[HTML][HTML] Glioma subclassifications and their clinical significance

R Chen, M Smith-Cohn, AL Cohen, H Colman - Neurotherapeutics, 2017 - Elsevier
The impact of targeted therapies in glioma has been modest. All the therapies that have
demonstrated a significant survival benefit for gliomas in Phase III trials, including radiation …

A panoply of errors: polymerase proofreading domain mutations in cancer

E Rayner, IC Van Gool, C Palles, SE Kearsey… - Nature Reviews …, 2016 - nature.com
Although it has long been recognized that the exonucleolytic proofreading activity intrinsic to
the replicative DNA polymerases Pol δ and Pol ε is essential for faithful replication of DNA …

Mutational burden, immune checkpoint expression, and mismatch repair in glioma: implications for immune checkpoint immunotherapy

TR Hodges, M Ott, J Xiu, Z Gatalica, J Swensen… - Neuro …, 2017 - academic.oup.com
Background. Despite a multiplicity of clinical trials testing immune checkpoint inhibitors, the
frequency of expression of potential predictive biomarkers is unknown in glioma. Methods. In …

Immunogenomics of Hypermutated Glioblastoma: A Patient with Germline POLE Deficiency Treated with Checkpoint Blockade Immunotherapy

TM Johanns, CA Miller, IG Dorward, C Tsien, E Chang… - Cancer discovery, 2016 - AACR
We present the case of a patient with a left frontal glioblastoma with primitive
neuroectodermal tumor features and hypermutated genotype in the setting of a POLE …

Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study

E Domingo, L Freeman-Mills, E Rayner… - The lancet …, 2016 - thelancet.com
Background Precision cancer medicine depends on defining distinct tumour subgroups
using biomarkers that may occur at very modest frequencies. One such subgroup comprises …

Integrated genomic characterization of IDH1-mutant glioma malignant progression

H Bai, AS Harmancı, EZ Erson-Omay, J Li, S Coşkun… - Nature …, 2016 - nature.com
Gliomas represent approximately 30% of all central nervous system tumors and 80% of
malignant brain tumors. To understand the molecular mechanisms underlying the malignant …

[HTML][HTML] Role of POLE and POLD1 in familial cancer

P Mur, S García-Mulero, J Del Valle… - Genetics in …, 2020 - Elsevier
Purpose Germline pathogenic variants in the exonuclease domain (ED) of polymerases
POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC) …

Clinical management and tumor surveillance recommendations of inherited mismatch repair deficiency in childhood

U Tabori, JR Hansford, MI Achatz, CP Kratz… - Clinical Cancer …, 2017 - AACR
Replication proofreading is crucial to avoid mutation accumulation in dividing cells. In
humans, proofreading and replication repair is maintained by the exonuclease domains of …

Integrated genomic analyses of de novo pathways underlying atypical meningiomas

AS Harmancı, MW Youngblood, VE Clark… - Nature …, 2017 - nature.com
Meningiomas are mostly benign brain tumours, with a potential for becoming atypical or
malignant. On the basis of comprehensive genomic, transcriptomic and epigenomic …

[HTML][HTML] Molecular features of cancers exhibiting exceptional responses to treatment

DA Wheeler, N Takebe, T Hinoue, KA Hoadley… - Cancer cell, 2021 - cell.com
A small fraction of cancer patients with advanced disease survive significantly longer than
patients with clinically comparable tumors. Molecular mechanisms for exceptional …