Implementation of whole-genome and transcriptome sequencing into clinical cancer care
PURPOSE The combination of whole-genome and transcriptome sequencing (WGTS) is
expected to transform diagnosis and treatment for patients with cancer. WGTS is a …
expected to transform diagnosis and treatment for patients with cancer. WGTS is a …
Hereditary cancer syndromes: a comprehensive review with a visual tool
M Garutti, L Foffano, R Mazzeo, A Michelotti, L Da Ros… - Genes, 2023 - mdpi.com
Hereditary cancer syndromes account for nearly 10% of cancers even though they are often
underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in …
underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in …
NCT/DKFZ MASTER handbook of interpreting whole-genome, transcriptome, and methylome data for precision oncology
A Mock, MV Teleanu, S Kreutzfeldt, CE Heilig… - NPJ Precision …, 2023 - nature.com
Abstract Analysis of selected cancer genes has become an important tool in precision
oncology but cannot fully capture the molecular features and, most importantly …
oncology but cannot fully capture the molecular features and, most importantly …
High‐throughput molecular assays for inclusion in personalised oncology trials–State‐of‐the‐art and beyond
A Edsjö, HG Russnes, J Lehtiö… - Journal of internal …, 2024 - Wiley Online Library
In the last decades, the development of high‐throughput molecular assays has
revolutionised cancer diagnostics, paving the way for the concept of personalised cancer …
revolutionised cancer diagnostics, paving the way for the concept of personalised cancer …
Current and emerging sequencing-based tools for precision cancer medicine
Current precision cancer medicine is dependent on the analyses of a plethora of clinically
relevant genomic aberrations. During the last decade, next-generation sequencing (NGS) …
relevant genomic aberrations. During the last decade, next-generation sequencing (NGS) …
The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?
S Chiloiro, ED Capoluongo, F Costanza… - International journal of …, 2024 - mdpi.com
Several genetic investigations were conducted to identify germline and somatic mutations in
somatotropinomas, a subtype of pituitary tumors. To our knowledge, we report the first …
somatotropinomas, a subtype of pituitary tumors. To our knowledge, we report the first …
[HTML][HTML] Baseline mutational profiles of patients with carcinoma of unknown primary origin enrolled in the CUPISCO study
Background Patients with unfavorable carcinoma of unknown primary origin (CUP) have an
extremely poor prognosis of∼ 1 year or less, stressing the need for more tailored treatments …
extremely poor prognosis of∼ 1 year or less, stressing the need for more tailored treatments …
Molecular analysis for refractory rare cancers: sequencing battle continues–learnings for the MOSCATO-01 study
Background For patients with metastatic rare cancers, treatments are limited. How
systematic tumor sequencing can improve therapeutic possibilities in this population …
systematic tumor sequencing can improve therapeutic possibilities in this population …
Lynch Syndrome: From Multidisciplinary Management to Precision Prevention
A Dal Buono, A Puccini, G Franchellucci, M Airoldi… - Cancers, 2024 - mdpi.com
Simple Summary Lynch syndrome (LS) stands as the predominant inherited cancer
condition at present. Currently, surveillance is based on genotype-driven strategies and …
condition at present. Currently, surveillance is based on genotype-driven strategies and …
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology
IA Kerle, T Gross, A Kögler, JS Arnold… - NPJ Precision …, 2025 - nature.com
Precision oncology offers new cancer treatment options, yet sequencing methods vary in
type and scope. In this study, we compared whole-exome/whole-genome (WES/WGS) and …
type and scope. In this study, we compared whole-exome/whole-genome (WES/WGS) and …