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Survival in women with MMR mutations and ovarian cancer; A multicentre study in Lynch Syndrome kindreds
  1. Eli Marie Grindedal (egrindedal{at}yahoo.no)
  1. Section for Inherited Cancer, Dep Medical Genetics, Rikshospitalet Medical Center, N-0310, Oslo, Norway
    1. Laura Renkonen-Sinisalo, Dr (laura.renkonen-sinisalo{at}hus.fi)
    1. Dept. of Surgery, Division of Gastroenterology, Helsinki University Hospital, Finland
      1. Hans Vasen (hfavasen{at}stoet.nl)
      1. The Netherlands Foundation for the detection of Hereditary Tumours, Dep Gastroenterology, Leiden, Netherlands
        1. Gareth Evans (gareth.evans{at}cmmc.nhs.uk)
        1. St Mary's Manchester, United Kingdom
          1. Paola Sala (paola.sala{at}istitutotumori.mi.it)
          1. Colorectal Cancer Surgery Unit, Dep of Surgery, Fondazione IRCCS, Italy
            1. Ignacio Blanco (iblanco{at}iconcologia.net)
            1. Cancer Genetic Counseling Program, and Transl Res Lab, IDIBELL, Barcelona, Spain
              1. Jacek Gronwald (jgron{at}sci.pam.szczecin.pl)
              1. International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
                1. Jaran Apold (jaran.apold{at}helse-bergen.no)
                1. Centre of Medical Genetics, Haukeland University Hospital, Bergen, Norway
                  1. Diana M Eccles (d.m.eccles{at}soton.ac.uk)
                  1. Academic Unit of Genetic Medicine, University of Southampton, United Kingdom
                    1. Ángel A Sánchez (angel.alonso.sanchez{at}cfnavarra.es)
                    1. Department of Medical Genetics, Hospital Virgen del Camino, Pamplona, Spain
                      1. Julian Sampson (sampson{at}cardiff.ac.uk)
                      1. Institute of Medical Genetics, Cardiff, United Kingdom
                        1. Heikki J Järvinen (laura.renkonen-sinisalo{at}hus.fi)
                        1. Dept. of Surgery, Division of Gastroenterology, Helsinki University Hospital, Finland
                          1. Lucio Bertario (bertario{at}istitutotumori.mi.it)
                          1. Colorectal Cancer Surgery Unit, Dep of Surgery, Fondazione IRCCS, Italy
                            1. Gillian C Crawford (d.m.eccles{at}soton.ac.uk)
                            1. Academic Unit of Genetic Medicine, University of Southampton, United Kingdom
                              1. Astrid T Stormorken (astridtenden.stormorken{at}ulleval.no)
                              1. Section for Inherited Cancer, Dep Medical Genetics, Rikshospitalet Medical Center, N-0310, Oslo, Norway
                                1. Lovise Maehle (l.o.mahle{at}medisin.uio.no)
                                1. Section for Inherited Cancer, Dep Medical Genetics, Rikshospitalet Medical Center, N-0310, Oslo, Norway
                                  1. Pål Møller (moller.pal{at}gmail.com)
                                  1. Section for Inherited Cancer, Dep Medical Genetics, Rikshospitalet Medical Center, N-0310, Oslo, Norway

                                    Abstract

                                    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 prophylaxis.

                                    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.

                                    Women who had ovarian cancer, and who tested positive for or were obligate carriers of an MMR-mutation, were included from eleven 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.

                                    Among the 144 women included, 81.5% had FIGO stage 1 or 2 at diagnosis. Ten-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 years survival for ovarian cancer was 71.5%, and for all HNPCC/Lynch syndrome related cancers including ovarian cancer 47.3%.

                                    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.

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