Academic Journal
GNAQ and GNA11 mutations and downstream YAP activation in choroidal nevi
| العنوان: | GNAQ and GNA11 mutations and downstream YAP activation in choroidal nevi |
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| المؤلفون: | Vader, M.J.C. (M. J.C.), Madigan, M.C. (M. C.), Versluis, M. (Mieke), Suleiman, H.M. (H. M.), Gezgin, G. (Gülçin), Gruis, N.A. (Nelleke A.), Out-Luiting, J.J. (Jacoba), Bergman, W. (Wilma), Verdijk, R.M. (Robert), Jager, M.J. (Martine), Velden, P.A. (Pieter) van der |
| المصدر: | British Journal of Cancer vol. 117 no. 6, pp. 884-887 |
| سنة النشر: | 2017 |
| المجموعة: | RePub - Publications from Erasmus University, Rotterdam |
| مصطلحات موضوعية: | choroidal nevi, uveal melanoma, GNAQ, GNA11, YAP, droplet digital PCR, mutation |
| الوصف: | Background: Mutations in GNAQ/11 genes are considered an early event in the development of uveal melanoma that may derive from a pre-existing nevus. The Hippo pathway, by way of YAP activation, rather than MAP kinase, has a role in the oncogenic capacity of GNAQ/11 mutations.Methods: We investigated 16 nevi from 13 human eyes for driver GNAQ/11 mutations using droplet digital PCR and determined whether nevi are clonal by quantifying mutant nevus cell fractions. Immunohistochemistry was performed on 15 nevi to analyse YAP activation.Results: For 15 out of 16 nevi, a GNAQ/11 mutation was detected in the nevus cells albeit at a low frequency with a median of 13%. Nuclear YAP, a transcriptional co-activator in the Hippo tumour-suppressor pathway, was detected in 14/15 nevi.Conclusions: Our analysis suggests that a mutation in GNAQ/11 occurs in a subset of choroidal nevus cells. We hypothesise that GNAQ/11 mutant-driven extracellular mitogenic signalling involving YAP activation leads to accumulation of wild-type nevus cells. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | http://repub.eur.nl/pub/101828; urn:hdl:1765/101828 |
| DOI: | 10.1038/bjc.2017.259 |
| الاتاحة: | http://repub.eur.nl/pub/101828 https://doi.org/10.1038/bjc.2017.259 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.D2297768 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/bjc.2017.259 |
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