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@ARTICLE{DominguezValentin:275750,
      author       = {M. Dominguez-Valentin and S. Haupt and T. T. Seppälä and
                      J. R. Sampson and L. Sunde and I. Bernstein and M. A.
                      Jenkins and C. Engel and S. Aretz and M. Nielsen and G.
                      Capella and F. Balaguer and D. G. Evans and J. Burn and E.
                      Holinski-Feder and L. Bertario and B. Bonanni and A.
                      Lindblom and Z. Levi and F. Macrae and I. Winship and J.-P.
                      Plazzer and R. Sijmons and L. Laghi and A. Della Valle and
                      K. Heinimann and T. Dębniak and R. Fruscio and F.
                      Lopez-Koestner and K. Alvarez-Valenzuela and L. H. Katz and
                      I. Laish and E. Vainer and C. Vaccaro and D. M. Carraro and
                      K. Monahan and E. Half and A. Stakelum and D. Winter and R.
                      Kennelly and N. Gluck and H. Sheth and N. Abu-Freha and M.
                      Greenblatt and B. M. Rossi and M. Bohorquez and G. M.
                      Cavestro and L. S. Lino-Silva and K. Horisberger and M. G.
                      Tibiletti and I. d. Nascimento and H. Thomas and N. T. Rossi
                      and L. Apolinário da Silva and A. Zaránd and J.
                      Ruiz-Bañobre and V. Heuveline and J.-P. Mecklin and K.
                      Pylvänäinen and L. Renkonen-Sinisalo and A. Lepistö and
                      P. Peltomäki and C. Therkildsen and M. G. Madsen and S. K.
                      Burgdorf and J. L. Hopper and A. K. Win and R. W. Haile and
                      N. Lindor and S. Gallinger and L. Le Marchand and P. A.
                      Newcomb and J. Figueiredo and D. D. Buchanan and S. N.
                      Thibodeau and M. von Knebel Doeberitz$^*$ and M. Loeffler
                      and N. Rahner and E. Schröck$^*$ and V. Steinke-Lange and
                      W. Schmiegel and D. Vangala and C. Perne and R. Hüneburg
                      and S. Redler and R. Büttner and J. Weitz and M. Pineda and
                      N. Duenas and J. B. Vidal and L. Moreira and A. Sánchez and
                      E. Hovig and S. Nakken and K. Green and F. Lalloo and J.
                      Hill and E. Crosbie and M. Mints and Y. Goldberg and D.
                      Tjandra and S. W. ten Broeke and R. Kariv and G. Rosner and
                      S. H. Advani and L. Thomas and P. Shah and M. Shah and F.
                      Neffa and P. Esperon and W. Pavicic and G. T. Torrezan and
                      T. Bassaneze and C. A. Martin and G. Moslein and P. Moller},
      title        = {{M}ortality by age, gene and gender in carriers of
                      pathogenic mismatch repair gene variants receiving
                      surveillance for early cancer diagnosis and treatment: a
                      report from the prospective {L}ynch syndrome database},
      journal      = {EClinicalMedicine},
      volume       = {58},
      issn         = {2589-5370},
      address      = {Amsterdam},
      publisher    = {Elsevier},
      reportid     = {DKFZ-2023-00849},
      pages        = {101909},
      year         = {2023},
      abstract     = {Background: The Prospective Lynch Syndrome Database (PLSD)
                      collates information on carriers of pathogenic or likely
                      pathogenic MMR variants $(path_MMR)$ who are receiving
                      medical follow-up, including colonoscopy surveillance, which
                      aims to the achieve early diagnosis and treatment of
                      cancers. Here we use the most recent PLSD cohort that is
                      larger and has wider geographical representation than
                      previous versions, allowing us to present mortality as an
                      outcome, and median ages at cancer diagnoses for the first
                      time. Methods: The PLSD is a prospective observational study
                      without a control group that was designed in 2012 and
                      updated up to October 2022. Data for 8500 carriers of
                      $path_MMR$ variants from 25 countries were included,
                      providing 71,713 years of follow up. Cumulative cancer
                      incidences at 65 years of age were combined with 10-year
                      crude survival following cancer, to derive estimates of
                      mortality up to 75 years of age by organ, gene, and gender.
                      Findings: Gynaecological cancers were more frequent than
                      colorectal cancers in $path_MSH2,$ $path_MSH6$ and
                      $path_PMS2$ carriers [cumulative incidence: $53.3\%,$
                      $49.6\%$ and $23.3\%$ at 75 years, respectively].
                      Endometrial, colon and ovarian cancer had low mortality
                      $[8\%,$ $13\%$ and $15\%,$ respectively] and prostate
                      cancers were frequent in male $path_MSH2$ carriers
                      [cumulative incidence: $39.7\%$ at 75 years]. Pancreatic,
                      brain, biliary tract and ureter and kidney and urinary
                      bladder cancers were associated with high mortality $[83\%,$
                      $66\%,$ $58\%,$ $27\%,$ and $29\%,$ respectively]. Among
                      $path_MMR$ carriers undergoing colonoscopy surveillance,
                      particularly $path_MSH2$ carriers, more deaths followed
                      non-colorectal Lynch syndrome cancers than colorectal
                      cancers. Interpretation: In $path_MMR$ carriers undergoing
                      colonoscopy surveillance, non-colorectal Lynch syndrome
                      cancers were associated with more deaths than were
                      colorectal cancers. Reducing deaths from non-colorectal
                      cancers presents a key challenge in contemporary medical
                      care in Lynch syndrome.},
      cin          = {F210 / DD01},
      ddc          = {610},
      cid          = {I:(DE-He78)F210-20160331 / I:(DE-He78)DD01-20160331},
      pnm          = {316 - Infektionen, Entzündung und Krebs (POF4-316)},
      pid          = {G:(DE-HGF)POF4-316},
      typ          = {PUB:(DE-HGF)16},
      doi          = {10.1016/j.eclinm.2023.101909},
      url          = {https://inrepo02.dkfz.de/record/275750},
}