The prevalence of pathogenic or likely pathogenic germline variants in a nationwide cohort of young colorectal cancer patients using a panel of 18 genes associated with colorectal cancer

Erik Frostberg*, Annabeth Høgh Petersen, Anders Bojesen, Hans Bjarke Rahr, Jan Lindebjerg, Karina Rønlund

*Corresponding author for this work

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Abstract

Introduction: The prevalence of pathogenic or likely pathogenic germline variants (PGV) in colorectal cancer (CRC) in young patients is seen in approximately one in five patients, with the majority of cases having gene variants associated with Lynch syndrome (LS). The primary aim was to describe the prevalence of 18 genes, all associated with hereditary polyposis and CRC, in a nationwide population of young CRC (yCRC) patients, and outline disease characteristics in patients with or without germline variants. Methods: We screened 98 patients aged 18–40 with CRC diagnosed in 2010–2013 for variants in MSH2, MSH6, MLH1, PMS2, EPCAM, APC, MUTYH, SMAD4, BMPR1A, STK11, PTEN, POLE, POLD1, NTHL1, AXIN2, MSH3, GREM1 and RNF43 using Next Generation Sequencing. Comparisons between patients’ characteristics in patients with PGV, and patients without germline variants (NPGV) were analyzed. Results: PGV were detected in twenty-four patients (24.5%), and twenty-one patients (21.1%) had variants in the mismatch repair (MMR) genes associated with LS. Variants in the APC and MUTYH genes were detected in 1% and 4%, respectively. Patients with NPGV had more advanced disease with adverse histopathological features. Conclusion: PGV was detected in one in four yCRC patients, and one in five yCRC patients had disease causing variants in the mismatch repair genes associated with LS.

Original languageEnglish
Article number5094
JournalCancers
Volume13
Issue number20
Number of pages12
ISSN2072-6694
DOIs
Publication statusPublished - 12. Oct 2021

Bibliographical note

Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.

Keywords

  • Colorectal cancer
  • Germline mutation
  • Germline variants
  • Lynch syndrome
  • Nationwide
  • Young

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