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Serena Nik-Zainal
University of Cambridge
125Publications
39H-index
16.5kCitations
Publications 125
Newest
#1Francesco Maura (University of Milan)H-Index: 13
#2Andrea Degasperi (University of Cambridge)H-Index: 9
Last.Niccolo Bolli (University of Milan)H-Index: 29
view all 15 authors...
Analysis of mutational signatures is becoming routine in cancer genomics, with implications for pathogenesis, classification, prognosis, and even treatment decisions. However, the field lacks a consensus on analysis and result interpretation. Using whole-genome sequencing of multiple myeloma (MM), chronic lymphocytic leukemia (CLL) and acute myeloid leukemia, we compare the performance of public signature analysis tools. We describe caveats and pitfalls of de novo signature extraction and fittin...
3 CitationsSource
#1Francesco Maura (University of Milan)H-Index: 13
#2Andrea Degasperi (University of Cambridge)H-Index: 9
Last.Niccolo Bolli (University of Milan)H-Index: 29
view all 15 authors...
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#1H. R. Davies (University of Cambridge)H-Index: 6
#2Kirsty Hodgson (Newcastle University)H-Index: 3
Last.Neil Rajan (Newcastle University)H-Index: 10
view all 10 authors...
Patients with CYLD cutaneous syndrome (CCS; syn. Brooke-Spiegler syndrome) carry germline mutations in the tumor suppressor CYLD and develop multiple skin tumors with diverse histophenotypes. Here, we comprehensively profile the genomic landscape of 42 benign and malignant tumors across 13 individuals from four multigenerational families and discover recurrent mutations in epigenetic modifiers DNMT3A and BCOR in 29% of benign tumors. Multi-level and microdissected sampling strikingly reveal that...
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#1Arie B. Brinkman (Radboud University Nijmegen)H-Index: 29
#2Serena Nik-Zainal (University of Cambridge)H-Index: 39
Last.Hendrik G. Stunnenberg (Radboud University Nijmegen)H-Index: 89
view all 29 authors...
Global loss of DNA methylation and CpG island (CGI) hypermethylation are key epigenomic aberrations in cancer. Global loss manifests itself in partially methylated domains (PMDs) which extend up to megabases. However, the distribution of PMDs within and between tumor types, and their effects on key functional genomic elements including CGIs are poorly defined. We comprehensively show that loss of methylation in PMDs occurs in a large fraction of the genome and represents the prime source of DNA ...
2 CitationsSource
#1Serena Nik-Zainal (University of Cambridge)H-Index: 39
1 CitationsSource
#1Serena Nik-Zainal (University of Cambridge)H-Index: 39
#2Benjamin A. Hall (University of Cambridge)H-Index: 16
B.A.H. is supported by the Royal Society (grant no. UF130039). S.N.-Z. is supported by a Cancer Research UK (CRUK) Advanced Clinician Scientist Award (C60100/A23916) and the Josef Steiner Foundation. Both authors are supported by a Medical Research Council (MRC) Grant-in-Aid to the MRC Cancer unit.
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#1S. Shooter (University of Cambridge)
#2J. Czarnecki (University of Cambridge)
Last.Serena Nik-Zainal (University of Cambridge)H-Index: 39
view all 3 authors...
Abstract Background The somatic mutations found through sequencing a whole tumour genome are the aggregate outcome of one or multiple mutational processes. Each of these processes leaves a characteristic imprint, or mutational signature, on the genome. The final mutational profile is determined by the pattern of exposure of each of these mutational processes. Deconstructing the signature composition of a tumour’s mutational profile provides insights into the biological processes that drive it. T...
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#1Johan Staaf (Lund University)H-Index: 37
#2Dominik Glodzik (Lund University)H-Index: 9
Last.Serena Nik-Zainal (University of Cambridge)H-Index: 39
view all 21 authors...
Whole-genome sequencing (WGS) brings comprehensive insights to cancer genome interpretation. To explore the clinical value of WGS, we sequenced 254 triple-negative breast cancers (TNBCs) for which associated treatment and outcome data were collected between 2010 and 2015 via the population-based Sweden Cancerome Analysis Network–Breast (SCAN-B) project (ClinicalTrials.gov ID:NCT02306096). Applying the HRDetect mutational-signature-based algorithm to classify tumors, 59% were predicted to have ho...
2 CitationsSource
#1Sophie Momen (University of Cambridge)
#2Sophie Momen (Guy's and St Thomas' NHS Foundation Trust)H-Index: 1
Last.Serena Nik-ZainalH-Index: 39
view all 12 authors...
“Mutational signatures” are patterns of mutations that report DNA damage and subsequent repair processes that have occurred. Whole-genome sequencing (WGS) can provide additional information to standard diagnostic techniques and can identify therapeutic targets. A 32-yr-old male with xeroderma pigmentosum developed metastatic angiosarcoma that was unresponsive to three lines of conventional sarcoma therapies. WGS was performed on his primary cancer revealing a hypermutated tumor, including clonal...
1 CitationsSource
#1Lindsay Angus (Erasmus University Medical Center)H-Index: 1
#2Marcel Smid (Erasmus University Medical Center)H-Index: 34
Last.John W. M. Martens (Erasmus University Medical Center)H-Index: 54
view all 20 authors...
The whole-genome sequencing of prospectively collected tissue biopsies from 442 patients with metastatic breast cancer reveals that, compared to primary breast cancer, tumor mutational burden doubles, the relative contributions of mutational signatures shift and the mutation frequency of six known driver genes increases in metastatic breast cancer. Significant associations with pretreatment are also observed. The contribution of mutational signature 17 is significantly enriched in patients pretr...
4 CitationsSource
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