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. 2017 Feb 6;26(4):717–728. doi: 10.1093/hmg/ddw403

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© The Author 2017. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 3. — Pedigrees of BAP1 variant carriers identified from a sporadic melanoma cohort. The probands are indicated with an arrow. Black diamonds refer to individuals with a diagnosis of melanoma. Grey refers to other cancers. ‘? Site’ refers to a case where the site is unknown. (A) Family of the proband with the P618fs variant. (B) Family of the proband with the disruptive S98R variant. (C) Family of the proband with the splice acceptor variant. The patient with a Spitzoid Tumour of Uncertain Malignant Potential (STUMP) is indicated in red. An individual with a malignant blue naevus and meningioma is shown in blue. (D–F) Pedigrees of three other families carrying variants predicted to be deleterious by SIFT/Poly-Phen 2. MM: Malignant melanoma; NHL: Non-Hodgkin's lymphoma; BCC: Basal cell carcinoma; Leuk: Leukaemia. Approximate ages of onset are provided where available.