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BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing
E Domingo1, P Laiho, M Ollikainen
1Centre d'Investigacions en Bioquímica i Biologia Molecular (CIBBIM), Hospital Universitari Vall d'Hebron, Passeig Vall d'Hebron 119-129, Barcelona 08035, Spain.
Journal of Medical Genetics
|September 3, 2004
Summary
BRAF-V600E mutations are common in sporadic colorectal cancers but absent in hereditary non-polyposis colorectal cancer (HNPCC) cases. This finding helps differentiate HNPCC, simplifying genetic testing by avoiding unnecessary mismatch repair gene screening.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Hereditary non-polyposis colorectal cancer (HNPCC) diagnosis involves genetic testing for MLH1 and MSH2 mutations in patients with specific family histories or early-onset tumors exhibiting high microsatellite instability (MSI-H).
- The BRAF V600E mutation, found in sporadic MSI-H colon cancer, has an unclear role in HNPCC.
Purpose of the Study:
- To investigate the association of the BRAF V600E mutation with HNPCC.
- To determine if BRAF V600E mutation analysis can aid in differentiating sporadic MSI-H colorectal cancer from HNPCC.
Main Methods:
- BRAF V600E mutations were analyzed using automatic sequencing in 206 sporadic MSI-H colorectal cancers and 111 HNPCC cases with known MLH1/MSH2 germline mutations.
- An additional 45 HNPCC cases with abnormal MSH2 immunostaining were also analyzed.
Main Results:
- The BRAF V600E mutation was detected in 40% of sporadic MSI-H tumors.
- No BRAF V600E mutations were found in any of the tested HNPCC tumors or in cases with abnormal MSH2 immunostaining.
Conclusions:
- The presence of a BRAF V600E mutation in MSI-H colorectal tumors suggests it is not HNPCC associated with MLH1 or MSH2 germline mutations.
- BRAF V600E mutation analysis can help avoid unnecessary MLH1/MSH2 gene screening in HNPCC diagnostics.
- BRAF hotspot mutation analysis offers a reliable, fast, and cost-effective method to simplify genetic testing for HNPCC.
