Next generation sequencing (NGS): a revolutionary technology in pharmacogenomics and personalized medicine in cancer

S Morganti, P Tarantino, E Ferraro, P D'Amico… - … research and onco …, 2019 - Springer
Following the completion of the Human Genome Project in 2003, research in oncology has
progressively focused on the sequencing of cancer genomes, with the aim of better …

Molecular diagnostics in clinical oncology

AP Sokolenko, EN Imyanitov - Frontiers in molecular biosciences, 2018 - frontiersin.org
There are multiple applications of molecular tests in clinical oncology. Mutation analysis is
now routinely utilized for the diagnosis of hereditary cancer syndromes. Healthy carriers of …

Somatic genomic testing in patients with metastatic or advanced cancer: ASCO provisional clinical opinion

D Chakravarty, A Johnson, J Sklar… - Journal of Clinical …, 2022 - ascopubs.org
PURPOSE An ASCO provisional clinical opinion offers timely clinical direction to ASCO's
membership following publication or presentation of potentially practice-changing data from …

Molecularly guided therapy versus chemotherapy after disease control in unfavourable cancer of unknown primary (CUPISCO): an open-label, randomised, phase 2 …

A Krämer, T Bochtler, C Pauli, KK Shiu, N Cook… - The Lancet, 2024 - thelancet.com
Background Patients with unfavourable subset cancer of unknown primary (CUP) have a
poor prognosis when treated with standard platinum-based chemotherapy. Whether first-line …

Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity

L Möhrmann, M Werner, M Oleś, A Mock… - Nature …, 2022 - nature.com
The benefit of molecularly-informed therapies in cancer of unknown primary (CUP) is
unclear. Here, we use comprehensive molecular characterization by whole genome/exome …

DNA methylation profiling to determine the primary sites of metastatic cancers using formalin-fixed paraffin-embedded tissues

S Zhang, S He, X Zhu, Y Wang, Q Xie, X Song… - Nature …, 2023 - nature.com
Identifying the primary site of metastatic cancer is critical to guiding the subsequent
treatment. Approximately 3–9% of metastatic patients are diagnosed with cancer of unknown …

CUP-AI-Dx: A tool for inferring cancer tissue of origin and molecular subtype using RNA gene-expression data and artificial intelligence

Y Zhao, Z Pan, S Namburi, A Pattison, A Posner… - …, 2020 - thelancet.com
Background Cancer of unknown primary (CUP), representing approximately 3-5% of all
malignancies, is defined as metastatic cancer where a primary site of origin cannot be found …

Complexity of genome sequencing and reporting: next generation sequencing (NGS) technologies and implementation of precision medicine in real life

S Morganti, P Tarantino, E Ferraro, P D'Amico… - Critical reviews in …, 2019 - Elsevier
The finalization of the Human Genome Project in 2003 paved the way for a deeper
understanding of cancer, favouring a faster progression towards “personalized” medicine …

Site-specific and targeted therapy based on molecular profiling by next-generation sequencing for cancer of unknown primary site: a nonrandomized phase 2 clinical …

H Hayashi, Y Takiguchi, H Minami, K Akiyoshi… - JAMA …, 2020 - jamanetwork.com
Importance Although profiling of gene expression and gene alterations by next-generation
sequencing (NGS) to predict the primary tumor site and guide molecularly targeted therapy …

Cancer of unknown primary

MS Lee, HK Sanoff - Bmj, 2020 - bmj.com
Cancers of unknown primary (CUPs) are histologically confirmed, metastatic malignancies
with a primary tumor site that is unidentifiable on the basis of standard evaluation and …