B-raf Gene Mutation - SDL

Test Information

Name: B-raf Gene Mutation

Code: 2731-GM

Sample Type: Tissue

Turnaround Time (TAT): 10 days

Preparation & Notes

Tumor parfin block (formalin-fixed, paraffin-embedded) ( at least 4 10u thick unstained sections and on H&E on non charged slides). Area on H&E slidh contains at least 50% tumor cells should be encircled. Method: DNA extracted from tissue subjected to polymerase chain reaction (PCR) using exon 15 specific primers of the BRAF gene . The amplified sequences then determined using the BigDye terminator sequencing and analyzed on an ABI automated sequencer from both strands. Note: BRAF gene is a proto-oncogene, encodes a downstream effector of the RAS G-protein that is part of the ERK/MAPK signal transduction pathway, a cascade involved in the regulation of cell proliferation, differentiation, and apoptosis. Activating somatic mutations causes 500-fold increase of B-RAF kinase activity, thus facilitating the acquisition of secondary genetic events in cancer progression. Activating Somatic BRAF mutations within the kinase domain occur in various types of carcinomas, but most frequently in malignant melanomas (66%) and in Papillary Thyroid Cancer (40%). The BRAF mutation, V600E is the most common known genetic alteration in thyroid cancer and correlates with advanced pathological stage in papillary thyroid cancers and tumor recurrence