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. Author manuscript; available in PMC: 2019 Apr 3.
Published in final edited form as: Cancer Genet. 2015 Dec 22;209(3):75–81. doi: 10.1016/j.cancergen.2015.12.007

Figure 1.

Figure 1

(A) Four generation pedigree of family with novel BAP1 mutation, g.1777C>T, documents co-segregation of BAP1 mutation and multiple cancers. Individuals carrying the familial mutation BAP1 g.1777C>T are designated with a “+” and tested individuals proven not to carry the BAP1 g.1777C>T mutation are shown by “−”. The proband, patient III-5, is indicated with an arrow. Her mother, patient II-4, is assumed to be an obligate carrier given the negative test result in her father and absence of available DNA for testing in her deceased mother. Further information for the maternal family to the proband is unavailable because patient II-4 was adopted into the family. (B) Electropherogram depicting portion of germline DNA exon 14 of BAP1 gene from unaffected family member II-3 documenting wildtype BAP1 sequence. (C) Electropherogram of germline DNA obtained from the proband (III-5) illustrating novel BAP1 mutation g.1777C>T, resulting in truncated BAP1 protein. Genotyping of other unaffected family members (III-8 and IV-3) revealed wildtype germline BAP1; genotyping of affected family members (III-6, III-9, IV-1 and IV-2) revealed the novel BAP1 mutation, g.1777C>T.