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Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)
  1. Sabrina Talukdar1,
  2. Lara Hawkes2,3,
  3. Helen Hanson1,
  4. Anjana Kulkarni4,
  5. Angela F Brady5,
  6. Dominic J McMullan6,
  7. Joo Wook Ahn7,
  8. Emma Woodward8,
  9. Clare Turnbull9,10
  10. on behalf of UK Association for Clinical Genomic Science and UK Cancer Genetics Group
  1. 1 South West Thames Regional Genetics Service, St George’s University Hospitals, London, UK
  2. 2 Clinical Division, Genomics England, London, UK
  3. 3 Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
  4. 4 Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
  5. 5 North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, London, UK
  6. 6 West Midlands Regional Genetics Laboratories, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
  7. 7 Genetics Laboratories, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
  8. 8 Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK
  9. 9 Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK
  10. 10 William Harvey Research Institute, Queen Mary University of London, London, UK
  1. Correspondence to Dr Clare Turnbull, Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton SM2 5RG, UK; clare.turnbull{at}


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.

  • chromosomal
  • microarray
  • cancer predisposition
  • microdeletion
  • molecular genetics

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  • ST and LH contributed equally.

  • Contributors CT, ST and LH conducted data analysis, generated tables and figures, and drafted the manuscript. EW provided and reviewed the data of Innes et al. HH, AFB and AK formulated clinical guidance. DM and JWA developed laboratory recommendations. All authors contributed to the working group, and reviewed and contributed to the final manuscript.

  • Funding This work, and the contribution of CT, HH, AK and EW, was supported by the Cancer Research CRUK Catalyst Award, CanGene-CanVar (C61296/A27223). EW is supported by the Manchester NIHR Biomedical Research Centre (IS-BRC-1215-20007).

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement No additional data are available.

  • Patient consent for publication Not required.