Clinical Indication ID & Name
Inherited pancreatic cancer
Test Group
Inherited cancer
Specialties
Test code
R367.1
Test name
N/A
Target genes
Inherited pancreatic cancer (524)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Testing of affected individual (proband) where the individual +/- family history meets one of the following criteria. The proband has:
1. Pancreatic cancer age <60, OR
2. Pancreatic cancer age <70, AND
a. Breast cancer age <60, melanoma age <60, OR ovarian cancer, OR
b. One first / second degree relative with pancreatic cancer age <60, OR
c. Two first / second degree relatives with any of breast cancer age <60, melanoma age <60, OR
ovarian cancer OR
3. Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing
NOTE: The proband's cancer and majority of reported cancers in the family should have been confirmed. Pancreatic cancer is adenocarcinoma and not neuroendocrine tumour.
If there is a family history of BRCA related cancers (breast, ovarian, prostate and pancreatic), please consider if R208 Inherited Breast Cancer panel testing is required.
If there is a family history of melanoma, please consider if R254 Familial Melanoma panel testing is required.
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present
Test code
R367.2
Test name
N/A
Target genes
Inherited pancreatic cancer (524)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Testing of affected individual (proband) where the individual +/- family history meets one of the following criteria. The proband has:
1. Pancreatic cancer age <60, OR
2. Pancreatic cancer age <70, AND
a. Breast cancer age <60, melanoma age <60, OR ovarian cancer, OR
b. One first / second degree relative with pancreatic cancer age <60, OR
c. Two first / second degree relatives with any of breast cancer age <60, melanoma age <60, OR
ovarian cancer OR
3. Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing
NOTE: The proband's cancer and majority of reported cancers in the family should have been confirmed. Pancreatic cancer is adenocarcinoma and not neuroendocrine tumour.
If there is a family history of BRCA related cancers (breast, ovarian, prostate and pancreatic), please consider if R208 Inherited Breast Cancer panel testing is required.
If there is a family history of melanoma, please consider if R254 Familial Melanoma panel testing is required.
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present
Commissioning group
Specialised
Overlapping idications
• M219 Pancreatic cancer should be used for somatic testing
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form