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Region Hovedstaden - en del af Københavns Universitetshospital
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Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Distinct gene expression signatures in lynch syndrome and familial colorectal cancer type x

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Pål Møller
  • Toni Seppälä
  • Inge Bernstein
  • Elke Holinski-Feder
  • Paulo Sala
  • D Gareth Evans
  • Annika Lindblom
  • Finlay Macrae
  • Ignacio Blanco
  • Rolf H Sijmons
  • Jacqueline Jeffries
  • Hans F A Vasen
  • John Burn
  • Sigve Nakken
  • Eivind Hovig
  • Einar Andreas Rødland
  • Kukatharmini Tharmaratnam
  • Wouter H de Vos Tot Nederveen Cappel
  • James O Hill
  • Juul T Wijnen
  • Mark A Jenkins
  • Kate Green
  • Fiona Lalloo
  • Lone Sunde
  • Miriam Mints
  • Lucio Bertario
  • Marta Pineda
  • Matilde Navarro
  • Monika Morak
  • Laura Renkonen-Sinisalo
  • Mev Dominguez Valentin
  • Ian M Frayling
  • John-Paul Plazzer
  • Kirsi Pylvanainen
  • Maurizio Genuardi
  • Jukka-Pekka Mecklin
  • Gabriela Möslein
  • Julian R Sampson
  • Gabriel Capellá
  • Mallorca Group
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BACKGROUND: Most patients with path_MMR gene variants (Lynch syndrome (LS)) now survive both their first and subsequent cancers, resulting in a growing number of older patients with LS for whom limited information exists with respect to cancer risk and survival.

OBJECTIVE AND DESIGN: This observational, international, multicentre study aimed to determine prospectively observed incidences of cancers and survival in path_MMR carriers up to 75 years of age.

RESULTS: 3119 patients were followed for a total of 24 475 years. Cumulative incidences at 75 years (risks) for colorectal cancer were 46%, 43% and 15% in path_MLH1, path_MSH2 and path_MSH6 carriers; for endometrial cancer 43%, 57% and 46%; for ovarian cancer 10%, 17% and 13%; for upper gastrointestinal (gastric, duodenal, bile duct or pancreatic) cancers 21%, 10% and 7%; for urinary tract cancers 8%, 25% and 11%; for prostate cancer 17%, 32% and 18%; and for brain tumours 1%, 5% and 1%, respectively. Ovarian cancer occurred mainly premenopausally. By contrast, upper gastrointestinal, urinary tract and prostate cancers occurred predominantly at older ages. Overall 5-year survival for prostate cancer was 100%, urinary bladder 93%, ureter 85%, duodenum 67%, stomach 61%, bile duct 29%, brain 22% and pancreas 0%. Path_PMS2 carriers had lower risk for cancer.

CONCLUSION: Carriers of different path_MMR variants exhibit distinct patterns of cancer risk and survival as they age. Risk estimates for counselling and planning of surveillance and treatment should be tailored to each patient's age, gender and path_MMR variant. We have updated our open-access website www.lscarisk.org to facilitate this.

OriginalsprogEngelsk
TidsskriftGut
ISSN0017-5749
DOI
StatusUdgivet - 1 jul. 2017

ID: 51525648