Mutations in Cancer

1 Projects

• Mutation Analysis of De Novo Pyrimidine Pathway

• Data Analysis of Missense/nonsense/synonmous Mutations.

2 Background

• Grafted cancer cells devoid of mitochondria
  • Grow with 3weeks delay
  • “Hijack” mitochondria from cells
  • DHODH is the key
• Goal: analysis mutation status of DHODH, and other genes in de novo Pyrimidine biosynthesis

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3 Results

Figure 3.1: Gene mutation rate ~ expression level

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4 Results

Figure 4.1: MutsigCV q-value ~ expression level

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5 Results

Figure 5.1: The dN/dS ratio in healthy (1000G) and cancer (TCGA) genomes

6 Distribution of Recurrent Mutations

Figure 6.1: POG: recurrent missense mutations, TSG: recurrent nonsense mutations

7 Recurrent Mutations Have Higher Functional Impact

left:DANN, higher score: higher impact
right:SIFT, lower score: higher impact

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8 Recurrent Nonsense Mutations

9 APC

10 Future Work

• Investigation of Features Essential for Cancer Driver Mutations

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• Development of Mutation Driver Predictor

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• Investigation of Cancer-specific Essential Genes or Pathways

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11 test

	mpg	cyl	disp	hp	drat	wt	qsec	vs	am	gear	carb
Mazda RX4	21.0	6	160	110	3.90	2.620	16.46	0	1	4	4
Mazda RX4 Wag	21.0	6	160	110	3.90	2.875	17.02	0	1	4	4
Datsun 710	22.8	4	108	93	3.85	2.320	18.61	1	1	4	1
Hornet 4 Drive	21.4	6	258	110	3.08	3.215	19.44	1	0	3	1
Hornet Sportabout	18.7	8	360	175	3.15	3.440	17.02	0	0	3	2