Discuss the specific data presented in this figure in the context of genetic het

Question

Discuss the specific data presented in this figure in the context of genetic heterogeneity. In your answer, also describe the primary challenge to identification of driver mutations in high throughput sequencing datasets.

Mutations in key genes and pathways in pancreatic cancer

The upper panel shows non-silent single nucleotide variants and small insertions or deletions. The central matrix shows: non-silent mutations (blue), copy number changes (amplification (>5 copies) represented in red and loss represented in green) and genes affected by structural variants (SV, yellow). Pathogenic germline variants are highlighted with asterisk (*) symbols. The histogram on the left shows the number of each alteration in each gene.

Explanation / Answer

The data represents the genetic heterogeneity in terms of variation in gene sequence , copy number and deletions/insertions leading to heterogeneous population . Green that indicates loss if gene copy is found in more numbers compared to other mutations.

Driver mutations are those that are known to drive various pathways that may contribute to growth of cancer. For eg: loss of tp53 may lead to greater uncontrolled growth,that is loss of a tumour suppressor gene. With the data obtained from whole genome sequencing, one needs to compare them with respective controls. But to precisely find out which amongst them is most important driver mutation is difficult and needs extensive computational analysis and verification with wet lab experiments.

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