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Fig. 2 | Genome Medicine

Fig. 2

From: Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations

Fig. 2

Annotating mutations in cancer genes. a Catalog of Cancer Genes. Genes that drive tumorigenesis via mutations, copy number alterations, and/or translocations are annotated with their mode of action (MoA). b Catalog of Validated Oncogenic Mutations. Clinically or experimentally validated driver mutations were gathered from manually annotated resources and the cancer literature. c Proportion of validated mutations observed across the cancer genes of 6792 tumors. Cancer types: ALL acute lymphocytic leukemia, AML acute myeloid leukemia, BLCA bladder carcinoma, BRCA breast carcinoma, CLL chronic lymphocytic leukemia, CM cutaneous melanoma, COREAD colorectal adenocarcinoma, DLBC diffuse large B cell lymphoma, ESCA esophageal carcinoma, GBM glioblastoma multiforme, HC hepatocarcinoma, HNSC head and neck squamous cell carcinoma, LGG lower grade glioma, LUAD lung adenocarcinoma, LUSC lung squamous cell carcinoma, MB medulloblastoma, MM multiple myeloma, NB neuroblastoma, NSCLC non-small cell lung carcinoma, OV serous ovarian adenocarcinoma, PA pilocytic astrocytoma, PAAD pancreas adenocarcinoma, PRAD prostate adenocarcinoma, RCC renal clear cell carcinoma, SCLC small cell lung carcinoma, STAD stomach adenocarcinoma, THCA thyroid carcinoma, UCEC uterine corpus endometrioid carcinoma. d OncodriveMUT schema to estimate the oncogenic potential of the variants of unknown significance. A set of heuristic rules combines the annotations obtained for a given mutation with the knowledge about the genes (or regions thereof) in which it is observed, as retrieved from the computational analyses of sequenced cohorts

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