Clinicopathological relevance of BRAF mutations in human cancer

Pakneshan, Sahar, Salajegheh, Ali, Smith, Robert A., & Lam, Alfred King-Yin (2013) Clinicopathological relevance of BRAF mutations in human cancer. Pathology, 45(4), pp. 346-356.

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BRAF represents one of the most frequently mutated protein kinase genes in human tumours. The mutation is commonly tested in pathology practice. BRAF mutation is seen in melanoma, papillary thyroid carcinoma (including papillary thyroid carcinoma arising from ovarian teratoma), ovarian serous tumours, colorectal carcinoma, gliomas, hepatobiliary carcinomas and hairy cell leukaemia. In these cancers, various genetic aberrations of the BRAF proto-oncogene, such as different point mutations and chromosomal rearrangements, have been reported. The most common mutation, BRAF V600E, can be detected by DNA sequencing and immunohistochemistry on formalin fixed, paraffin embedded tumour tissue. Detection of BRAF V600E mutation has the potential for clinical use as a diagnostic and prognostic marker. In addition, a great deal of research effort has been spent in strategies inhibiting its activity. Indeed, recent clinical trials involving BRAF selective inhibitors exhibited promising response rates in metastatic melanoma patients. Clinical trials are underway for other cancers. However, cutaneous side effects of treatment have been reported and therapeutic response to cancer is short-lived due to the emergence of several resistance mechanisms. In this review, we give an update on the clinical pathological relevance of BRAF mutation in cancer. It is hoped that the review will enhance the direction of future research and assist in more effective use of the knowledge of BRAF mutation in clinical practice.

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ID Code: 74506
Item Type: Journal Article
Refereed: Yes
Additional Information: Pakneshan, Sahar Salajegheh, Ali Smith, Robert Anthony Lam, Alfred King-Yin Review England Pathology. 2013 Jun;45(4):346-56. doi: 10.1097/PAT.0b013e328360b61d.
Keywords: DNA Mutational Analysis, GTP Phosphohydrolases/genetics, Gene Rearrangement, Humans, Melanoma/diagnosis/drug therapy/ genetics/secondary, Membrane Proteins/genetics, Molecular Targeted Therapy, Point Mutation, Prognosis, Proto-Oncogene Proteins B-raf/ genetics, Skin Neoplasms/diagnosis/drug therapy/ genetics/pathology, Tumor Markers, Biological/genetics
DOI: 10.1097/PAT.0b013e328360b61d
ISSN: 1465-3931
Subjects: Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > ONCOLOGY AND CARCINOGENESIS (111200) > Cancer Genetics (111203)
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2013 Royal College of Pathologists Australasia
Deposited On: 29 Jul 2014 22:40
Last Modified: 30 Jul 2014 23:16

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