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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease li-fraumeni syndrome
Comorbidity C0004114|astrocytomas
Sentences 2
PubMedID- 20714900 Interestingly, all five examined astrocytomas of patients with li-fraumeni syndrome carried r132c idh1 mutations, indicating that glial/glioma precursor cells with a germline tp53 mutation carry an increased risk to acquire such a non-r132h mutation [130].
PubMedID- 22313596 In that study, 92% of who grade ii astrocytomas with tp53 mutation recurred and 57% progressed to higher grades, whereas 64% without tp53 mutation experienced recurrence and 41% had malignant progression.

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