Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology
IAEM van Belzen, A Schönhuth, P Kemmeren… - NPJ Precision …, 2021 - nature.com
Cancer is generally characterized by acquired genomic aberrations in a broad spectrum of
types and sizes, ranging from single nucleotide variants to structural variants (SVs). At least …
types and sizes, ranging from single nucleotide variants to structural variants (SVs). At least …
Precision cancer medicine: Concepts, current practice, and future developments
A Edsjö, L Holmquist, B Geoerger… - Journal of Internal …, 2023 - Wiley Online Library
Precision cancer medicine is a multidisciplinary team effort that requires involvement and
commitment of many stakeholders including the society at large. Building on the success of …
commitment of many stakeholders including the society at large. Building on the success of …
MGMT genomic rearrangements contribute to chemotherapy resistance in gliomas
B Oldrini, N Vaquero-Siguero, Q Mu, P Kroon… - Nature …, 2020 - nature.com
Temozolomide (TMZ) is an oral alkylating agent used for the treatment of glioblastoma and
is now becoming a chemotherapeutic option in patients diagnosed with high-risk low-grade …
is now becoming a chemotherapeutic option in patients diagnosed with high-risk low-grade …
[HTML][HTML] Towards immunotherapy for pediatric brain tumors
SS Wang, P Bandopadhayay, MR Jenkins - Trends in immunology, 2019 - cell.com
Pediatric brain tumors are the leading cause of childhood cancer-related death.
Immunotherapy is a powerful new approach for treating some refractory cancers; applying …
Immunotherapy is a powerful new approach for treating some refractory cancers; applying …
Protein kinase C fusion proteins are paradoxically loss of function in cancer
Within the AGC kinase superfamily, gene fusions resulting from chromosomal
rearrangements have been most frequently described for protein kinase C (PKC), with gene …
rearrangements have been most frequently described for protein kinase C (PKC), with gene …
Druggable genome in attention deficit/hyperactivity disorder and its co-morbid conditions. New avenues for treatment
TA Hegvik, K Waløen, SK Pandey, SV Faraone… - Molecular …, 2021 - nature.com
Abstract Attention-Deficit/Hyperactivity Disorder (ADHD) is a common neurodevelopmental
disorder with only symptomatic care available. Genome-wide association (GWA) studies can …
disorder with only symptomatic care available. Genome-wide association (GWA) studies can …
NTRK rearrangements in a subset of NF1-related malignant peripheral nerve sheath tumors as novel actionable target
LS Hiemcke-Jiwa, MT Meister, E Martin… - Acta …, 2023 - Springer
Malignant peripheral nerve sheath tumor (MPNST), often arising from a (plexiform)
neurofibroma, is one of the hallmark complications of neurofibromatosis type 1 (NF1) …
neurofibroma, is one of the hallmark complications of neurofibromatosis type 1 (NF1) …
Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS
IAEM van Belzen, C Cai, M van Tuil, S Badloe… - BMC cancer, 2023 - Springer
Background Gene fusions are important cancer drivers in pediatric cancer and their accurate
detection is essential for diagnosis and treatment. Clinical decision-making requires high …
detection is essential for diagnosis and treatment. Clinical decision-making requires high …
[HTML][HTML] Larotrectinib response in NTRK3 fusion-driven diffuse high-grade glioma
D König, J Hench, S Frank, L Dima, I Bratic Hench… - Pharmacology, 2022 - karger.com
High-grade glioma (HGG) and glioblastoma are the most common adult malignant brain
tumors. The standard treatment consists of surgical resection followed by …
tumors. The standard treatment consists of surgical resection followed by …
Divergent HLA variations and heterogeneous expression but recurrent HLA loss-of- heterozygosity and common HLA-B and TAP transcriptional silencing across …
WC Lim, ME Marques Da Costa, K Godefroy… - Frontiers in …, 2024 - frontiersin.org
The human leukocyte antigen (HLA) system is a major factor controlling cancer
immunosurveillance and response to immunotherapy, yet its status in pediatric cancers …
immunosurveillance and response to immunotherapy, yet its status in pediatric cancers …