Clinical Indication ID & Name
BAP1 associated tumour predisposition syndrome
Test Group
Inherited cancer
Specialties
Test code
R422.1
Test name
N/A
Target genes
BAP1
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Individual has ONE of the following:
1. Individual with a personal history of two or more core BAP1 associated tumours (mesothelioma, uveal
melanoma, cutaneous melanoma, renal cell cancer or BAP1 inactivated melanocytic tumour- BIMT)
(excluding two cases of melanoma)
2. Individual with a personal history of two or more inactivated melanocytic tumours (BIMT) (Also known as
BAPoma, atypical Spitz naevus, Melanocytic BAP1-associated intradermal tumor (MBAIT) or nevoid
melanoma-like melanocytic proliferation (NEMMP)
3. Individual with a personal history of a BAP1 associated tumour and a first degree relative with a BAP1
core associated tumour (mesothelioma, uveal melanoma, cutaneous melanoma, renal cell cancer or
BAP1 inactivated melanocytic tumour- BIMt) (excluding two cases of melanoma or renal cancer)
4. 5. Individual with mesothelioma (less than 60 years) in the absence of asbestos exposure
Individual with uveal melanoma (<40 years)
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
BAP1 associated tumours= uveal melanoma, cutaneous melanoma, basal cell cancer, BAP1-inactivated
melanocytic tumors (BIMT), malignant mesothelioma (lung or peritoneal), renal cell carcinoma, meningioma,
cholangiocarcinoma or hepatocellular carcinoma.
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.
Test code
R422.2
Test name
N/A
Target genes
BAP1
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Individual has ONE of the following:
1. Individual with a personal history of two or more core BAP1 associated tumours (mesothelioma, uveal
melanoma, cutaneous melanoma, renal cell cancer or BAP1 inactivated melanocytic tumour- BIMT)
(excluding two cases of melanoma)
2. Individual with a personal history of two or more inactivated melanocytic tumours (BIMT) (Also known as
BAPoma, atypical Spitz naevus, Melanocytic BAP1-associated intradermal tumor (MBAIT) or nevoid
melanoma-like melanocytic proliferation (NEMMP)
3. Individual with a personal history of a BAP1 associated tumour and a first degree relative with a BAP1
core associated tumour (mesothelioma, uveal melanoma, cutaneous melanoma, renal cell cancer or
BAP1 inactivated melanocytic tumour- BIMt) (excluding two cases of melanoma or renal cancer)
4. 5. Individual with mesothelioma (less than 60 years) in the absence of asbestos exposure
Individual with uveal melanoma (<40 years)
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
BAP1 associated tumours= uveal melanoma, cutaneous melanoma, basal cell cancer, BAP1-inactivated
melanocytic tumors (BIMT), malignant mesothelioma (lung or peritoneal), renal cell carcinoma, meningioma,
cholangiocarcinoma or hepatocellular carcinoma.
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.
Commissioning group
Specialised
Overlapping idications
• R254 Familial melanoma • R214 Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome • R224 Inherited renal cancer
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old