From the Guidelines
Genetic testing for pancreatic cancer is recommended for all newly diagnosed pancreatic cancer patients, regardless of family history, as it can impact treatment decisions and provide valuable information for family members. This recommendation is based on the most recent and highest quality study, which suggests that universal genetic testing for pancreatic cancer patients is warranted due to the considerable rate of predisposing mutations in these individuals 1.
Key Points to Consider
- Genetic testing can identify genetic mutations that may impact treatment decisions, such as the use of PARP inhibitors like olaparib for those with BRCA mutations, or immunotherapy for those with microsatellite instability.
- The most commonly tested genes include BRCA1, BRCA2, PALB2, ATM, CDKN2A, STK11, and Lynch syndrome genes.
- Genetic testing typically involves a blood or saliva sample and should be accompanied by genetic counseling both before and after testing to help patients understand the implications of results for themselves and their family members.
- Pancreatic cancer surveillance may be considered for individuals who are first-degree relatives of individuals with familial pancreatic cancer and/or individuals with a family history of pancreatic cancer who carry a pathogenic germline variant in genes associated with predisposition to pancreatic cancer 1.
Benefits of Genetic Testing
- Can provide valuable information for family members
- Can impact treatment decisions
- Can help identify individuals at increased risk for pancreatic cancer
- Can help identify genetic mutations that may be associated with other cancers, such as breast, ovarian, or colorectal cancer.
Limitations of Genetic Testing
- Not all genetic mutations associated with pancreatic cancer can be detected by current testing methods
- Genetic testing is not a guarantee against developing pancreatic cancer
- The potential risks, benefits, uncertainties, and limitations of surveillance for pancreatic cancer should be discussed in detail with individuals who are being considered for pancreatic cancer surveillance prior to beginning such surveillance 1.
From the Research
Genetic Testing for Pancreatic Cancer
Genetic testing for pancreatic cancer is recommended in certain situations, as outlined below:
- Individuals with a family history of pancreatic cancer, particularly those with at least two first-degree relatives diagnosed with the disease 2, 3
- Those with inherited cancer syndromes, such as Peutz-Jeghers syndrome, hereditary pancreatitis, breast-ovarian cancer syndrome, and others 2, 3, 4
- Individuals with a personal history of breast, ovarian, or other cancers, as they may be at increased risk of developing pancreatic cancer 5, 4
High-Risk Individuals
High-risk individuals, including those with familial pancreatic cancer and inherited cancer syndromes, may benefit from genetic testing and screening to detect early-stage pancreatic cancer 2, 3, 4
- Genetic testing can identify germline variants of cancer-associated genes, such as BRCA1, BRCA2, PALB2, and CDKN2A 5
- The probability of testing positive for deleterious mutations in these genes ranges up to 10.4%, depending on family history of cancers 5
Clinical Applications
Genetic testing and screening for pancreatic cancer are becoming increasingly important in clinical practice 4, 6
- The American Society of Clinical Oncology and the National Comprehensive Cancer Network have updated their guidelines to include recommendations around genetic testing for patients with pancreatic cancer 4
- PARP inhibitors, which target tumor cells with homologous recombination repair deficiency, may be a promising treatment option for pancreatic cancer patients with BRCA gene mutations 6