{
  "abstract": "A structural aberration (SA) with secondary implications (SASIs) involving a cancer susceptibility gene is identified on chromosome microarray in approximately 0.6% tests performed on index cases. Identifying a SASI involving a high actionability cancer susceptibility gene (HA-CSG) has important genetic counselling and management implications for the individual and families. In 2019, a UK working group published recommendations for laboratories reporting SASIs involving HA-CSG. This study aims to evaluate whether these recommendations are reflected in the current UK practice. Data from a total of 63 cases of SASIs involving HA-CSGs from nine UK genetics centres were included for audit. The results have shown that 92% of microarray reports have the HA-CSG clearly named on the report, with 70% of reports having the anticipated increased risk of cancer stated. 73% of patients were appropriately managed for the associated cancer risk. For SAs where management was not given as per recommended guidelines, the identified variants were all within-gene duplications, which may represent the uncertainty around their potential to disrupt gene function and their association with true increased cancer susceptibility. This study demonstrates the practical implications of identifying a SA involving a HA-CSG and suggests room for improvement in clinical practice in reporting and management.",
  "authors": [
    {
      "affiliations": [
        "Northern Genetics Service, Newcastle upon Tyne, England, UK"
      ],
      "name": "Kate Richardson"
    },
    {
      "affiliations": [
        "West Midlands Regional Clinical Genetics Service, Birmingham, UK"
      ],
      "name": "Emma Douglas"
    },
    {
      "affiliations": [
        "Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"
      ],
      "name": "Nour Elkhateeb"
    },
    {
      "affiliations": [
        "Sheffield Clinical Genetic Service, Sheffield, UK"
      ],
      "name": "Laura Furness"
    },
    {
      "affiliations": [
        "Leeds Clinical Genomics Service, Leeds, UK"
      ],
      "name": "Abigail Green"
    },
    {
      "affiliations": [
        "Northern Genetics Service, Newcastle upon Tyne, England, UK"
      ],
      "name": "Elizabeth Harris"
    },
    {
      "affiliations": [
        "Liverpool Women’s Hospital Liverpool Centre for Genomic Medicine, Liverpool, England, UK"
      ],
      "name": "Rachel Hart"
    },
    {
      "affiliations": [
        "Leeds Clinical Genomics Service, Leeds, UK"
      ],
      "name": "Verity Hartill"
    },
    {
      "affiliations": [
        "West Midlands Regional Clinical Genetics Service, Birmingham, UK"
      ],
      "name": "Monisha Shanmugasundaram"
    },
    {
      "affiliations": [
        "Sheffield Clinical Genomics Service, Sheffield, UK"
      ],
      "name": "Alison Stewart"
    },
    {
      "affiliations": [
        "Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK"
      ],
      "name": "Olga Tsoulaki"
    },
    {
      "affiliations": [
        "Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK"
      ],
      "name": "Anna Wilsdon"
    },
    {
      "affiliations": [],
      "name": "Genetics Research and Audit Collaborative (GRAC)"
    }
  ],
  "title": "Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genes",
  "uid": "0bbe61d1-f8ba-5333-821d-a57ec82031c6"
}