eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | li-fraumeni syndrome |
| Comorbidity | C0007113|rectal cancer |
| Sentences | 10 |
| PubMedID- 25249451 | Association of dcc, mlh1, gstt1, gstm1, and tp53 gene polymorphisms with colorectal cancer in kazakhstan. |
| PubMedID- 25531293 | Materials and methods: dna damage responses after carbon-ion beam or x-ray irradiation in isogenic hct116 colorectal cancer cell lines with and without tp53 (p53+/+ and p53-/-, respectively) were analyzed as follows: cell survival by clonogenic assay, cell death modes by morphologic observation of dapi-stained nuclei, dna double-strand breaks (dsbs) by immunostaining of phosphorylated h2ax (gammah2ax), and cell cycle by flow cytometry and immunostaining of ser10-phosphorylated histone h3. |
| PubMedID- 23710310 | Characterization and prognostic value of mutations in exons 5 and 6 of the p53 gene in patients with colorectal cancers in central iran. |
| PubMedID- 23492839 | Mutation analysis of tp53 tumor suppressor gene in colorectal cancer in patients from iran (kerman province). |
| PubMedID- 24947187 | Csnk1e/ctnnb1 are synthetic lethal to tp53 in colorectal cancer and are markers for prognosis. |
| PubMedID- 26086041 | Objective: to examine the frequency of germline tp53 alterations in patients with early-onset colorectal cancer. |
| PubMedID- 23255232 | In addition, an exposure to radiation downregulated hmgb2 expression in colorectal cancer cells with an intact tp53 gene. |
| PubMedID- 24500602 | tp53 mutations were associated with rectal cancer (30% vs 18%; p = .048), younger age (14% vs 28.7%; p = .007), and men (26.4% vs 14%; p = .03). |
| PubMedID- 20110284 | These results reflect previous findings of a recent association study, where haplotypes constructed on the same tp53 variants were associated with colorectal cancer risk [polakova et al. |
| PubMedID- 25985938 | Colorectal cancer: polr2a deletion with tp53 opens a window of opportunity for therapy. |
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