Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.820 GeneticVariation BEFREE It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists. 17427234

2008

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
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: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer. 8425176

1993

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation. 23950206

2013

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
C 0.820 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation. 9598730

1998

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR Gain of function mutations in p53. 8099841

1993

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 9242456

1997

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
C 0.820 GeneticVariation CLINVAR Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR Unequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity. 24603336

2014

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
C 0.820 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists. 17427234

2008

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR The first documentation of Li-Fraumeni syndrome in Korea. 8527048

1995

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations. 9825943

1998

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
C 0.820 GeneticVariation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. 21601526

2011

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
C 0.820 GeneticVariation CLINVAR Complex functions of mutant p53 alleles from human prostate cancer. 11920959

2002

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
C 0.820 GeneticVariation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
C 0.820 GeneticVariation CLINVAR FOXM1 is a molecular determinant of the mitogenic and invasive phenotype of anaplastic thyroid carcinoma. 22919068

2012

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 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: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR Mutant p53: one name, many proteins. 22713868

2012

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
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
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM. 17417627

2007

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.820 CausalMutation CLINVAR Germline TP53 mutational spectrum in French Canadians with breast cancer. 25925845

2015

dbSNP: rs121912651
rs121912651
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
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