Fig. 8: Recurrent mutations in cancer-related genes and mutations in PIK3CA.
From: Intratumor heterogeneity of HPV integration in HPV-associated head and neck cancer
a Driver gene mutation profiles of HPV+ HNSCC. Bar plot shows total mutations in cancer-related genes, excluding heterozygous mutations in TSGs. Heat maps above show HPV types, HPV physical states, prognosis, number of subclones, tumor ploidy, clonal signatures, one- or two-hit loss in ATM, and mutations in PIK3CA, CYLD and/or TRAF3, as well as IQANK1 and MYC. Heat map below shows mutations in cancer-related genes in multiple tumors. CG, cancer-related gene; log2R, log2(TCN / tumor ploidy); Low GAIN, CNA gain (TCN > tumor ploidy × 20.8); High GAIN, CNA gain (TCN > tumor ploidy × 21.6); Amplification, CNA gain (TCN > tumor ploidy × 22.3); MUT + LOH, nonsynonymous mutation combined with copy-neutral loss of heterozygosity (TCN > 1.5 and MCN < 0.5; no wild-type alleles). b Lollipop plot illustrating 20 PIK3CA nonsynonymous mutations. c,d MutationTimeR results for OU02 with both PIK3CA and IQANK1 & MYC gains and PCAWG08 with PIK3CA gain and whole genome duplication (WGD). Horizontal lines in the plot show estimated timing of CNA gains (0 for earliest gain, 1 for latest gain). Boxes denote 95% CI. Histogram on the right shows the distribution of timing events. Monoallelic gains are in blue, copy-neutral loss of heterozygosity in pink, and biallelic gains (WGD) in green. For OU02, the estimated timing of CNA gain region containing PIK3CA (in chr3q) was 0.12 and that of CNA gain region containing MYC (chr8q) was 0.29. Missense mutation in PIK3CA (p.E542K) was considered an early clonal mutation, occurring earlier than PIK3CA gain (Supplementary Data 8). Source data are provided as a Source Data file.
