Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE Germline p53 mutations are frequently observed in the normal DNA of cancer-prone patients with Li-Fraumeni syndrome (LFS). 8649766 1996
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE We report two cases of non-smoker patients diagnosed with EGFR-mutated lung adenocarcinoma and bearing germinal TP53 gene mutation, also known as Li-Fraumeni syndrome (LFS). 25433984 2015
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited disorder characterized by a strikingly increased risk of early-onset breast cancer, sarcomas, brain tumors and other neoplasms in individuals harboring germline TP53 mutations. 18685109 2008
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease CLINVAR Tissue microarray cytometry reveals positive impact of homeodomain interacting protein kinase 2 in colon cancer survival irrespective of p53 function. 21514416 2011
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE We report here a family with some of the characteristics of Li-Fraumeni syndrome (Li-Fraumeni-like) in which there is a 2 base pair deletion within exon 6 of TP53 in two affected individuals. 8780740 1996
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease CLINVAR p53 post-translational modification: deregulated in tumorigenesis. 20932800 2010
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. 12885464 2003
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease CLINVAR Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers. 16861262 2007
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE Analysis revealed a nonsense variant of TP53 which has been previously reported in families with sarcomas and other typical Li Fraumeni syndrome-associated cancers but never in a familial leukemia kindred. 23255406 2013
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE Family history and detection of a novel germline TP53 mutation confirmed his diagnosis of Li Fraumeni syndrome (LFS). 16333835 2007
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE Germline mutations in the tumor suppressor gene TP53 occur in the majority of families with Li-Fraumeni syndrome, who are at an increased risk for a wide spectrum of early onset cancers. 21688173 2011
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE In addition to these features of sporadic cancers, some individuals inherit mutant forms of p53 and consequently suffer from Li-Fraumeni syndrome, showing genetic predisposition to certain malignancies. 12082526 2002
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE A p53 germline point mutation was identified in one family with some findings of Li-Fraumeni syndrome, and a hemizygous germline deletion of the p16(INK4A)/p14(ARF) tumor suppressor region was demonstrated by FISH in a family with history of both astrocytoma and melanoma. 10797439 2000
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE We conclude that TP53 germline rearrangements occur as rare events, but must be considered in LFS families without detectable point TP53 mutation. 12584563 2003
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease CLINVAR In order to determine the frequency and distribution of germ-line p53 mutations in LFS, we sequenced the 10 coding exons of the p53 gene in lymphocytes and fibroblast cell lines derived from 15 families with the syndrome. 7887414 1995
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE If this proves a more general pattern of expression of mutant p53 in individuals with germline mutations, these findings may explain the paucity of tumors in individuals affected with the Li-Fraumeni syndrome. 8479743 1993
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE Using p53 heterozygous mutant epithelial cells from patients with Li-Fraumeni syndrome, we show that monoallelic mutation of p53 was associated with elevated levels of CYP1A1 and CYP1B1 under both basal conditions and following treatment with benzo[a]pyrene. 24736433 2014
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE We have determined "functional fingerprints" of sporadic breast cancer-related p53 mutants, many of which are also associated with familial cancer proneness such as the Li-Fraumeni syndrome and germline BRCA1/2 mutant-associated cancers. 20407015 2010
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE They find an increased frequency of p53 signatures, with associated evidence of DNA damage and loss of heterozygosity at the wild-type TP53 allele, but postulate, as Li-Fraumeni syndrome is not associated with an increased risk of pelvic serous carcinoma, that these events are not sufficient for the development of carcinoma. 19882674 2010
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE TP53 germline mutations are present in up to 80 % of families with classic Li-Fraumeni syndrome, and in 20-60 % of families with Li-Fraumeni like phenotypes. 27714481 2017
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease CLINVAR Prognostic significance of TP53 alterations in breast carcinoma. 8102535 1993
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE Epidermal growth factor receptor (EGFR) mutation-driven lung cancer is a rare occurrence in patients with Li-Fraumeni syndrome (LFS) characterized by germline mutations in the tumor protein 53 (TP53) gene. 29854570 2018
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease CLINVAR Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. 8118819 1994
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease CLINVAR Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: increased expression of a CD44 variant isoform after chemotherapy. 23031740 2012
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE Cells from individuals belonging to an LFS family show reduced HCR in all cases where the cells were derived from persons carrying one mutated p53 allele, whereas cells derived from members with two wild-type alleles show normal HCR. 9637247 1998