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J Med Genet. 2019 Nov;56(11):718-726. doi: 10.1136/jmedgenet-2018-105820. Epub 2019 Apr 24.

Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).

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South West Thames Regional Genetics Service, St George's University Hospitals, London, UK.
Clinical Division, Genomics England, London, UK.
Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, London, UK.
West Midlands Regional Genetics Laboratories, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Genetics Laboratories, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.
William Harvey Research Institute, Queen Mary University of London, London, UK.
Contributed equally


Clinical testing with chromosomal microarray (CMA) is most commonly undertaken for clinical indications such as intellectual disability, dysmorphic features and/or congenital abnormalities. Identification of a structural aberration (SA) involving a cancer susceptibility gene (CSG) constitutes a type of incidental or secondary finding. Laboratory reporting, risk communication and clinical management of these structural aberrations with secondary implications (SASIs) is currently inconsistent. We undertake meta-analysis of 18 622 instances of CMA performed for unrelated indications in which 106 SASIs are identified involving in total 40 different CSGs. Here we present the recommendations of a joint UK working group representing the British Society of Genomic Medicine, UK Cancer Genetics Group and UK Association for Clinical Genomic Science. SASIs are categorised into four groups, defined by the type of SA and the cancer risk. For each group, recommendations are provided regarding reflex parental testing and cancer risk management.


cancer predisposition; chromosomal; microarray; microdeletion; molecular genetics

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