Intended for healthcare professionals

  1. Education
  2. Should women with...
  3. Should women with Lynch syndrome be offered gynaecological cancer surveillance?
Practice Uncertainties

Should women with Lynch syndrome be offered gynaecological cancer surveillance?

BMJ 2021; 374 doi: https://doi.org/10.1136/bmj.n2020 (Published 02 September 2021) Cite this as: BMJ 2021;374:n2020
  1. NAJ Ryan, specialty registrar in obstetrics and gynaecology, clinical lead for Lynch syndrome Southwest Genomic Medicine Service Alliance; honorary clinical lecturer1 2,
  2. T Snowsill, senior research fellow3,
  3. E McKenzie, patient representative,
  4. KJ Monahan, consultant gastroenterologist, honorary senior clinical lecturer4,
  5. D Nebgen, associate professor and attending gynaecology oncology surgeon5
  1. 1The Academic Women’s Health Unit, Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK
  2. 2Department of Obstetrics and Gynaecology, St Michael’s Hospital, Bristol, UK
  3. 3Health Economics Group, University of Exeter Medical School, University of Exeter, Exeter, Devon, UK
  4. 4The Lynch Syndrome and Family Cancer Clinic, St Mark’s Hospital and Academic Institute, Harrow, London, UK Imperial College London, London, UK
  5. 5Department of Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA
  1. Correspondence to NAJ Ryan neilryan{at}nhs.net

What you need to know

  • Lynch syndrome is an inherited genetic condition associated with an increased risk of endometrial and ovarian cancer in women

  • Limited low quality evidence from observational studies show that gynaecological surveillance detects cancers in women with Lynch syndrome; but it is uncertain if this improves survival, and the optimal testing strategy is not established

  • Inform women with Lynch syndrome about their risk of developing cancer and initiate a discussion about their preference for risk reducing surgery which is definitive, or options for annual review and gynaecological surveillance, explaining their risks and benefits

Guidelines published in 2020 by the National Institute for Health and Care Excellence (NICE) recommend testing for Lynch syndrome in women with endometrial cancer at the time of diagnosis.1 Lynch syndrome is an inherited autosomal dominant condition. It is associated with an increased risk of colorectal, endometrial, and ovarian cancers. It is caused by harmful mutations in the DNA mismatch repair genes MLH1, MSH2 (EPCAM), MSH6, or PMS2.2 One in 440 individuals has Lynch syndrome according to US data, and one in 278 individuals based on a study from Denmark.2 The lifetime risk of someone with Lynch syndrome developing any cancer is estimated to be greater than 60% (unless caused by a PMS2 mutation), according to data from the Prospective Lynch Syndrome database (http://www.plsd.eu). For a woman with Lynch syndrome, the lifetime risk of endometrial or ovarian cancer is 40-60% and 10-17%, respectively, the incidence increasing with age beyond 40 years.2

Data sources and selection strategy

We searched CENTRAL, Medline, Embase, and the Cochrane Database of Systematic Reviews for articles in English from the database inception to February 2021. Our search yielded 974 records. After removal of duplicates, 719 were available to screen. Screening was done by two independent reviewers using the Rayyan platform (https://www.rayyan.ai). Of …

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