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Clinical implications of BRAF mutation test in colorectal cancer.

Nazemalhosseini Mojarad E, Farahani RK, Haghighi MM, Aghdaei HA, Kuppen PJ, Zali MR - Gastroenterol Hepatol Bed Bench (2013)

Bottom Line: Similar to the rationale that KRAS mutation precludes effective treatment with anti-EGFR drugs.Recently, BRAF mutation testing has been introduced into routine clinical laboratories because its significance has become clearer in terms of effect on pathogenesis of CRC, utility in differentiating sporadic CRC from Lynch syndrome (LS), prognosis, and potential for predicting patient outcome in response to targeted drug therapy.In this review we describe the impact of BRAF mutations for these aspects.

View Article: PubMed Central - PubMed

Affiliation: Gastroenterology and Liver Disease Research center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

ABSTRACT
Knowledge about the clinical significance of V-Raf Murine Sarcoma Viral Oncogene Homolog B1 (BRAF) mutations in colorectal cancer (CRC) is growing. BRAF encodes a protein kinase involved with intracellular signaling and cell division. The gene product is a downstream effector of Kirsten Ras 1(KRAS) within the RAS/RAF/MAPK cellular signaling pathway. Evidence suggests that BRAF mutations, like KRAS mutations, result in uncontrolled, non-growth factor-dependent cellular proliferation. Similar to the rationale that KRAS mutation precludes effective treatment with anti-EGFR drugs. Recently, BRAF mutation testing has been introduced into routine clinical laboratories because its significance has become clearer in terms of effect on pathogenesis of CRC, utility in differentiating sporadic CRC from Lynch syndrome (LS), prognosis, and potential for predicting patient outcome in response to targeted drug therapy. In this review we describe the impact of BRAF mutations for these aspects.

No MeSH data available.


Related in: MedlinePlus

Algorithm for genetic testing in colorectal cancer when the samples are first tested for expression of mismatch repair enzymes by immunohistochemistry (IHC), next for mutated BRAF, and finally checking MMR in full sequence
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Figure 0002: Algorithm for genetic testing in colorectal cancer when the samples are first tested for expression of mismatch repair enzymes by immunohistochemistry (IHC), next for mutated BRAF, and finally checking MMR in full sequence

Mentions: The concurrent use of MSI testing, MMR protein IHC and BRAF mutation analysis would detect almost all MMR-deficient CRC (29). A suggested algorithm incorporating somatic BRAF V600E mutation testing of tumor tissue into the investigation of suspected HNPCC is shown in Fig. 1 and in Fig. 2.


Clinical implications of BRAF mutation test in colorectal cancer.

Nazemalhosseini Mojarad E, Farahani RK, Haghighi MM, Aghdaei HA, Kuppen PJ, Zali MR - Gastroenterol Hepatol Bed Bench (2013)

Algorithm for genetic testing in colorectal cancer when the samples are first tested for expression of mismatch repair enzymes by immunohistochemistry (IHC), next for mutated BRAF, and finally checking MMR in full sequence
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4017487&req=5

Figure 0002: Algorithm for genetic testing in colorectal cancer when the samples are first tested for expression of mismatch repair enzymes by immunohistochemistry (IHC), next for mutated BRAF, and finally checking MMR in full sequence
Mentions: The concurrent use of MSI testing, MMR protein IHC and BRAF mutation analysis would detect almost all MMR-deficient CRC (29). A suggested algorithm incorporating somatic BRAF V600E mutation testing of tumor tissue into the investigation of suspected HNPCC is shown in Fig. 1 and in Fig. 2.

Bottom Line: Similar to the rationale that KRAS mutation precludes effective treatment with anti-EGFR drugs.Recently, BRAF mutation testing has been introduced into routine clinical laboratories because its significance has become clearer in terms of effect on pathogenesis of CRC, utility in differentiating sporadic CRC from Lynch syndrome (LS), prognosis, and potential for predicting patient outcome in response to targeted drug therapy.In this review we describe the impact of BRAF mutations for these aspects.

View Article: PubMed Central - PubMed

Affiliation: Gastroenterology and Liver Disease Research center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

ABSTRACT
Knowledge about the clinical significance of V-Raf Murine Sarcoma Viral Oncogene Homolog B1 (BRAF) mutations in colorectal cancer (CRC) is growing. BRAF encodes a protein kinase involved with intracellular signaling and cell division. The gene product is a downstream effector of Kirsten Ras 1(KRAS) within the RAS/RAF/MAPK cellular signaling pathway. Evidence suggests that BRAF mutations, like KRAS mutations, result in uncontrolled, non-growth factor-dependent cellular proliferation. Similar to the rationale that KRAS mutation precludes effective treatment with anti-EGFR drugs. Recently, BRAF mutation testing has been introduced into routine clinical laboratories because its significance has become clearer in terms of effect on pathogenesis of CRC, utility in differentiating sporadic CRC from Lynch syndrome (LS), prognosis, and potential for predicting patient outcome in response to targeted drug therapy. In this review we describe the impact of BRAF mutations for these aspects.

No MeSH data available.


Related in: MedlinePlus