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. 2018 Oct 5;57(5):316–321. doi: 10.1136/jmedgenet-2018-105610

Figure 1.

Figure 1

CDKN2A mutations and mutational load in melanoma tumours. (A) Distribution of somatic mutations in the CDKN2A gene created by the MutationMapper tool at cBioPortal. Highlighted are the three most frequently recurring mutations (P114L/T, R80* and W110*) observed in the melanoma tumours. (B) Mutational load analysis in 879 melanoma tumours, 118 tumours with CDKN2A mutations (mut) and 761 tumours without CDKN2A mutations (wt). The y axis shows total numbers of mutations found per tumour sample in 1461 frequently mutated cancer-associated genes. The non-parametrical Wilcoxon test was used to calculate the p value. The association between mutational load and CDKN2A mutation status was confirmed in a linear regression model adjusted for study from which the tumours originated and for origin of tumours from primary melanomas or metastatic lesions, p<0.001. For linear regression, mutational load was log-transformed to approximate a normal distribution.