|
rs587780072
|
|
Li-Fraumeni Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, three mutations are described for the first time in ACC, and one, which occurred combined with a second mutation (R202C) on the same allele, has never been reported before in the context of LFS.
|
22170717 |
2012 |
|
rs587780728
|
|
Li-Fraumeni Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
One family with LFS with a germline TP53 D49H mutation has previously been reported.
|
28902083 |
2018 |
|
rs730882028
|
|
Li-Fraumeni Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome.
|
30239254 |
2018 |
|
rs766786605
|
|
Li-Fraumeni Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome.
|
30239254 |
2018 |
|
rs78378222
|
|
Li-Fraumeni Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we identified rs78378222 (A > C), a rare variant that is located in the 3' untranslated region (3' UTR) of TP53, in 7 probands (5.4%) of a cohort from LFS/LFL patients without TP53 germline mutations in the coding regions.
|
26823150 |
2016 |
|
rs770374782
|
|
Li-Fraumeni Syndrome
|
|
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 |
|
rs770374782
|
|
Li-Fraumeni Syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome.
|
19340432 |
2009 |
|
rs1131691014
|
|
Li-Fraumeni Syndrome
|
|
0.030 |
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 |
|
rs1131691014
|
|
Li-Fraumeni Syndrome
|
|
0.030 |
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 |
|
rs1131691014
|
|
Li-Fraumeni Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage.
|
20198344 |
2010 |
|
rs878854066
|
|
Li-Fraumeni Syndrome
|
|
0.030 |
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 |
|
rs878854066
|
|
Li-Fraumeni Syndrome
|
|
0.030 |
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 |
|
rs878854066
|
|
Li-Fraumeni Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage.
|
20198344 |
2010 |
|
rs1042522
|
|
Li-Fraumeni Syndrome
|
|
0.040 |
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 |
|
rs1042522
|
|
Li-Fraumeni Syndrome
|
|
0.040 |
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 |
|
rs1042522
|
|
Li-Fraumeni Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage.
|
20198344 |
2010 |
|
rs1042522
|
|
Li-Fraumeni Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
A common single nucleotide repeat (snp) in exon 3 (rs1042522) and deletion sequencing chromatograms in exon 4 were examined in combination to estimate LOH in both LFS tubes and advanced serous carcinomas from the general population.
|
19834951 |
2010 |
|
rs1057517840
|
|
Li-Fraumeni Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The p53 gene in pediatric therapy-related leukemia and myelodysplasia.
|
8639798 |
1996 |
|
rs1057517983
|
|
Li-Fraumeni Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs1057519985
|
|
Li-Fraumeni Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
|
rs1057519985
|
|
Li-Fraumeni Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
|
rs1057519985
|
|
Li-Fraumeni Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
|
10484981 |
1999 |
|
rs1057519985
|
|
Li-Fraumeni Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A germline missense mutation R337C in exon 10 of the human p53 gene.
|
9452042 |
1998 |
|
rs1057519985
|
|
Li-Fraumeni Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
|
8825920 |
1995 |
|
rs1057519985
|
|
Li-Fraumeni Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
|
7887414 |
1995 |