Work packages

Medical genetics

Group Leader:
Eli Grindedal (Oslo University Hospital)

Several of the genes that are involved in known syndromes for hereditary cancer are associated with a small to moderately increased risk of pancreatic cancer.

The PREPAIRD Study: Personalized suReillance for Early detection and prevention of Pancreatic cAncer in hIgh Risk inDividuals

One of the main goals with the work package for medical genetics is to improve health care for individuals with a hereditary predisospition to pancreatic cancer. The PREPAIRD-study is an important step towards this goal.

The PREPAIRD-study is a national and interdisciplinary research project where we will establish and evaluate a personalized surveillance program for individuals with a hereditary predisposition to pancreatic cancer. The aim of the project is early detection and improved survival of pancreatic cancer. The KNEP work packages of pathology, surgery and circulating tumor are involved in the study. In addition, the project includes researchers and clinicians from other disciplines, such as radiology, metabolomics, psychology and health economy. The first three years of the project is funded by the South-Eastern Norway Regional Health Authority.

Inclusion in the study is open for individuals who have been to genetic counseling and testing at one of the departments of medical genetics in Norway, and through this process have been found to be at increased risk of developing pancreatic cancer due to either:

  1. A germline mutation in STK11, TP53, CDKN2A, PRSS1, or
  2. A family history with several relatives with pancreatic cancer without an identifiable mutation.
Surveillance will consist of annual MRI and evaluation of unintended weight loss, new onset diabetes, glycemic status, and lipid levels. MRI will commence from 30, 40, or 50 years, depending on whether or not one is a mutation carrier or not, and what gene is affected. We will also draw annual blood samples for the analysis of circulating tumor DNA and collect information regarding cancer worry and quality of life.
Through the project, we will:
  1. Examine whether the screenings lead to the diagnosis of precursors to pancreatic cancer, or early diagnosis, thereby improving the prognosis compared to pancreatic cancer detected as a result of symptoms.
  2. Examine whether various biomarkers can be useful in a screening program for the early diagnosis of pancreatic cancer.
  3. Characterize the histomorphology and DNA/RNA profile of pancreatic cancer that occurs in individuals with a hereditary increased risk of the disease.
  4. Evaluate the quality of life of participants receiving screenings and the cost-effectiveness of the follow-up.

Collaborators

  • Tom Grimsrud, Cancer Registry of Norway

  • Knut Jørgen Labori (work package 'Surgery'), Oslo University Hospital/University of Oslo

  • Caroline Verbeke (work package “Pathology”), University of Oslo/Oslo University Hospital

  • Oddmund Nordgård (work package “Circulating tumour-DNA”), Stavanger University Hospital / University of Stavanger

  • Anselm Schulz, Oslo University Hospital

  • Nils Henrik Halberg (work package “Animal models”), University of Bergen

  • Amy Østertun Leirdal (OsloMet)

  • Eline Aas ,University of Oslo

Publications