BRAF gene: From human cancers to developmental syndromes

作者：Muhammad Ramzan Manwar Hussain, Mukhtiar Baig, Hussein S. A. Mohamoud, Zaheer Ul‐Haq, Daniel C. Hoessli, Ghaidaa Siraj Khogeer, Ranem Radwan Al-Sayed, Jumana Yousuf Al-Aama · 发表于：Saudi Journal of Biological Sciences · 年份：2014 · DOI：10.1016/j.sjbs.2014.10.002 · 被引用次数：122 · 研究领域：Protein Tyrosine Phosphatases、Cancer Mechanisms and Therapy、PI3K/AKT/mTOR signaling in cancer

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.