Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification a
SBS18+SBS36 and SBS30 were enriched in adenomas at comparable proportions to those observed in CRCs from biallelic MUTYH and biallelic NTHL1 cases, respectively. Therefore, testing adenomas may improve the identification of biallelic cases and facilitate variant classification, ultimately enabling opportunities for CRC prevention.
Authors
- Nicholas Pachter (ORCID: https://orcid.org/0000-0002-8144-1363)
- Sharelle Joseland
- Lesley Andrews
- Steven Gallinger (ORCID: https://orcid.org/0000-0002-6998-9414)
- John L. Hopper (ORCID: https://orcid.org/0000-0002-8567-173X)
- Romy Walker (ORCID: https://orcid.org/0000-0001-8948-8417)
- Nicola Poplawski (ORCID: https://orcid.org/0000-0002-9372-3325)
- Kevin Sweet
- Emma Healey
- Mark Clendenning (ORCID: https://orcid.org/0000-0001-9852-2103)
- Christophe Rosty (ORCID: https://orcid.org/0000-0001-7671-2651)
- Giovana Tardin Torrezan (ORCID: https://orcid.org/0000-0002-8659-5329)
- Bernard J. Pope (ORCID: https://orcid.org/0000-0002-4840-1095)
- Ana Beatriz Deleame Medeiros (ORCID: https://orcid.org/0000-0002-1050-0741)
- Julia Como (ORCID: https://orcid.org/0000-0003-0620-9457)
- Daniel D. Buchanan (ORCID: https://orcid.org/0000-0003-2225-6675)
- Aung Ko Win (ORCID: https://orcid.org/0000-0002-2794-5261)
- Finlay Macrae (ORCID: https://orcid.org/0000-0003-4035-9678)
- Allan D. Spigelman
- Susan Preston
- Margaret Gleeson (ORCID: https://orcid.org/0000-0002-5624-6128)
- Khalid Mahmood (ORCID: https://orcid.org/0000-0003-0980-3646)
- Ingrid Winship (ORCID: https://orcid.org/0000-0001-8535-6003)
- Alexandra Groves
- Peter Georgeson (ORCID: https://orcid.org/0000-0002-5096-4735)
- Krzysztof Bernatowicz
- Robert C. Grant (ORCID: https://orcid.org/0000-0002-9821-0377)
- Jihoon E. Joo (ORCID: https://orcid.org/0000-0003-3331-5335)
- Mark A. Jenkins (ORCID: https://orcid.org/0000-0002-8964-6160)
- Brenely V. Murillo
Institutions
- Mount Sinai Hospital (CA)
- Royal Adelaide Hospital (AU)
- The Royal Melbourne Hospital (AU)
- University Health Network (CA)
- The University of Melbourne (AU)
- University of Toronto (CA)
- Lunenfeld-Tanenbaum Research Institute (CA)
- King Edward Memorial Hospital (AU)
- Wollongong Hospital (AU)
- Cancer Institute of New South Wales (AU)
- Princess Margaret Cancer Centre (CA)
- AC Camargo Hospital (BR)
- Cancer Australia (AU)
- Hunter Genetics (AU)
- Victorian Comprehensive Cancer Centre (AU)
- Prince of Wales Hospital (AU)
- Paediatric Integrated Cancer Service (AU)
- The Ohio State University (US)
- University of Newcastle Australia (AU)
Publication Details
- Journal
- Translational Oncology
- Published
- 2025-01-09
- DOI
- https://doi.org/10.1016/j.tranon.2024.102266
- Citations
- 4
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 5.89
Funders
- State Government of Victoria
- National Institutes of Health
- Medical Research Council
- National Health and Medical Research Council
- National Cancer Institute