Serena Nik‐Zainal

This study identifies RER deficiency as a new DNA repair defect in cancer, detectable through mutational signatures and linked to therapeutic vulnerabilities.

This study develops a human model of early squamous lung cancer induced by a carcinogen, identifies a novel atypical basal cell state, and shows that capivasertib prevents and reverses the abnormal phenotype.

This study identifies BCOR mutations in hiPSCs as a culture-adaptive state causing chromatin, transcriptomic, and proteomic changes, and develops a qPCR assay for detection.

The paper shows HRd is a continuum with functional and mutational heterogeneity, highlighting the need for refined molecular classification for precision interventions.

The paper investigates a BRCA2 truncating variant's effect on NF-κB-driven transcription by showing it disrupts the BRCA2-PCAF complex, reducing histone acetylation and impairing cell migration.

HRDPath predicts HRD status from HGSOC histopathology images using a multi-model deep learning architecture, achieving higher AUC and specificity than prior methods.

The paper shows Pol{theta} is recruited via RAD51 ubiquitylation to resolve clustered ICLs causing replication fork collapse in HR-proficient cells.

This study investigates neurodegeneration in Xeroderma pigmentosum using stem cell-derived neurons, identifying endoplasmic reticulum stress and UPS dysfunction as key factors and developing an early detection assay.

The paper analyzes genomic variation in hiPSCs derived from skin and blood, finding high mutation rates in fibroblast-derived lines and frequent BCOR mutations in blood-derived lines.

The paper uses genomic profiling to show that some invasive breast cancers are clonally unrelated to their preceding DCIS, suggesting DCIS may act as both a precursor and independent risk factor.

The paper analyzes indel distribution relative to transcription to show strand asymmetry and links it to DNA repair mechanisms in human cancers.

The paper shows non-B DNA motifs contribute to mutation density in cancer genomes, with secondary structures playing a causal role in mutagenesis.