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Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds
  1. Eli Marie Grindedal1,
  2. Laura Renkonen-Sinisalo2,
  3. Hans Vasen3,
  4. Gareth Evans4,
  5. Paola Sala5,
  6. Ignacio Blanco6,
  7. Jacek Gronwald7,
  8. Jaran Apold8,
  9. Diana M Eccles9,
  10. Ángel Alonso Sánchez10,
  11. Julian Sampson11,
  12. Heikki J Järvinen2,
  13. Lucio Bertario5,
  14. Gillian C Crawford9,
  15. Astrid Tenden Stormorken1,
  16. Lovise Maehle1,
  17. Pal Moller1
  1. 1Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet Medical Center, Oslo, Norway
  2. 2Department of Surgery, Division of Gastroenterology, Helsinki University Hospital, Finland
  3. 3The Netherlands Foundation for the detection of Hereditary Tumours, Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands
  4. 4Medical Genetics Research Group and Regional Genetics Service, University of Manchester and Central Manchester and Manchester Children's University Hospitals NHS Trust, St Mary's Hospital, Manchester, UK
  5. 5Colorectal Cancer Surgery Unit, Department of Surgery, Fondazione IRCCS “Istituto Nazionale Tumori”, Milan, Italy
  6. 6Cancer Genetic Counseling Program, and Translational Research Laboratory, IDIBELL—Institut Català d'Oncologia, L'Hospitalet de Llobregat, Barcelona, Spain
  7. 7International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
  8. 8Centre of Medical Genetics and Molecular Medicine, Haukeland University Hospital, and Institute of Clinical Medicine, University of Bergen, Bergen, Norway
  9. 9Academic Unit of Genetic Medicine, University of Southampton, UK
  10. 10Department of Medical Genetics, Hospital Virgen del Camino, Pamplona, Spain
  11. 11Institute of Medical Genetics, School of Medicine, Cardiff University, UK
  1. Correspondence to Dr Pal Moller, Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Center, Oslo N-0310, Norway; moller.pal{at}


Background Women with a germline mutation in one of the MMR genes MLH1, MSH2 or MSH6 reportedly have 4–12% lifetime risk of ovarian cancer, but there is limited knowledge on survival. Prophylactic bilateral salpingo-oophorectomy (PBSO) has been suggested for preventing this condition.

Aim The purpose of this retrospective multicentre study was to describe survival in carriers of pathogenic mutations in one of the MMR genes, and who had contracted ovarian cancer.

Methods Women who had ovarian cancer, and who tested positive for or were obligate carriers of an MMR mutation, were included from 11 European centres for hereditary cancer. Most women had not attended for gynaecological screening. Crude and disease specific survival was calculated by the Kaplan–Meier algorithm.

Results Among the 144 women included, 81.5% had FIGO stage 1 or 2 at diagnosis. 10 year ovarian cancer specific survival independent of staging was 80.6%, compared to less than 40% that is reported both in population based series and in BRCA mutation carriers. Disease specific 30 year survival for ovarian cancer was 71.5%, and for all hereditary non-polyposis colon cancer (HNPCC)/Lynch syndrome related cancers including ovarian cancer it was 47.3%.

Conclusions In the series examined, infiltrating ovarian cancer in Lynch syndrome had a better prognosis than infiltrating ovarian cancer in BRCA1/2 mutation carriers or in the general population. Lifetime risk of ovarian cancer of about 10% and a risk of dying of ovarian cancer of 20% gave a lifetime risk of dying of ovarian cancer of about 2% in female MMR mutation carriers.

  • Ovarian cancer
  • lynch syndrome
  • survival
  • MMR genes
  • genetics
  • oncology
  • genetic epidemiology

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  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the subjected to national legislation as health service in all centres—see mns.

  • Patient consent Obtained.

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