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Medical genetics

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.

These are BRCA1 and BRCA2 (hereditary breast and ovarian cancer), the MMR genes (Lynch syndrome), CDKN2A (hereditary malignant melanoma), TP53 (Li-Fraumeni syndrome) and STK11 (Peutz-Jeghers syndrome).

The aim of this work package on medical genetics is to develop more precise knowledge on these genetic risk factors for pancreatic cancer and to improve access to genetic counseling and testing for patients with pancreatic cancer.

During the project period we will conduct a prospective study of the pancreatic cancer risk in 4800 Norwegian men and women who have tested positive for a pathogenic variant in BRCA1 or BRCA2.

We will also work to offer genetic testing for hereditary cancer for patients diagnosed with pancreatic cancer in Helse Sør-Øst. Genetic testing for hereditary cancer syndromes may identify a cause of the patient’s disease. If a pathogenic variant is detected, their relatives will be offered predictive genetic testing for this variant. Those who test positive for the variant will be provided access to health care services for early detection and prevention of cancers that the genes give a high risk for.

During the project period, we have in collaboration with the leaders of the work packages for surgery, pathology and circulating tumor DNA received a grant from the South Eastern Health Authority Trust to establish and evaluate a surveillance program for early detection of pancreatic cancer in high-risk individuals. The name of the project is PREPAIRD (Personalized suRveillance for Early detection and prevention of Pancreatic cAncer in hIgh Risk inDividuals). Participants are invited to enroll in the study through the four medical genetics departments in Norway. The project also includes work packages in radiology, metabolomics, psychology, and health economics.

Collaborators

  • Tom Grimsrud, Cancer Registry of Norway
  • Knut Jørgen Labori (work package «Surgery»), OUH/UiO

  • Caroline Verbeke (work package «Pathology»), UiO/OUH

  • Oddmund Nordgård (work package “Circulating tumour-DNA”), SUH/UiS

  • Anselm Schulz, OUH

  • Nils Henrik Halberg (work package “Animal models”), UiB

  • Amy Østertun Leirdal (OsloMet)

  • Eline Aas (UiO)

Published Mar. 1, 2021 3:59 PM - Last modified Feb. 24, 2023 4:42 PM