Point mutations result from changes in a single nucleotide base that may result in altered gene and protein function. Point mutations are especially important when the alterations occur in target genes implicated in pathological conditions. Tools such as PCR, sequencing and Northern blot The BaseScope assay can now detect transcripts down to a single nucleotide change, allowing for the detection of point mutations in FFPE tissues with morphological context. This is particularly applicable for the field of oncology, where point mutations can create intratumor heterogeneity and lead to therapy resistance.

FIGURE 1: Visualization of the point mutation BRAF V600E.  The assay was performed on SK-Mel-28 cells (homozygous for the BRAF V600E mutation) and CHL1a cells (homozygous for V600 BRAF) prepared as an FFPE cell pellet using single double-Z point mutation probes targeting either the BRAF V600E mutated sequence or BRAF V600 WT sequence, respectively. Arrows indicate positive signal.

FIGURE 2: Visualization of the point mutation KRAS G12C.  The assay was performed on SW1573 cells (homozygous for the KRAS G12C mutation) and Hut78 cells (homozygous for KRAS G12) prepared as an FFPE cell pellet using single double-Z point mutation probes targeting either the KRAS G12C mutated sequence or KRAS G12 WT sequence, respectively. Arrows indicate positive signal.

Top publications using the BaseScope™ assay for point mutation detection:

• Baker, A., et al., Robust RNA-based in situ mutation detection delineates colorectal cancer subclonal evolution. Nature Communications, 2017. 8(1): p. 1998.
• Barry, P.V., et al., The spatio-temporal evolution of lymph node spread in early breast cancer. Clin Cancer Res, 2018.
• Li, Z., et al., Recurrent PDGFRB mutations in unicentric Castleman disease. Leukemia, 2019.

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