Table 1.
Key questions.
Questions |
---|
BAP1 phenotypic spectrum |
What cancers can be considered part of the BAP1-tumour predisposition syndrome? |
Are there specific histological subtypes of associated cancers? |
Are there other cancers whose association is not yet established? |
BAP1 cancer risk |
What are the lifetime cancer risks for BAP1 carriers, overall and for specific cancers? |
Identification of BAP1 carriers |
What is the detection rate of BAP1 GPV in patients with a specific cancer? |
Who should be offered genetic testing of BAP1? |
BAP1 cancer surveillance |
Should individuals undergo surveillance for mesothelioma, renal cancer, uveal or cutaneous melanoma or other cancers? If so, what are the recommendations- clinical or research? |
BAP1 predictive testing (i.e., testing an unaffected individual for a familial GPV) |
What age should predictive testing be recommended? |
What surveillance should be offered to those at 50% risk? |