Associated Papers
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.
van Opijnen MP et al.
Npj Genomic Medicine, 2025
Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.
Riviere-Cazaux C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1
Therapeutic HDAC inhibition in hypermutant diffuse intrinsic pontine glioma.
Noll A et al.
Neoplasia (new York, N.y.), 2023
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › PMS2
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Hu L et al.
Npj Breast Cancer, 2022
35449176 (PubMed )
Supplement: 41523_2022_417_MOESM2_ESM.xlsx › Supplementary_data_1
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
Wang Q et al.
Journal of Medical Genetics, 2020
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
Niroula A et al.
Human Mutation, 2015
26333163 (PubMed )
Supplement: supplement_1.pdf
Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.
Wernstedt A et al.
Genes, Chromosomes & Cancer, 2012
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
Johannesma PC et al.
Clinical Genetics, 2011
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
Herkert JC et al.
European Journal of Cancer (oxford, England : 1990), 2011
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
Durno CA et al.
The American Journal of Gastroenterology, 2010
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
Wimmer K et al.
Human Genetics, 2008
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
Auclair J et al.
Human Mutation, 2007
Landscape of driver gene events, biomarkers, and druggable targets identified by whole-genome sequencing of glioblastomas.
van de Geer WS et al.
Neuro-oncology Advances, 0
35047820 (PubMed )
Supplement: vdab177_suppl_supplementary_data.xlsx › Figure5
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