When choosing genes to include in a gene panel, care should be taken to select genes which have both clinical validity and clinical utility for the phenotype of concern.
The likelihood of identifying a variant of uncertain significance increases as the number of genes included in a panel increases.
Genes associated with pancreatic cancer |
Gene*** |
Comments |
ATM |
Lack of data re penetrance and surveillance; if pathogenic variant identified need to make a careful assessment of residual risk for relatives who are non-carriers
eviQ risk management guidelines have been developed^^
|
BRCA1 |
International and eviQ guidelines BRCA1 or BRCA2 female and male have been developed^^
Potential treatment implications for cancer affected individuals
|
BRCA2 |
International and eviQ guidelines BRCA1 or BRCA2 female and male have been developed^^
Potential treatment implications for cancer affected individuals
|
CDKN2A |
International consensus and eviQ risk management guidelines have been developed^^
|
Mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM^) |
International consensus and eviQ guidelines for risk management have been developed^^
Potential treatment implications for cancer affected individuals
|
PALB2 truncating pathogenic variants |
International consensus and eviQ guidelines for risk management have been developed^^
Potential treatment implications for cancer affected individuals
|
STK11 |
Can usually identify by clinical phenotype
eviQ risk management guidelines have been developed^^
|
TP53 |
International consensus and eviQ guidelines for risk management have been developed^^
|
***Genes are listed alphabetically; the order of listing does not give any indication of the clinical validity/utility of testing the gene
^“EPCAM” refers to a deletion in EPCAM affecting MSH2 function
^^Guidelines for risk management have been developed for this gene, but may not include pancreatic cancer risk management
***Genes are listed alphabetically; the order of listing does not give any indication of the clinical validity/utility of testing the gene
^^ Guidelines for risk management have been developed for this gene, but may not include pancreatic cancer risk management
Genes associated with hereditary pancreatitis |
Gene*** |
Comment |
PRSS1 |
Can usually identify by clinical phenotype
|
SPINK1 |
Can usually identify by clinical phenotype
|
***Genes are listed alphabetically; the order of listing does not give any indication of the clinical validity/utility of testing the gene