eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | li-fraumeni syndrome |
| Comorbidity | C1140680|ovarian cancer |
| Sentences | 12 |
| PubMedID- 21535297 | Apparently "brca-related" breast and ovarian cancer patient with germline tp53 mutation. |
| PubMedID- 24089029 | This potentially explains our earlier observation of improved survival of ovarian cancer patients with tp53 psnvs7 and encourages further investigation of the site as a prognostic biomarker. |
| PubMedID- 22395499 | Codon 72 polymorphism of p53 gene was correlated with susceptibility for ovarian cancer. |
| PubMedID- 25644622 | In addition, the frequency of aupd was significantly higher in ovarian cancer samples with tp53 mutations, with aupd at tp53, brca1 or brca2 loci, with aupd on 17q (a-h) or 22q (b) regions (additional file 8: table s4 and additional file 9: figure s5). |
| PubMedID- 21552211 | The aim of this study was to clarify the relationship of the immunohistochemical expression of p53 with the mutational status of the tp53 gene in ovarian cancer. |
| PubMedID- 24195060 | Methods: epithelial ovarian cancer cell lines with known tp53 status were analyzed for thbs1 gene expression using affymetrix u133 microarrays and promoter methylation by pyrosequencing. |
| PubMedID- 20229506 | However, a recent review of 12 studies that sequenced tp53 in ovarian cancer found variable mutation frequencies of 15–80% [5]. |
| PubMedID- 25886734 | A closer look to some of them (table 2) indicate that they represent very well studied gene disease associations between breast and ovarian cancer with tp53, brca1, brca2, esr1, erbb2, and also associations of specific genes to generic cancer terms (neoplasms). |
| PubMedID- 21952824 | Meta-analysis shows significant association of the tp53 arg72pro with ovarian cancer risk. |
| PubMedID- 26215675 | The objective of this study was to determine if ovarian cancer patients with a tp53 mutation grouped by location of the mutation within the p53 protein structure exhibit differential survival outcomes. |
| PubMedID- 20169171 | Indicated that nab had a significant growth-suppressing effect on human endometrial and ovarian cancer cells irrespective of their p53 gene status [34]. |
| PubMedID- 21713447 | Additionally, ovarian cancer patients with mutated p53 gene treated with paclitaxel better respond to the therapy (86% of them) than patients with natural p53 gene (47%) [10]. |
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