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Serena Nik-Zainal

University of Cambridge

SCHOLARLY PAPERS

3

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277

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Scholarly Papers (3)

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1.

Interpretation of Constitutional Cancer Predisposition Gene Variants in 14,765 Individuals in the 100,000 Genomes Project Cancer Arm

Downloads 157 (488,442)

Interpretation of Constitutional Cancer Predisposition Gene Variants in 14,765 Individuals in the 100,000 Genomes Project Cancer Arm

Number of pages: 26 Posted: 03 Jul 2025
James Whitworth, Valerie Yawen Wang, Daniella Black, Helen Davies, Andrea Degasperi, Diana Prepelita and Serena Nik-Zainal
University of Cambridge, NHS Foundation Trust - St. Georges University Hospitals, University of Cambridge, University of Cambridge, University of Cambridge, University of Cambridge and University of Cambridge
Downloads 81 (819,435)

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Interpretation of Constitutional Cancer Predisposition Gene Variants in 14,765 Individuals in the 100,000 Genomes Project Cancer Arm

Number of pages: 26 Posted: 09 Jul 2025
James Whitworth, Valerie Yawen Wang, Daniella Black, Helen Davies, Andrea Degasperi, Diana Prepelita and Serena Nik-Zainal
University of Cambridge, NHS Foundation Trust - St. Georges University Hospitals, University of Cambridge, University of Cambridge, University of Cambridge, University of Cambridge and University of Cambridge
Downloads 76 (863,736)

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2.

Large Scale Analysis of Whole Genome Sequencing Data from Formalin-Fixed Paraffin-Embedded Cancer Specimens Demonstrates Preservation of Clinical Utility Enhancing Accessibility to Genomics

Number of pages: 20 Posted: 16 Oct 2023
Shadi Basyuni, Laura Heskin, Andrea Degasperi, Daniella Black, Gene Ching Chiek Koh, Lucia Chmelova, Giuseppe Rinaldi, Steven Bell, Louise Grybowicz, Greg Elgar, Yasin Memari, Pauline Robbe, Zoya Kingsbury, Carlos Caldas, Jean Abraham, Anna Schuh, J. Louise Jones, PARTNER Trial Group, Personalised Breast Cancer Program Group, Marc Tischkowitz, Matthew Brown, Helen Davies and Serena Nik-Zainal
University of Cambridge, University of Cambridge, University of Cambridge, University of Cambridge, University of Cambridge, University of Cambridge, University of Cambridge, University of Cambridge - Department of Public Health and Primary Care, University of Cambridge, Genomics England, University of Cambridge, University of Oxford, Illumina Cambridge Ltd., University of Cambridge, University of Cambridge, University of Oxford, Queen Mary University of London - Centre for Tumour Biology, Independent, Independent, University of Cambridge, Genomics England, University of Cambridge and University of Cambridge
Downloads 109 (645,052)

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Whole-Genome Sequencing, Formalin-Fixed Paraffin-Embedded

3.

Mutational and Functional Heterogeneity of Homology-Directed Repair Deficiency and Clinical Implications

Number of pages: 39 Posted: 16 Jun 2026
Salome Jingchen Zhao, Gene Ching Chiek Koh, Rachel Brough, Dragomir B. Krastev, Veenu Tripathi, Feifei Song, Sheyne Choi, Daniella Black, Soraya Boushaki, Cherif Badja, Rebecca A. Dagg, Giuseppe Rinaldi, Ping Jing Toong, Andrea Degasperi, Rohit Prakash, Scott Shooter, Jan Czarnecki, Yasin Memari, Helen Davies, Stephen J. Pettitt, Madalena Tarsounas, Maria Jasin, Andrew Tutt, André Nussenzweig, Christopher Lord, Serena Nik-Zainal and Sneak Peek Administrator
University of Cambridge, University of Cambridge, Institute of Cancer Research (ICR), Institute of Cancer Research (ICR), National Institutes of Health, Bethesda, Institute of Cancer Research (ICR), Institute of Cancer Research (ICR), University of Cambridge, University of Cambridge, University of Cambridge, University of Oxford, University of Cambridge, University of Cambridge, University of Cambridge, Memorial Sloan Kettering Cancer Center, University of Cambridge, University of Cambridge, University of Cambridge, University of Cambridge, Institute of Cancer Research (ICR), University of Oxford, Memorial Sloan Kettering Cancer Center - Developmental Biology Program, Institute of Cancer Research (ICR), National Institutes of Health, Bethesda, Institute of Cancer Research (ICR), University of Cambridge and Independent
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Mutational signatures, CRISPR screen, homologous recombination repair, synthetic lethality, isogenic cell lines, PARP inhibitor resistance, therapeutic vulnerability, BRCA, DNA repair, mutagenesis