PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants
After 15 years of genetic testing, 29 different class 4/5 variants have been detected in Norway. Almost half of Norwegian PMS2 carriers have the founder variant 989-1G > T. Penetrance of colorectal cancer in our cohort was moderate but variable, as 11.5% of those diagnosed were younger than 40 years.
Authors
- Hildegunn Høberg‐Vetti (ORCID: https://orcid.org/0000-0002-9876-576X)
- Marianne Tveit Haavind
- Elin Synnøve Røyset (ORCID: https://orcid.org/0000-0003-4423-0361)
- Wenche Sjursen (ORCID: https://orcid.org/0000-0003-3880-6440)
- Hanne Kjensli Hyldebrandt
- Eli Marie Grindedal (ORCID: https://orcid.org/0000-0002-8198-1706)
- Maren Fridtjofsen Olsen
- Anna E. Sylvander
- Bjørn Ivar Haukanes (ORCID: https://orcid.org/0000-0003-1559-3366)
- Siri Briskemyr
- Sarah Ariansen
- Astrid Stormorken
- Liss Anne Solberg Lavik
Institutions
- Oslo University Hospital (NO)
- University Hospital of North Norway (NO)
- University of Oslo (NO)
- Norwegian University of Science and Technology (NO)
- Haukeland University Hospital (NO)
- St Olav's University Hospital (NO)
Publication Details
- Journal
- Hereditary Cancer in Clinical Practice
- Published
- 2024-09-27
- DOI
- https://doi.org/10.1186/s13053-024-00292-6
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Norges Teknisk-Naturvitenskapelige Universitet
- Norske Kvinners Sanitetsforening
- St. Olavs Hospital Universitetssykehuset i Trondheim