We are analyzing https://link.springer.com/article/10.1007/s00401-009-0528-x.

Title:
Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome | Acta Neuropathologica
Description:
Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT → CAT) being the most common (>85%). In astrocytomas, IDH1 mutations are typically co-present with, or precede, TP53 mutations. We assessed IDH1 mutations in brain tumors diagnosed in patients from three families with Li-Fraumeni syndrome. We identified IDH1 mutations in five astrocytomas that developed in carriers of a TP53 germline mutation. Without exception, all were R132C (CGT → TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. This remarkably selective occurrence of R132C mutations may reflect differences in the sequence of genetic events, with a preference for R132C mutations in astrocytes or precursor cells that already carry a germline TP53 mutation.
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Topics {✒️}

month download article/chapter infratentorial idh-mutant astrocytoma tp53 germline mutation germline tp53 mutation li-fraumeni syndrome idh1-r132h idh1/2 mutations idh1 gene full article pdf related subjects privacy choices/manage cookies p53 germline mutations p53 germline deletion brain tumors diagnosed remarkably selective occurrence selective acquisition li-fraumeni assessed idh1 mutations identified idh1 mutations european economic area increased dna methylation central nervous system soluble isocitrate dehydrogenase di patre pl probst-hensch nm population-based study diaz la jr conditions privacy policy article watanabe check access instant access idh1 r132c mutations choroid plexus tumors hiroko ohgaki accepting optional cookies integrated genomic analysis human glioblastoma multiforme parsons dw university hospital zurich high-grade gliomas brain tumors main content log journal finder publish author correspondence tp53 mutations sporadic astrocytomas accounts article log cancer res 64 related syndromes cancer res 63 article cite

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         headline:Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome
         description:Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT → CAT) being the most common (>85%). In astrocytomas, IDH1 mutations are typically co-present with, or precede, TP53 mutations. We assessed IDH1 mutations in brain tumors diagnosed in patients from three families with Li-Fraumeni syndrome. We identified IDH1 mutations in five astrocytomas that developed in carriers of a TP53 germline mutation. Without exception, all were R132C (CGT → TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. This remarkably selective occurrence of R132C mutations may reflect differences in the sequence of genetic events, with a preference for R132C mutations in astrocytes or precursor cells that already carry a germline TP53 mutation.
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      headline:Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome
      description:Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT → CAT) being the most common (>85%). In astrocytomas, IDH1 mutations are typically co-present with, or precede, TP53 mutations. We assessed IDH1 mutations in brain tumors diagnosed in patients from three families with Li-Fraumeni syndrome. We identified IDH1 mutations in five astrocytomas that developed in carriers of a TP53 germline mutation. Without exception, all were R132C (CGT → TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. This remarkably selective occurrence of R132C mutations may reflect differences in the sequence of genetic events, with a preference for R132C mutations in astrocytes or precursor cells that already carry a germline TP53 mutation.
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