[HTML][HTML] Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors

H Kim, KY Lim, JW Park, J Kang, JK Won, K Lee… - Laboratory …, 2022 - Elsevier
Mismatch repair-deficient (MMRD) brain tumors are rare among primary brain tumors and
can be induced by germline or sporadic mutations. Here, we report 13 MMRD-associated (9 …

[HTML][HTML] Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis

AK Suwala, D Stichel, D Schrimpf, M Kloor… - Acta …, 2021 - Springer
Diffuse IDH-mutant astrocytoma mostly occurs in adults and carries a favorable prognosis
compared to IDH-wildtype malignant gliomas. Acquired mismatch repair deficiency is known …

Incidence, clinicopathologic, and genetic characteristics of mismatch repair gene-mutated glioblastomas

YA Cho, D Kim, B Lee, JH Shim, YL Suh - Journal of neuro-oncology, 2021 - Springer
Background Glioblastoma (GBM) is the most common and malignant gliomas of adults and
recur, resulting in death, despite surgery, radiotherapy, and temozolomide-based …

Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium

L Guerrini-Rousseau, P Varlet, C Colas… - Neuro-oncology …, 2019 - academic.oup.com
Background Malignant brain tumors (BT) are among the cancers most frequently associated
with constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer …

[HTML][HTML] Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a …

S Onishi, F Yamasaki, K Kuraoka, A Taguchi… - BMC Medical …, 2023 - Springer
Background Constitutional mismatch repair deficiency (CMMRD) results from a biallelic
germline pathogenic variant in a mismatch repair (MMR) gene. The most common CMMRD …

[HTML][HTML] The efficacy of DNA mismatch repair enzyme immunohistochemistry as a screening test for hypermutated gliomas

M McCord, A Steffens, R Javier, KL Kam… - Acta neuropathologica …, 2020 - Springer
A subset of gliomas has DNA repair defects that lead to hypermutated genomes. While such
tumors are resistant to alkylating chemotherapies, they may also express more mutant …

Microsatellite instability in pediatric and adult high‐grade gliomas

A Eckert, M Kloor, A Giersch, R Ahmadi… - Brain …, 2007 - Wiley Online Library
About 15% of sporadic gastrointestinal and endometrial tumors show the microsatellite
instability (MSI) phenotype because of loss of DNA mismatch repair (MMR) function. The …

Expression of DNA mismatch repair proteins MLH1, MSH2, and MSH6 in recurrent glioblastoma

AM Stark, A Doukas, HH Hugo, J Hedderich… - Neurological …, 2015 - Taylor & Francis
Abstract Objectives: Methylated O6-methylguanin-DNA-methytransferase (MGMT) promoter
methylation is associated with survival in patients with glioblastoma. Current evidence …

Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome

C Therkildsen, S Ladelund, E Rambech… - European journal of …, 2015 - Wiley Online Library
Background and purpose Brain tumors represent a rare and relatively uncharacterized
tumor type in Lynch syndrome. Methods The national Danish Hereditary Nonpolyposis …

[HTML][HTML] Mismatch repair deficiency: a temozolomide resistance factor in medulloblastoma cell lines that is uncommon in primary medulloblastoma tumours

AO Von Bueren, MD Bacolod, C Hagel… - British journal of …, 2012 - nature.com
Background: Tumours are responsive to temozolomide (TMZ) if they are deficient in O 6-
methylguanine-DNA methyltransferase (MGMT), and mismatch repair (MMR) proficient …