A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families 11 Medical and Health Sciences 1112 Oncology and Carcinogenesis 11 Medical and Health Sciences 1117 Public Health and Health Services

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift


Background: Lynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes MLH1, MSH2, MSH6 or PMS2. Carriers are predisposed to colorectal and endometrial cancer, but also other cancer types. The purpose of this retrospective study was to characterize the tumour spectrum of the Swedish Lynch syndrome families. Methods: Data were obtained from genetically verified 235 Lynch families from five of the six health care regions in Sweden. The material was stratified for gender, primary cancer, age and mutated gene and the relative proportions of specific cancer types were compared to those in the general population. Results: A total of 1053 family members had 1493 cancer diagnoses of which 1011 were colorectal or endometrial cancer. Individuals with pathogenic variants in MLH1 and MSH2 comprised 78% of the cohort. Among the 482 non-colorectal/non-endometrial cancer diagnoses, MSH2 carriers demonstrated a significantly increased proportion of urinary tract, gastric, small bowel, ovarian and non-melanoma skin cancer compared to the normal population. MLH1 carriers had an elevated proportion of gastrointestinal cancers (gastric, small bowel, pancreas), while MSH6 carriers had more ovarian cancer than expected. Gastric cancer was predominantly noted in older generations. Conclusion: Lynch syndrome confers an increased risk for multiple cancers other than colorectal and endometrial cancer. The proportions of other cancers vary between different MMR genes, with highest frequency in MSH2-carriers. Gender and age also affect the tumour spectrum, demonstrating the importance of additional environmental and constitutional parameters in determining the predisposition for different cancer types.


  • Masoud Karimi
  • Jenny Von Salomé
  • Christos Aravidis
  • Gustav Silander
  • Marie Stenmark Askmalm
  • Isabelle Henriksson
  • Samuel Gebre-Medhin
  • Jan Erik Frödin
  • Erik Björck
  • Kristina Lagerstedt-Robinson
  • Annika Lindblom
  • Emma Tham
Enheter & grupper
Externa organisationer
  • Karolinska University Hospital
  • Karolinska Institute
  • Uppsala University Hospital
  • Norrland University Hospital
  • Linköping University Hospital
  • Lund University

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Cancer och onkologi


TidskriftHereditary Cancer in Clinical Practice
Utgåva nummer1
StatusPublished - 2018
Peer review utfördJa