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Lucia Chmelova

ORCID: 0000-0001-9905-0785
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About
Contact & Profiles
A5071477987
Research Areas
  • Cancer Genomics and Diagnostics
  • Genetic factors in colorectal cancer
  • Genomics and Rare Diseases
  • Pancreatic and Hepatic Oncology Research
  • Biosimilars and Bioanalytical Methods
  • Lung Cancer Treatments and Mutations

National Institute for Health Research
 2024

University of Cambridge
 2022-2024

Cancer Research UK Cambridge Center
 2022-2024

 Substitution mutational signatures in whole-genome–sequenced cancers in the UK population
OPENALEX - Publications 
Andrea Degasperi Xueqing Zou Tauanne Dias Amarante Andrea Martinez-Martinez Ching Chiek Koh and 73 more João M.L. Dias Laura Heskin Lucia Chmelova Giuseppe Rinaldi Valerie Ya Wen Wang Arjun S. Nanda Aaron Bernstein Sophie Momen Jamie Young D. Perez-Gil Yasin Memari Cherif Badja Scott Shooter Jan Czarnecki Matthew A. Brown Helen Davies Serena Nik‐Zainal John C. Ambrose P. Arumugam R. Bevers Marta Bleda F. Boardman-Pretty C. R. Boustred Helen Brittain M. J. Caulfield G. C. Chan Tom Fowler Adam Giess Angela Hamblin Stephen Henderson Tim Hubbard R. Jackson J. Louise Jones Dalia Kasperavičiūtė Melis Kayikci Athanasios Kousathanas L. Lahnstein S. E. A. Leigh Ivone Leong F. J. Lopez F. Maleady-Crowe Meriel McEntagart Federico Minneci Loukas Moutsianas Michael Mueller Nirupa Murugaesu Anna C. Need Peter O’Donovan Chris A. Odhams Christine Patch D. Perez-Gil Mariana Buongermino Pereira J. Pullinger T. Rahim Augusto Rendon T. Rogers K. Savage K. Sawant Richard H. Scott Afshan Siddiq A. Sieghart Sean Smith Alona Sosinsky Alexander Stuckey M. Tanguy Ana Lisa Taylor Tavares Elaine Thomas Simon R. Thompson Arianna Tucci M. J. Welland Elena Williams Katarzyna Witkowska Scott Wood

Whole-genome sequencing (WGS) permits comprehensive cancer genome analyses, revealing mutational signatures, imprints of DNA damage and repair processes that have arisen in each patient's cancer. We performed signature analyses on 12,222 WGS tumor-normal matched pairs, from patients recruited via the UK National Health Service. contrasted our results to two independent datasets, International Cancer Genome Consortium (ICGC) Hartwig Foundation, involving 18,640 cancers total. Our add 40...

10.1126/science.abl9283 article EN Science 2022-04-21
 Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility
OPENALEX - Publications 
Shadi Basyuni Laura Heskin Andrea Degasperi Daniella Black Ching Chiek Koh and 16 more 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 Marc Tischkowitz Matthew A. Brown Helen Davies Serena Nik‐Zainal

10.1038/s41467-024-51577-2 article EN cc-by Nature Communications 2024-09-04
 Large Scale Analysis of Whole Genome Sequencing Data from Formalin-Fixed Paraffin-Embedded Cancer Specimens Demonstrates Preservation of Clinical Utility Enhancing Accessibility to Genomics
OPENALEX - Publications 
Shadi Basyuni Laura Heskin Andrea Degasperi Daniella Black Gene Ching Chiek Koh and 18 more 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 A. Brown Helen Davies Serena Nik‐Zainal

Background: Whole genome sequencing (WGS) provides comprehensive, individualised cancer genomic information per patient. However, for clinical histopathological diagnostics, tumour biopsies are routinely formalin-fixed and paraffin-embedded (FFPE). This causes considerable DNA damage, historically precluding FFPE samples from WGS which is preferentially conducted on fresh frozen (FF) samples. Yet, substantial logistical demands associated with snap freezing makes it non-viable in...

10.2139/ssrn.4601305 preprint EN 2023-01-01
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