Associated Papers
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Di Giosaffatte N et al.
Breast (edinburgh, Scotland), 2025
41218342 (PubMed )
Supplement: mmc4.xlsx › Foglio1
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf
MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.
Friker LL et al.
Acta Neuropathologica, 2025
39894875 (PubMed )
Supplement: 401_2025_2846_MOESM1_ESM.xlsx › Sheet1
The development of a custom RNA-sequencing panel for the identification of predictive and diagnostic biomarkers in glioma.
Shirai Y et al.
Journal of Neuro-oncology, 2024
38363490 (PubMed )
Supplement: 11060_2024_4563_MOESM1_ESM.xlsx › Supplementary_Data_2
Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.
Zhang Y et al.
Neuro-oncology, 2022
35395677 (PubMed )
Supplement: noac089_suppl_supplementary_tables_s1-s11.xlsx › Table_S5_SNV_data
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Barresi V et al.
Acta Neuropathologica Communications, 2021
34952640 (PubMed )
Supplement: 40478_2021_1304_MOESM3_ESM.xlsx › Supplementary_Table_2
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
Kang E et al.
Journal of Human Genetics, 2020
Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1.
Wang W et al.
Molecular Biology Reports, 2019
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Palma Milla C et al.
Annals of Human Genetics, 2018
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
Pros E et al.
Human Mutation, 2008
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
Griffiths S et al.
Familial Cancer, 2007
Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.
Rodriguez Almaraz E et al.
Neuro-oncology Advances, 0
40051658 (PubMed )
Supplement: vdaf024_suppl_supplementary_tables_s1-s4.xlsx › Table_S2
Select a paper to view details