{
  "abstract": "MUTYH‐associated polyposis (MAP) is an autosomal recessive cancer predisposition syndrome. Gujarati heritage is enriched in patients with MAP. Endogamy is frequent in this community. Among ethnicity-matched participants of the 100 000 Genomes Project, the frequency of recurrent pathogenic MUTYH variants in most populations is rarer than that at which testing of reproductive partners of carriers is usually considered. However, MUTYH c.1438G>T (p.Glu480Ter) in participants of Gujarati heritage is relatively common (~1 in 75). We recommend targeted testing for partner(s) of a carrier of MUTYH variant(s) if of Gujarati heritage, to inform reproductive decision-making/management of children. Existing UKCGG guidance is unchanged for other populations.",
  "authors": [
    {
      "affiliations": [
        "Cancer Genetics Unit, Royal Marsden Hospital NHS Trust, London, UK",
        "The Institute of Cancer Research, London, UK"
      ],
      "name": "Terri Patricia McVeigh"
    },
    {
      "affiliations": [
        "St George’s University Hospitals NHS Foundation Trust, London, England, UK"
      ],
      "name": "Katie Snape"
    },
    {
      "affiliations": [
        "Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, England, UK"
      ],
      "name": "Ajith Kumar"
    },
    {
      "affiliations": [
        "St Mark’s the National Bowel Hospital and Academic Institute, London, England, UK"
      ],
      "name": "Andrew Latchford"
    }
  ],
  "title": "Specific considerations for MUTYH carrier testing in individuals of Gujarati heritage: UK cancer genetics group recommendations",
  "uid": "45123e56-3e59-504c-bb99-60d627b38945"
}