The <scp>WHO</scp> Classification of Genetic Tumour Syndromes: Considerations for Genetics

The WHO Classification of Tumours is used widely by histopathologists and other disciplines as it provides an internationally agreed taxonomy of neoplastic disorders. Now published online and in print, it has often included genetic tumour syndromes (GTS) relevant to particular organs, as suggested by the editorial board. This highlighted the lack of a systematic classification of GTS, providing international standards for their diagnosis and a basis for research. The need for this was established by a series of meetings, leading to the adoption of a hierarchical classification of GTS based on the cellular mechanism affected, the molecular pathway involved, the clinical syndrome and the gene defects present. The major cellular mechanisms affected were identified as: growth factor receptors and related pathways; oxidative stress response and metabolism; cell cycle and apoptosis; DNA repair and genomic stability; telomere maintenance; epigenetic drivers and chromatin; RNA regulation and protein regulation. Assembly of the classification emphasised current gaps in knowledge, together with the need for further research. The new classification highlights the relationships between some genetic syndromes and provides an internationally agreed framework for the incorporation of new information as it becomes available.

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Publication Details

Journal
Clinical Genetics
Published
2026-06-16
DOI
https://doi.org/10.1111/cge.70195
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Ian A. Cree, Mark J. Arends, Raymond Dalgleish, Elspeth A. Bruford et al.
Clinical Genetics
Genetic factors in colorectal cancer
article

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Ian A. Cree, Mark J. Arends, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Michael F. Walsh, William D. Foulkes, Ada Hamosh, Anthony James Gill, Mark A. Rubin, Alexander J. Lazar, Harshima Disvini Wijesinghe, Erika Denton, Ian M. Frayling, Gabrielle Goldman‐Lévy, Katia RM Leite, Dilani Lokuhetty, S M Pfister, Joseph D. Khoury
article en

Abstract

The WHO Classification of Tumours is used widely by histopathologists and other disciplines as it provides an internationally agreed taxonomy of neoplastic disorders. Now published online and in print, it has often included genetic tumour syndromes (GTS) relevant to particular organs, as suggested by the editorial board. This highlighted the lack of a systematic classification of GTS, providing international standards for their diagnosis and a basis for research. The need for this was established by a series of meetings, leading to the adoption of a hierarchical classification of GTS based on the cellular mechanism affected, the molecular pathway involved, the clinical syndrome and the gene defects present. The major cellular mechanisms affected were identified as: growth factor receptors and related pathways; oxidative stress response and metabolism; cell cycle and apoptosis; DNA repair and genomic stability; telomere maintenance; epigenetic drivers and chromatin; RNA regulation and protein regulation. Assembly of the classification emphasised current gaps in knowledge, together with the need for further research. The new classification highlights the relationships between some genetic syndromes and provides an internationally agreed framework for the incorporation of new information as it becomes available.

Clinical Genetics
University of Bern (CH), Memorial Sloan Kettering Cancer Center (US), The University of Texas MD Anderson Cancer Center (US), Johns Hopkins University (US), University of Leicester (GB), Universidade de São Paulo (BR), Baylor College of Medicine (US), University of Cambridge (GB), Royal North Shore Hospital (AU), Norfolk and Norwich University Hospitals NHS Foundation Trust (GB), Edinburgh Cancer Research (GB), Microsoft (Brazil) (BR), Hopp Children's Cancer Center Heidelberg (DE), Centre international de recherche sur le cancer (FR), McGill University (CA), University of Nebraska Medical Center (US), Cardiff University (GB)
Partnerships for the goals
Openalex Percentile: Top 7%
Genetic factors in colorectal cancer
DOISourceOpenAlex
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