BRAF gene: From human cancers to developmental syndromes

被引：71

作者：

Hussain, Muhammad Ramzan Manwar ^{[1
,6
]}

Baig, Mukhtiar ^{[2
]}

Mohamoud, Hussein Sheik Ali ^{[3
]}

Ul-Haq, Zaheer ^{[4
]}

Hoessli, Daniel C. ^{[4
]}

Khogeer, Ghaidaa Siraj ^{[5
]}

Al-Sayed, Ranem Radwan ^{[5
]}

Al-Aama, Jumana Yousuf ^{[1
]}

机构：

[1] King Abdulaziz Univ, Fac Genet Med, Jeddah 21413, Saudi Arabia

[2] King Abdulaziz Univ, Fac Med, Rabigh Branch, Jeddah 21413, Saudi Arabia

[3] St Georges Univ London, Human Genet Res Ctr, Div Biomed Sci BMS, London, England

[4] Univ Karachi, Int Ctr Chem & Biol Sci, Dr Panjwani Ctr Mol Med & Drug Res, Karachi 75270, Pakistan

[5] King Abdulaziz Univ, Dept Biol, Genom & Biotechnol Sect, Jeddah 21413, Saudi Arabia

[6] Univ Chinese Acad Sci, CAS Inst Microbiol, Beijing, Peoples R China

来源：

SAUDI JOURNAL OF BIOLOGICAL SCIENCES | 2015年 / 22卷 / 04期

关键词：

BRAF gene; RAS-RAF overactivation; Cancers; Developmental syndromes; PAPILLARY THYROID-CARCINOMA; MUTATIONS CAUSE NOONAN; CUTANEOUS CFC SYNDROME; CELL LESION SYNDROME; COLORECTAL-CANCER; V600E MUTATION; MICROSATELLITE INSTABILITY; KRAS MUTATIONS; GERMLINE KRAS; LOW-GRADE;

D O I：

10.1016/j.sjbs.2014.10.002

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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. (C) 2014 Production and hosting by Elsevier B.V. on behalf of King Saud University.

引用

页码：359 / 373

页数：15

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