagnosed with multicentric isocitrate dehydrogenase 1 (IDH1) mutated diffuse astrocytomas harboring distinct IDH1 mutations, R132H and R132C; the latter mutation has been associated with Li-Fraumeni syndrome, which was subsequently confirmed in the patient's germline DNA and shown in additional cases with The Cancer Genome Atlas data. 29077933

2018
dbSNP: rs121913499
rs121913499
IDH1
0.020 GeneticVariation BEFREE Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome. 19340432

2009
dbSNP: rs121913500
rs121913500
IDH1
0.010 GeneticVariation BEFREE One patient was diagnosed with multicentric isocitrate dehydrogenase 1 (IDH1) mutated diffuse astrocytomas harboring distinct IDH1 mutations, R132H and R132C; the latter mutation has been associated with Li-Fraumeni syndrome, which was subsequently confirmed in the patient's germline DNA and shown in additional cases with The Cancer Genome Atlas data. 29077933

2018
dbSNP: rs1353702185
rs1353702185
MDM2
0.020 GeneticVariation BEFREE Previous studies have highlighted the contribution of the common functional polymorphisms p53 p.Arg72Pro and MDM2 309SNP to the risk of both common cancers and Li-Fraumeni syndrome. 21814224

2011
dbSNP: rs1353702185
rs1353702185
MDM2
0.020 GeneticVariation BEFREE Evaluation of TP53 Pro72Arg and MDM2 SNP285-SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations. 26956143

2016