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Gut: journal of the British Society of Gastroenterology v.66 no.3, 2017년, pp.464 - 472   SCI SCIE
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Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

Møller, Pål (Research Group Inherited Cancer, Department of Medical Genetics, The Norwegian Radium Hospital, Oslo University Hospital, , Oslo, Norway ) ; Seppala, Toni (Department of Surgery, Central Finland Health Care District, , Jyvaskyla, Finland ) ; Bernstein, Inge (Danish HNPCC Register ) ; Holinski-Feder, Elke (Hvidovre University Hospital, , Copenhagen, Denmark ) ; Sala, Paola (Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universitat Munchen, Ziemssenstr. 1, , Munich, Germany ) ; Evans, D Gareth (Unit of Hereditary Digestive Tract Tumors IRCCS Istituto Nazionale Tumori, Milan, Italy ) ; Lindblom, Annika (Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, , Manchester, UK ) ; Macrae, Finlay (Department of Molecular Medicine and Surgery, Karolinska Institutet, , Stockholm, Sweden ) ; Blanco, Ignacio (Colorectal Medicine and Genetics, The Royal Melbourne Hospital, , Melbourne, Australia ) ; Sijmons, Rolf (Hereditary Cancer Program, Institut Catalååà ) ; Jeffries, Jacqueline (d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, , Barcelona, Spain ) ; Vasen, Hans (Department of Genetics, University of Groninge ) ; Burn, John ; Nakken, Sigve ; Hovig, Eivind ; Rødland, Einar Andreas ; Tharmaratnam, Kukatharmini ; de Vos tot Nederveen Cappel, Wouter H ; Hill, James ; Wijnen, Juul ; Green, Kate ; Lalloo, Fiona ; Sunde, Lone ; Mints, Miriam ; Bertario, Lucio ; Pineda, Marta ; Navarro, Matilde ; Morak, Monika ; Renkonen-Sinisalo, Laura ; Frayling, Ian M ; Plazzer, John-Paul ; Pylvanainen, Kirsi ; Sampson, Julian R ; Capella, Gabriel ; Mecklin, Jukka-Pekka ; Moslein, Gabriela ;
  • 초록  

    Objective Estimates of cancer risk and the effects of surveillance in Lynch syndrome have been subject to bias, partly through reliance on retrospective studies. We sought to establish more robust estimates in patients undergoing prospective cancer surveillance. Design We undertook a multicentre study of patients carrying Lynch syndrome-associated mutations affecting MLH1 , MSH2 , MSH6 or PMS2 . Standardised information on surveillance, cancers and outcomes were collated in an Oracle relational database and analysed by age, sex and mutated gene. Results 1942 mutation carriers without previous cancer had follow-up including colonoscopic surveillance for 13 782 observation years. 314 patients developed cancer, mostly colorectal (n=151), endometrial (n=72) and ovarian (n=19). Cancers were detected from 25 years onwards in MLH1 and MSH2 mutation carriers, and from about 40 years in MSH6 and PMS2 carriers. Among first cancer detected in each patient the colorectal cancer cumulative incidences at 70 years by gene were 46%, 35%, 20% and 10% for MLH1, MSH2, MSH6 and PMS2 mutation carriers, respectively. The equivalent cumulative incidences for endometrial cancer were 34%, 51%, 49% and 24%; and for ovarian cancer 11%, 15%, 0% and 0%. Ten-year crude survival was 87% after any cancer, 91% if the first cancer was colorectal, 98% if endometrial and 89% if ovarian. Conclusions The four Lynch syndrome-associated genes had different penetrance and expression. Colorectal cancer occurred frequently despite colonoscopic surveillance but resulted in few deaths. Using our data, a website has been established at http://LScarisk.org enabling calculation of cumulative cancer risks as an aid to genetic counselling in Lynch syndrome.


  • 주제어

    CANCER GENETICS .   CANCER PREVENTION .   CANCER SYNDROMES .   COLONOSCOPY .   COLORECTAL CANCER.  

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