Supplementary Figure 3: Pedigrees with additional POT1 variants.
From: POT1 loss-of-function variants predispose to familial melanoma
(a) Pedigree of family UF31 carrying the p.Gln94Glu change. (b) Pedigree of family UF23 carrying the p.Arg273Leu variant. Types of cancer are indicated under each symbol, and ages of onset are indicated in parentheses. Genotypes for all samples available for testing are shown in blue. All cancers were confirmed by histological analysis with the exception of one case (indicated by an asterisk). CMM, cutaneous malignant melanoma. Circles represent females; squares represent males; diamonds represent individuals of undisclosed sex. Half-filled symbols represent other cancers. The individuals that were sequenced have a red outline.
