BRAF mutation: Current and future clinical pathological applications in colorectal carcinoma

Area of Science:

• Oncology
• Molecular Biology
• Genetics

Background:

• BRAF mutations are significant in colorectal carcinoma (CRC) pathogenesis.
• The V600E variant is the most prevalent BRAF mutation in CRC.

Purpose of the Study:

• To review the clinical relevance of BRAF mutations in colorectal carcinoma.
• To explore BRAF mutation detection methods and therapeutic implications.

Main Methods:

• Systematic literature review of studies published in PubMed from 2010 to 2018.
• Analysis of data on BRAF mutation prevalence, clinical associations, and detection techniques in CRC.

Main Results:

• BRAF mutations occur in 5-15% of CRCs, particularly in older females, smokers, and proximal tumors.
• Mutations correlate with high histological grade, advanced stages, and adverse features like lymphovascular invasion and lymph node metastasis.
• BRAF mutations are associated with serrated polyposis syndrome and inversely with hereditary nonpolyposis colorectal cancer (HNPCC).

Conclusions:

• BRAF mutation status is a critical factor in CRC, influencing prognosis and treatment strategies.
• Advanced detection methods and targeted therapies, including combinatorial approaches, hold promise for improving CRC management.