Hereditary colorectal cancer diagnostics in southern Sweden: retrospective evaluation and future considerations with emphasis on Lynch syndrome

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Abstract

Overlapping phenotypes between different hereditary colorectal cancer (CRC) syndromes together with a growing demand for cancer genetic testing and improved sequencing technology call for adjusted patient selection and adapted diagnostic routines. Here we present a retrospective evaluation of family history of cancer, laboratory diagnostic procedure, and outcome for 372 patients tested for Lynch syndrome (LS), i.e., the single most common hereditary cause of CRC. Based on number of affected family members and age at cancer diagnosis in families with genetically confirmed LS, we developed local patient selection criteria for a simplified one-step gene panel mutation screening strategy targeting also less common Mendelian CRC syndromes. Pros and cons of this strategy are discussed.

Detaljer

Författare
Enheter & grupper
Externa organisationer
  • Skåne University Hospital
  • Lund University
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Cancer och onkologi
  • Medicinsk genetik

Nyckelord

Originalspråkengelska
Sidor (från-till)259-266
TidskriftJournal of Community Genetics
Volym10
Utgivningsnummer2
Tidigt onlinedatum2018 sep 24
StatusPublished - 2019
PublikationskategoriForskning
Peer review utfördJa