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Fig. 1 | BMC Cancer

Fig. 1

From: BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy

Fig. 1

Pedigree and BAP1 sequencing. a Family tree of the index case. The proband (indicated with black arrowhead) presented with cutaneous melanoma at ages 27 and 28 years, as well as with other atypical cutaneous tumors. Filled-in colored symbols indicate family members affected by cancer. When available, the age of onset for cancer is indicated underneath each individual. The two sisters (indicated with plus signs) are carriers of a BAP1 pathogenic variant. b Sanger sequencing identified the c.1265delG variant (p.Gly422Glufs*8) in exon 13 of the patient’s BAP1 gene. Sequencing chromatograms were mapped to the BAP1 transcript reference (NM_004656) by using CLC Genomics Workbench software

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BMC Cancer

ISSN: 1471-2407

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