Implementation of whole-genome and transcriptome sequencing into clinical cancer care

E Cuppen, O Elemento, R Rosenquist, S Nikic… - JCO Precision …, 2022 - ascopubs.org
PURPOSE The combination of whole-genome and transcriptome sequencing (WGTS) is
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 …

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 …

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 …

Current and emerging sequencing-based tools for precision cancer medicine

A Edsjö, D Gisselsson, J Staaf, L Holmquist… - Molecular Aspects of …, 2024 - Elsevier
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) …

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 …

[HTML][HTML] Baseline mutational profiles of patients with carcinoma of unknown primary origin enrolled in the CUPISCO study

CB Westphalen, J Federer-Gsponer, C Pauli… - ESMO open, 2023 - Elsevier
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 …

Molecular analysis for refractory rare cancers: sequencing battle continues–learnings for the MOSCATO-01 study

V Debien, S Vignot, C Massard, G Malouf… - Critical Reviews in …, 2023 - Elsevier
Background For patients with metastatic rare cancers, treatments are limited. How
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 …

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 …