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Topic · Cancer Research · Biochemistry, Genetics and Molecular Biology

Cancer Genomics and Diagnostics

OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.

4 papers

Ultra-deep duplex sequencing reveals unique features of somatic evolution in the normal tissues of a family with Li-Fraumeni syndrome

Hunter Colegrove, Marianne E. Dubard-Gault, Henry Marshall, Brendan F. Kohrn, Thomas Horace Smith, Zachary K. Norgaard, Fang Yin Lo, Elizabeth K. Schmidt, Jacob E. Higgins, Charles C. Valentine, Desiree A. Marshall, John I. Clark, Eric Quentin Konnick, Jesse J. Salk, Marshall S. Horwitz, , Rosa Ana Risques

Duplex sequencing of a Li-Fraumeni family links germline TP53 p.R181H to higher neutral-region mutagenesis and weaker blood TP53 selection, plus recurrent p.R248Q/W hits across proband tissues.

bioRxiv · Aug 20, 2026 · PreprintCancer Biology✦ In-depth digest

Minimally invasive monitoring of clonal evolution through integrated single cell and ctDNA analysis

Farhia Kabeer, Matteo Lepur, Branden J. Lynch, Emilia Hurtado, Elena Zaikova, Janine Senz, Vinci Au, Caroline Baril, Ding Ma, Sheila Nicholson, Gavin Ha, JESSICA N. MCALPINE, Samuel A. J. R. Aparicio, David D. Huntsman, Alexandre Bouchard‐Côté, , Andrew J. L. Roth

cfClone, a Bayesian model, deconvolves cfDNA whole-genome sequencing using scWGS-derived haplotype-specific clone copy-number profiles to estimate tumour fraction, clonal prevalence, and flag missed clones.

bioRxiv · Aug 19, 2026 · PreprintCancer Biology✦ In-depth digest

Dynamic Monitoring of Antibody Drug Conjugates Targeting TROP2 or HER2 in Breast Cancer using Circulating Tumor Cells

Avanish Mishra, Rachel O. Abelman, Quinn E. Cunneely, Victor R. Putaturo, Akansha Deshpande, Remy Bell, Elizabeth M. Seider, Katherine H. Xu, Mythreayi Shan, J. Kelly, Shih‐Bo Huang, Olivia Rieur, Justine Knape, Kaustav A. Gopinathan, Kruthika Kikkeri, , Shyamala Maheswaran

In metastatic breast cancer on TROP2- or HER2-targeting antibody-drug conjugates, early CTC disappearance or steep decline tracked response, while CTC epitope levels neither predicted benefit nor vanished at resistance.

Proceedings of the National Academy of Sciences · Jun 17, 2026Peer-reviewedCancer Biology✦ In-depth digest

Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment

Marcos Díaz‐Gay, Raviteja Vangara, Mark D. Barnes, Xi Wang, S. M. Ashiqul Islam, Ian Vermes, Stephen Oscar Duke, Nithish Bharadhwaj Narasimman, Ting Yang, Zichen Jiang, Sarah Moody, Sergey Senkin, Paul Brennan, Michael R. Stratton, Ludmil B. Alexandrov

SigProfilerAssignment refits known substitution, doublet, indel and copy-number mutational signatures to single samples and probabilistically to individual mutations, outperforming four refitting tools on 2,700 synthetic genomes.

Bioinformatics · Dec 1, 2023Peer-reviewedBioinformatics✦ In-depth digest