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BRAF gene: From human cancers to developmental syndromes |
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| Authors: | Muhammad Ramzan Manwar Hussain Mukhtiar Baig Hussein Sheik Ali Mohamoud Zaheer Ulhaq Daniel C Hoessli Ghaidaa Siraj Khogeer Ranem Radwan Al-Sayed Jumana Yousuf Al-Aama |
| Institution: | 1. Faculty of Genetic Medicine, King Abdulaziz University, Jeddah, Saudi Arabia;2. Faculty of Medicine, King Abdulaziz University, Rabigh Branch, Saudi Arabia;3. Human Genetics Research Centre, Division of Biomedical Sciences (BMS), St. George’s University of London (SGUL), London, UK;4. Dr. Panjwani Center for Molecular Medicine and Drug Research, International Center for Chemical and Biological Sciences, University of Karachi, Karachi 75270, Pakistan;5. Department of Biology, Genomics and Biotechnology Section, King Abdulaziz University, Jeddah, Saudi Arabia;6. CAS-Institute of microbiology, University of Chinese Academy of Sciences, Beijing, China |
| Abstract: | The BRAF gene encodes for a serine/threonine protein kinase that participates in the MAPK/ERK signalling pathway and plays a vital role in cancers and developmental syndromes (RASopathies). The current review discusses the clinical significance of the BRAF gene and other members of RAS/RAF cascade in human cancers and RAS/MAPK syndromes, and focuses the molecular basis and clinical genetics of BRAF to better understand its parallel involvement in both tumourigenesis and RAS/MAPK syndromes—Noonan syndrome, cardio-facio-cutaneous syndrome and LEOPARD syndrome. |
| Keywords: | RAS–RAF overactivation Cancers Developmental syndromes |
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