eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | li-fraumeni syndrome |
| Comorbidity | C0079419|li-fraumeni syndrome |
| Sentences | 8 |
| PubMedID- 25811670 | Inherited mutations in tp53 are the cause of li-fraumeni syndrome, which is marked by a high incidence of tumors and the development of cancer early in life [3]. |
| PubMedID- 25624886 | In addition, the chek2 and tp53 genes are associated with li-fraumeni syndrome, as >50% of families with this syndrome exhibit inherited tp53 gene mutations (14). |
| PubMedID- 22685381 | Individuals with the li-fraumeni syndrome, the manifestation of germline tp53 mutations, have an increased incidence of osteosarcoma [4, 6]. |
| PubMedID- 20482849 | Germline tp53 mutations found in patients with li-fraumeni syndrome [26] are associated with early development of tumors, while the restoration of the gene function causes regression of tumors by apoptosis and senescence [27]. |
| PubMedID- 26049273 | Purpose of review: li-fraumeni syndrome is associated with germline tp53 mutations and carriers have a high lifetime risk of cancer, the most common being sarcoma, breast cancer, brain tumors, adrenocortical carcinoma and leukemia. |
| PubMedID- 25564201 | Germline tp53 mutations are associated with li-fraumeni syndrome, an autosomal dominant disorder characterized by a predisposition to multiple early-onset cancers including breast cancer (bc), the most prevalent tumor among women. |
| PubMedID- 21601526 | Biochemical and imaging surveillance in germline tp53 mutation carriers with li-fraumeni syndrome: a prospective observational study. |
| PubMedID- 22379889 | This finding gave impetus to the development of new genotherapeutic approaches to the treatment of tp53-associated tumours in patients with li-fraumeni syndrome. |
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