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Review
. 2021 Jun;254(2):109-120.
doi: 10.1002/path.5666. Epub 2021 May 7.

A common classification framework for histone sequence alterations in tumours: an expert consensus proposal

Henning Leske  1   2 , Raymond Dalgleish  3 , Alexander J Lazar  4 , Guido Reifenberger  5 , Ian A Cree  6
Affiliations
Review

A common classification framework for histone sequence alterations in tumours: an expert consensus proposal

Henning Leske et al. J Pathol. 2021 Jun.

Abstract

The description of genetic alterations in tumours is of increasing importance. In human genetics, and in pathology reports, sequence alterations are given using the human genome variation society (HGVS) guidelines for the description of such variants. However, there is less adherence to these guidelines for sequence variations in histone genes. Due to early cleavage of the N-terminal methionine in most histones, the description of histone sequence alterations follows their own nomenclature and differs from the HGVS-compliant numbering by omitting this first amino acid. Next generation sequencing reports, however, follow the HGVS guidelines and as a result, an unambiguous description of sequence variants in histones cannot be provided. The coexistence of these two nomenclatures leads to confusions for pathologists, oncologists, and researchers. This review provides an overview of tumour entities with sequence alterations of the H3-3A gene (HGNC ID = HGNC:4764), highlights the problems associated with the coexistence of these two nomenclatures, and proposes a standard for the reporting of histone sequence variants that allows an unambiguous description of these variants according to HGVS principles. We hope that scientific journals will adopt the new notation, and that both geneticists and pathologists will include it in their reports. © 2021 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.

Keywords: classification; histone; mutation; neoplasm; nomenclature; sequence; tumour.

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References

    1. den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat 2016; 37: 564-569.
    1. Deans ZC, Fairley JA, den Dunnen JT, et al. HGVS nomenclature in practice: an example from the United Kingdom National External Quality Assessment Scheme. Hum Mutat 2016; 37: 576-578.
    1. Ogino S, Gulley ML, den Dunnen JT, et al. Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn 2007; 9: 1-6.
    1. den Dunnen JT, Paalman MH. Standardizing mutation nomenclature: why bother? Hum Mutat 2003; 22: 181-182.
    1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405-424.

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