PMC9489403_01
Details of her family cancer history and the results of available family segregation testing for the 3p21.1 deletion.
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fig1
A 66-year-old female (proband II-5, Figure 1) presented with a personal history of left choroidal melanoma, cutaneous BCC, and multiple recurrent meningioma in the context of a family history of various cancer types (Figure 1). Her heterozygous sister (Figure 1; II-6) died of hepatoid carcinoma of the pancreas at 59 years; the hepatoid carcinoma had loss of nuclear staining for BAP1 on IHC.
(a) An array profile of the deletion and (b) the breakpoints of the deletion and involved OMIM morbid genes.
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fig2
Her heterozygous sister (Figure 1; II-6) died of hepatoid carcinoma of the pancreas at 59 years; the hepatoid carcinoma had loss of nuclear staining for BAP1 on IHC.