Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Johannes E. Jäntti"'
Autor:
Joni A. Turunen, Tero Kivelä, Johannes E. Jäntti, Virpi Raivio, Reetta-Stiina Järvinen, Elina S. Rantala, Martin Täll, Pauliina Repo
Publikováno v:
Pigment Cell & Melanoma Research. 33:756-762
Uveal melanoma (UM) is a rare intraocular cancer with the highest incidence in northern latitudes. Metastases develop in approximately 50% of patients, whereafter the median survival is 13 months. Generally, the mutation burden of these tumors is low
Autor:
Tero Kivelä, Johannes E. Jäntti, Virpi Raivio, Joni A. Turunen, Martin Täll, Reetta-Stiina Järvinen, Salla Markkinen, Pauliina Repo
Publikováno v:
Human molecular genetics. 28(14)
Pathogenic germline variants in the BRCA1-associated protein 1 (BAP1) gene cause the BAP1 tumor predisposition syndrome (BAP1-TPDS) with increased risk of several cancers, the most frequent of which is uveal melanoma (UM). Pathogenicity of loss-of-fu