Serena Nik‐Zainal

University of Cambridge — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

84h-index58.4kcitations309works8.12yr avg
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Research Topics

Cancer Genomics and Diagnostics(180), Genetic factors in colorectal cancer(76), DNA Repair Mechanisms(51), BRCA gene mutations in cancer(35), Genomics and Rare Diseases(26)

Publications265 total

A recurrent pathogenic BRCA2 truncating variant reveals a role for BRCA2-PCAF complex in modulating NF-κB-driven transcription
Nature Communications·2025Open Access
Molecular profiling of the Basal-like intrinsic molecular subtype in primary ER-positive HER2-negative breast cancer
Genome Medicine·2025Open Access
Cross-National Radiomics Validation Using Mammography to Predict Occult Invasion in Ductal Carcinoma in Situ
Radiology·2025
Clinical potential of whole-genome data linked to mortality statistics in patients with breast cancer in the UK: a retrospective analysis
The Lancet Oncology·2025· 3 citedOpen Access
HRDPath: An Explainable Multi-Model Deep Learning Architecture for Predicting Homologous Recombination Deficiency from Histopathology Images
2025Open Access
160P Interpretation of constitutional cancer predisposition gene variants in 14,765 individuals in the 100,000 Genomes Project cancer arm
Annals of Oncology·2025
Homologous recombination deficiency in primary ER-positive and HER2-negative breast cancer
2025· 1 citedOpen Access
A redefined InDel taxonomy provides insights into mutational signatures
Nature Genetics·2025· 8 citedOpen Access
HRDetect in Ovarian Carcinoma: Stratification and Therapeutic Implications
2025Open Access
Genomic characterization of the HER2-enriched intrinsic molecular subtype in primary ER-positive HER2-negative breast cancer
Nature Communications·2025· 10 citedOpen Access
Metastatic malignant cylindroma arising on a background of digenic inheritance of <i>BRCA2</i> and <i>CYLD</i> pathogenic variants targeted with PARP inhibition
Clinical and Experimental Dermatology·2025· 1 citedOpen Access
A morphometric signature to identify ductal carcinoma in situ with a low risk of progression
npj Precision Oncology·2025Open Access
Conquering Overtreatment of DCIS: Lessons from PRECISION
Cancer Discovery·2025· 4 cited
Interpretation of Constitutional Cancer Predisposition Gene Variants in 14,765 Individuals in the 100,000 Genomes Project Cancer Arm
SSRN Electronic Journal·2025Open Access
Interpretation of Constitutional Cancer Predisposition Gene Variants in 14,765 Individuals in the 100,000 Genomes Project Cancer Arm
SSRN Electronic Journal·2025Open Access
EP028 Genetic biomarkers for the prediction of malignant transformation of oral epithelial dysplasia: A systematic review
British Journal of Oral and Maxillofacial Surgery·2024
Origins and impact of extrachromosomal DNA
Nature·2024· 112 citedOpen Access
Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility
Nature Communications·2024· 27 citedOpen Access
DCIS knowledge of women choosing between active surveillance and surgery for low-risk DCIS
The Breast·2024Open Access
Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell system
Cell Reports·2024· 5 citedOpen Access
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Frequent Co-authors

Michael R. Stratton(31), Peter J. Campbell(27), Helen Davies(22), Ludmil B. Alexandrov(21), David C. Wedge(21), Jon W. Teague(20), Adam P. Butler(19), Keiran Raine(18), P. Andrew Futreal(18), Sancha Martin(17), Andrew Menzies(15), Peter Van Loo(15), David Jones(14), Manasa Ramakrishna(13), Laura Mudie(13), Stuart McLaren(13), Patrick Tarpey(12), Andrea L. Richardson(11), Lucy Stebbings(10), Sarah O’Meara(10)