Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Maren F. Olsen"'
Autor:
Wenche Sjursen, Hanne K. Hyldebrandt, Liss Anne S. Lavik, Bjørn Ivar Haukanes, Sarah Ariansen, Siri Briskemyr, Anna E. Sylvander, Marianne T. Haavind, Maren F. Olsen, Elin S. Røyset, Hildegunn Vetti, Astrid Stormorken, Eli Marie Grindedal
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 22, Iss 1, Pp 1-8 (2024)
Abstract Background In Norway, we have offered testing of PMS2 since 2006, and have a large national cohort of carriers. The aim of this study was to describe all PMS2 variants identified, and to describe frequency, spectrum and penetrance of cancers
Externí odkaz:
https://doaj.org/article/d5372f9d9f07459ca2681dd5b204ddce
Autor:
Mariève J. Rocque, Vilde Leipart, Ashish Kumar Singh, Pilar Mur, Maren F. Olsen, Lars F. Engebretsen, Edgar Martin-Ramos, Rosa Aligué, Pål Sætrom, Laura Valle, Finn Drabløs, Marit Otterlei, Wenche Sjursen
Publikováno v:
Molecular Genetics and Genomics. 298:555-566
The cancer syndrome polymerase proofreading-associated polyposis results from germline mutations in the POLE and POLD1 genes. Mutations in the exonuclease domain of these genes are associated with hyper- and ultra-mutated tumors with a predominance o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45ecbf01727d42413c12d729d931ffe5
https://doi.org/10.1007/s00438-023-02000-w
https://doi.org/10.1007/s00438-023-02000-w