Nature Communications (Jul 2016)

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes

  • Matteo Cereda,
  • Gennaro Gambardella,
  • Lorena Benedetti,
  • Fabio Iannelli,
  • Dominic Patel,
  • Gianluca Basso,
  • Rosalinda F. Guerra,
  • Thanos P. Mourikis,
  • Ignazio Puccio,
  • Shruti Sinha,
  • Luigi Laghi,
  • Jo Spencer,
  • Manuel Rodriguez-Justo,
  • Francesca D. Ciccarelli

DOI
https://doi.org/10.1038/ncomms12072
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 12

Abstract

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Some individuals present with multiple synchronous colorectal tumours, but the genetic understanding of this is unclear. Here, the authors use a sequencing strategy to show that the synchronous tumours are genetically independent and the patients harbour rare germline damaging mutations in genes associated with the immune system.