Protein-truncating and rare missense variants in <i>ATM</i> and <i>CHEK2</i> and associations with cancer in UK Biobank whole-exome sequence data
PTVs in <i>ATM</i> and <i>CHEK2</i> are associated with a wide range of cancers, with the highest RR for pancreatic cancer in <i>ATM</i> PTV carriers. These findings can inform genetic counselling of carriers.
Authors
- Naomi Wilcox (ORCID: https://orcid.org/0000-0002-7709-7029)
- Marc Naven
- Toqir K Mukhtar (ORCID: https://orcid.org/0009-0001-4983-495X)
- John R. B. Perry (ORCID: https://orcid.org/0000-0001-6483-3771)
- Joe Dennis (ORCID: https://orcid.org/0000-0003-4591-1214)
- Eugene J. Gardner (ORCID: https://orcid.org/0000-0001-9671-1533)
- Douglas F. Easton (ORCID: https://orcid.org/0000-0003-2444-3247)
- Xin Yang
- Nasim Mavaddat
Institutions
- University of Cambridge (GB)
- Wellcome/MRC Institute of Metabolic Science (GB)
- MRC Epidemiology Unit (GB)
- Imperial College London (GB)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-08-29
- DOI
- https://doi.org/10.1136/jmg-2024-110127
- Citations
- 13
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 3.71
Funders
- Oregon Health and Science University
- Wellcome Trust
- Cancer Research UK
- National Institute for Health and Care Research
- Department of Health and Social Care
- University College London
- European Commission
- Knight Cancer Institute, Oregon Health and Science University
- Medical Research Council
- NIHR Cambridge Biomedical Research Centre