European LeukemiaNet laboratory recommendations for the diagnosis and management of chronic myeloid leukemia

NCP Cross, T Ernst, S Branford, JM Cayuela… - Leukemia, 2023 - nature.com
From the laboratory perspective, effective management of patients with chronic myeloid
leukemia (CML) requires accurate diagnosis, assessment of prognostic markers, sequential …

EANO guideline on rational molecular testing of gliomas, glioneuronal, and neuronal tumors in adults for targeted therapy selection

D Capper, G Reifenberger, PJ French… - Neuro …, 2023 - academic.oup.com
The mainstay of treatment for adult patients with gliomas, glioneuronal and neuronal tumors
consists of combinations of surgery, radiotherapy, and chemotherapy. For many systemic …

Quantifying the expanding landscape of clinical actionability for patients with cancer

SP Suehnholz, MH Nissan, H Zhang, R Kundra… - Cancer Discovery, 2024 - AACR
There is a continuing debate about the proportion of cancer patients that benefit from
precision oncology, attributable in part to conflicting views as to which molecular alterations …

Genomic profiling for clinical decision making in lymphoid neoplasms

L De Leval, AA Alizadeh, PL Bergsagel… - Blood, The Journal …, 2022 - ashpublications.org
With the introduction of large-scale molecular profiling methods and high-throughput
sequencing technologies, the genomic features of most lymphoid neoplasms have been …

Molecular diagnostic tools for the World Health Organization (WHO) 2021 classification of gliomas, glioneuronal and neuronal tumors; an EANO guideline

F Sahm, S Brandner, L Bertero, D Capper… - Neuro …, 2023 - academic.oup.com
In the 5th edition of the WHO CNS tumor classification (CNS5, 2021), multiple molecular
characteristics became essential diagnostic criteria for many additional CNS tumor types …

Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR

CM Boßelmann, C Leu, T Brünger, L Hoffmann… - Nature …, 2024 - nature.com
Lesional focal epilepsy (LFE) is a common and severe seizure disorder caused by
epileptogenic lesions, including malformations of cortical development (MCD) and low …

Interpreting and integrating genomic tests results in clinical cancer care: Overview and practical guidance

R Casolino, PA Beer, D Chakravarty… - CA: a cancer journal …, 2024 - Wiley Online Library
The last decade has seen rapid progress in the use of genomic tests, including gene panels,
whole‐exome sequencing, and whole‐genome sequencing, in research and clinical cancer …

[HTML][HTML] Molecular profiling in cholangiocarcinoma: a practical guide to next-generation sequencing

A Stenzinger, A Vogel, U Lehmann, A Lamarca… - Cancer Treatment …, 2024 - Elsevier
Cholangiocarcinomas (CCA) are a heterogeneous group of tumors that are classified as
intrahepatic, perihilar, or distal according to the anatomic location within the biliary tract …

Insights on variant analysis in silico tools for pathogenicity prediction

FAO Garcia, ES Andrade, EI Palmero - Frontiers in genetics, 2022 - frontiersin.org
Molecular biology is currently a fast-advancing science. Sequencing techniques are getting
cheaper, but the interpretation of genetic variants requires expertise and computational …

CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase

K Krysiak, AM Danos, J Saliba… - Nucleic acids …, 2023 - academic.oup.com
Abstract CIViC (Clinical Interpretation of Variants in Cancer; civicdb. org) is a crowd-sourced,
public domain knowledgebase composed of literature-derived evidence characterizing the …