- Clinical diagnostic criteria for BAP1-tumour predisposition syndrome (BAP1-TPDS) are yet to be established. Proposed criteriar for offering BAP1 diagnostic testing are:
- An individual with two or more confirmed tumours that are associated with BAP1-TPDS:*
- BAP1-inactivated melanocytic tumour** (BIMT – a melanocytic tumour with loss of BAP1 protein expression)
- Malignant mesothelioma
- Uveal melanoma
- Renal cell carcinoma
- Rhabdoid meningioma
- One core BAP1-TPDS tumour* and one or more first or second degree relative(s) with a confirmed BAP1-TPDS tumour*
- The inclusion of BAP1 could be considered if panel gene testing is being offered to an individual with an isolated BAP1-TPDS-associated cancer
- Where a known germline pathogenic variant is identified in a relative^
- Where a specific pathogenic variant has been identified on somatic tumour testing^
^In these settings a variant-specific test (rather than sequencing a single gene or gene panel) may be more appropriate and cost effective.
* Whilst possible BAP-1 related tumours include cutaneous melanoma and basal cell carcinomas, based on their frequency in the community, these diagnoses alone are not sufficient to diagnose BAP1-TPDS. Other possible cancer associations with BAP1 include hepatocellular carcinoma and cholangiocarcinoma.
**Previous nomenclature included atypical Spitz tumour, melanocytic BAP1-associated intradermal tumour (MBAIT), nevoid melanoma-like proliferation, BAPoma
Genetic testing is important for good clinical care of individuals who are suspected of having a heritable pathogenic variant in this gene.