Article
Case report of a woman with monoclonal gammapathy and papillary thyroid carcinoma, diagnosed because of detection of CHEK2 (I157T) mutation in genetic examinations.
Endokrynologia Polska - 1 Jan 2000
Lizis-Kolus Katarzyna, Kowalska Aldona, Kozak-Klonowska Beata, Siołek Monika, Słuszniak Janusz, Lubiński Jan, Cybulski Cezary
Abstract excerpt
The CHEK2 gene encodes the CHK2 protein, which is kinase involved in DNA repair processes. By activating a lot of cell substrates, it can regulate the cell cycle, demonstrates suppressive effects, and participates in the senescence and apoptosis processes. Mutations in the CHEK2 gene are associated with increased risk of numerous cancers. The case described herein is that of a woman with a missense mutation that...
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