The role of molecular profiling in the diagnosis and management of metastatic undifferentiated cancer of unknown primary✰: molecular profiling of metastatic cancer of …

JK Dermawan, BP Rubin - Seminars in diagnostic pathology, 2021 - Elsevier
Cancer of unknown primary (CUP) refers to metastatic tumors for which the primary tumor of
origin cannot be determined at the time of diagnosis, despite extensive clinicopathologic …

Automated molecular-image cytometry and analysis in modern oncology

R Weissleder, H Lee - Nature Reviews Materials, 2020 - nature.com
Diagnostic methods for initial diagnosis and patient stratification for treatment are key to
modern oncology, but many challenges remain. In developed countries, advances in early …

Copy number alteration signatures as biomarkers in cancer: a review

CG Doran, SR Pennington - Biomarkers in Medicine, 2022 - Taylor & Francis
Within certain cancers, extensive copy number alterations (CNAs) contribute to a complex
and heterogenic genomic profile. This makes it difficult to understand and unravel the …

[HTML][HTML] Nanoparticle-aided glycovariant assays to bridge biomarker performance and ctDNA results

K Gidwani, H Kekki, J Terävä, T Soukka… - Molecular aspects of …, 2020 - Elsevier
Numerous immunoassay based cancer biomarkers established in the 1970 and 1980′ ies
are widely used in clinical routine. Initial expectations of biomarkers such as CEA, CA125 …

[HTML][HTML] Computational methods summarizing mutational patterns in cancer: promise and limitations for clinical applications

A Patterson, A Elbasir, B Tian, N Auslander - Cancers, 2023 - mdpi.com
Simple Summary Cancer is a complex disease that develops over time through accumulated
mutations in DNA that transform normal cells into a cancerous state. To fully capture the …

A comprehensive comparison of tools for fitting mutational signatures

M Medo, M Medová - arXiv preprint arXiv:2310.01562, 2023 - arxiv.org
Mutational signatures connect characteristic mutational patterns in the genome with
biological processes that take place in the tumor tissues. Analysis of mutational signatures …

[HTML][HTML] CloneSig can jointly infer intra-tumor heterogeneity and mutational signature activity in bulk tumor sequencing data

J Abécassis, F Reyal, JP Vert - Nature communications, 2021 - nature.com
Systematic DNA sequencing of cancer samples has highlighted the importance of two
aspects of cancer genomics: intra-tumor heterogeneity (ITH) and mutational processes …

The mutagenic consequences of defective DNA repair

E Németh, D Szüts - DNA repair, 2024 - Elsevier
Multiple separate repair mechanisms safeguard the genome against various types of DNA
damage, and their failure can increase the rate of spontaneous mutagenesis. The …

[HTML][HTML] Relating mutational signature exposures to clinical data in cancers via signeR 2.0

RD Drummond, A Defelicibus, M Meyenberg… - BMC …, 2023 - Springer
Background Cancer is a collection of diseases caused by the deregulation of cell processes,
which is triggered by somatic mutations. The search for patterns in somatic mutations, known …

[HTML][HTML] Mutational signatures for breast cancer diagnosis using artificial intelligence

P Odhiambo, H Okello, A Wakaanya, C Wekesa… - Journal of the Egyptian …, 2023 - Springer
Background Breast cancer is the most common female cancer worldwide. Its diagnosis and
prognosis remain scanty, imprecise, and poorly documented. Previous studies have …