Acquired copy number variation in prostate tumours: a review of common somatic copy number alterations, how they are formed and their clinical utility

Dannielle E. O’Malley, Kelsie Raspin, Phillip E. Melton, Kathryn P. Burdon, Joanne L. Dickinson, Liesel M. FitzGerald

Research output: Contribution to journalReview articlepeer-review


Prostate cancer is one of the most commonly diagnosed cancers in men and unfortunately, disease will progress in up to a third of patients despite primary treatment. Currently, there is a significant lack of prognostic tests that accurately predict disease course; however, the acquisition of somatic chromosomal variation in the form of DNA copy number variants may help understand disease progression. Notably, studies have found that a higher burden of somatic copy number alterations (SCNA) correlates with more aggressive disease, recurrence after surgery and metastasis. Here we will review the literature surrounding SCNA formation, including the roles of key tumour suppressors and oncogenes (PTEN, BRCA2, NKX3.1, ERG and AR), and their potential to inform diagnostic and prognostic clinical testing to improve predictive value. Ultimately, SCNAs, or inherited germline alterations that predispose to SCNAs, could have significant clinical utility in diagnostic and prognostic tests, in addition to guiding therapeutic selection.

Original languageEnglish
Pages (from-to)347-357
Number of pages11
JournalBritish Journal of Cancer
Issue number3
Early online date9 Nov 2023
Publication statusPublished - 24 Feb 2024

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