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Current perspectives on CHEK2 mutations in breast cancer

Authors Apostolou P, Papasotiriou I

Received 21 January 2017

Accepted for publication 20 April 2017

Published 12 May 2017 Volume 2017:9 Pages 331—335


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Professor Pranela Rameshwar

Panagiotis Apostolou, Ioannis Papasotiriou

Department of Molecular Medicine, Research Genetic Cancer Centre S.A. (R.G.C.C. S.A.), Florina, Greece

Abstract: Checkpoint kinase 2 (CHEK2) is a serine/threonine kinase which is activated upon DNA damage and is implicated in pathways that govern DNA repair, cell cycle arrest or apoptosis in response to the initial damage. Loss of kinase function has been correlated with different types of cancer, mainly breast cancer. CHEK2 functionality is affected by different missense or deleterious mutations. CHEK2*1100delC and I157T are most studied in populations all over the world. Although these variants have been identified in patients with breast cancer, their frequency raises doubts about their importance as risk factors. The present article reviews the recent advances in research on CHEK2 mutations, focusing on breast cancer, based on the latest experimental data.

Keywords: CHEK2, breast cancer

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