Figure 1. Lesion Locations and 3 Pedigrees of Familial Melanoma, Including the Proband’s (Pedigree 1).

In this proband and all 3 family pedigrees, the POT1 p.I78T variant was identified as the likely pathogenic variant; all 3 pedigrees show the same base change. A, Locations of lesions identified and excised from the proband, a POT1 variant carrier (p.I78T, c.233T>C, chromosome 7, g.124870933A>G, GRCh38) at age 31 years. The primary melanoma on the neck was from the proband’s father, not the proband, but is added here to illustrate its position. This melanoma progressed to metastatic disease in the father. All numbered lesions were sequenced. Samples numbered 550/551, 554/555, and 609/610 indicate 2 samples taken from the same lesion in these 3 cases. B, Pedigree structures for all families identified to carry the p.I78T variant. Pedigree 1 corresponds to that of the proband, and pedigrees 2 and 3 were identified from the GenoMEL Consortium. Individuals represented by black shapes are variant carriers who presented with melanoma. Individuals with no genotype were not tested. Ages, reported in years, at the times of cancer diagnoses are shown in parentheses when available.