Figure 1. Co-segregation analysis of the MITF E318K variant in the family in which it was identified.
The pedigree shows individuals that have had melanoma (shaded circles or boxes), with the age of first melanoma diagnosis indicated in brackets and the number of melanomas that have occurred in the individual so far (for example, × 2 indicates two primary melanomas). If the number of melanomas is not stated, the individual has had a single melanoma. A diagonal line through the symbol indicates that the person is deceased. The genotype for the MITF E318K variant for individuals with an available DNA sample for testing is annotated ‘E318K’ if a carrier or wild type ‘WT’. Other cancer types are also indicated with the age of first diagnosis indicated in brackets if known. Br, breast; Mes, mesothelioma; MM, melanoma; Oes, oesophagus. The individual circled in Family 1 (FAM1) is the melanoma case in which the MITF E318K variant was discovered through whole-genome sequencing. See Supplementary Fig. 3 for pedigrees of all other families identified as carrying E318K.