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. 2019 Aug 4;11(8):1114. doi: 10.3390/cancers11081114

Table 4.

Proposed referral guidelines for genetic diagnostics of BAP1-tumor predisposition syndrome (BAP1-TPDS).

Item Referral Indicated If
Medical history ≥2 BAP1-TPDS-associated tumors a,b
Medical history and family history 1 BAP1-TPDS-associated tumor and
first- or second-degree relative with ≥1 BAP1-TPDS-associated tumor(s) a,b
Young age of onset

  • Uveal melanoma:

  • Cutaneous melanoma:

  • Malignant mesothelioma:

  • Renal cell carcinoma:

 age of onset before 40 years
age of onset before 18 years [60]
age of onset before 50 years [61]
age of onset before 46 years [62]

a BAP1-TPDS-associated tumors include: uveal melanoma, cutaneous melanoma, malignant mesothelioma, renal cell carcinoma, meningioma, cholangiocarcinoma, BAP1-inactivated nevus. Non-melanoma skin cancer in case of unusually high frequency in a single individual or at an unusually young age. b If cutaneous melanoma is the only tumor type, the threshold of initiating germline BAP1 analysis should be ≥3 cutaneous melanomas in populations with a high incidence of cutaneous melanoma.