Figure 2: TSC lesions are infrequently mutated with large chromosome aberrations identified in a subset. | Nature Communications

Figure 2: TSC lesions are infrequently mutated with large chromosome aberrations identified in a subset.

From: The genomic landscape of tuberous sclerosis complex

Figure 2

(a) Each symbol represents the number of somatic mutations, including point and INDELs, per Mb of genomic DNA. (b) Somatic mutations per Mb for cancerous and TSC lesions shown as boxes (25th to 75th percentile) and whiskers (5th to 95th percentile). Outliers shown as individual data points. (c) GISTIC was used to call whole and arm-level CNAs using processed SNP array data. Gains (3n) are shown in red and losses (1n) are shown in blue. (d) All CNAs were visually confirmed with genome-wide LRR and BAF plots. 29-SEGA1 is shown as an example. (e) FISH was used to confirm large CNAs. Representative nuclei, stained with DAPI in blue, show single fluorescent puncta using probes to chromosome 1p, 11p, 7p, 18p and 18q, and three fluorescent puncta using a probe to chromosome 5p, confirming losses and gains, respectively. AML, acute myeloid leukemia; BLCA, bladder urothelial carcinoma; BRCA, breast invasive carcinoma; COAD, colon adenocarcinoma; GBM, glioblastoma multiforme; HNSC, head and neck squamous cell carcinoma; KIRC, kidney renal clear cell carcinoma; LUAD, lung adenocarcinoma; LUSC, lung squamous cell carcinoma; OV, ovarian serous cystadenocarcinoma; READ, rectum adenocarcinoma; TSC, tuberous sclerosis complex; UCEC, uterine corpus endometrial carcinoma.

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