Hereditary Pancreatic CancerApproximately 46,000 new cases of pancreatic cancer are diagnosed in the U.S. each year, some of which are caused by a gene mutation that can be passed from generation to generation. Pancreatic cancer can be present in different hereditary cancer syndromes. When pancreatic cancer is the predominant cancer in a family, the most common known causes are mutations in the PALB2, BRCA2 and p16 genes. The BRCA2 gene produces a protein that normally prevents cells from becoming malignant by aiding in the repair of mutations in other genes through a process known as double-stranded DNA repair. The PALB2 gene, named because it is a "Partner And Localizer of BRCA2," produces a protein that interacts with BRCA2 and is also involved in DNA repair. Therefore, an inherited mutation in either of these genes, also known as tumor suppressor genes, increases the probability of malignant transformation and cancer. Mutations in PALB2 and BRCA2 are inherited in an autosomal dominant pattern. When assessing hereditary cancer risk, a patient's personal and family history is collected to investigate the risk for hereditary pancreatic cancer. If predominantly pancreatic cancer is seen, genetic testing for PALB2 and BRCA2 may be appropriate.
PANEXIA® TestingPANEXIA® testing assesses a person’s risk of developing hereditary pancreatic cancer. PANEXIA® offers insights about the risk of future hereditary cancers for patients and their families. PANEXIA® analyzes the PALB2 and BRCA2 genes, the two genes most commonly mutated in families with hereditary pancreatic cancer. Because pancreatic cancer can be present in multiple hereditary cancer syndromes, it could also be useful to use a gene panel test such as Myriad myRisk™ to identify patients who may be at greatest risk so they can take steps to lower their risk.
Identifying Patients at Risk for Hereditary Pancreatic CancerFinding patients who have germline mutations in the PALB2 and BRCA2 genes may provide valuable information about cancer risks to patients and their family members. The following "Red Flags" in a patient's personal or family history may indicate an increased risk for a PALB2 or BRCA2 mutation. Red Flags identify patients at risk for a PALB2 or BRCA2 mutation, for whom further clinical evaluation to determine appropriateness of genetic testing is warranted.
- Pancreatic cancer patient with at least one close relative with pancreatic cancer
- Individual with two or more close relatives with pancreatic cancer
- Individual of Ashkenazi Jewish ancestry with a personal history of pancreatic cancer or a first-degree relative with pancreatic cancer
- A previously identified PALB2 or BRCA2 mutation in the family
Benefits of PANEXIA® TestingThe results of the PANEXIA® test enable the development of a patient-specific medical management plan to reduce the risk of cancer. A positive result with PANEXIA® may allow you to:
- Target screening and surveillance specifically to individuals with a BRCA2 or PALB2 gene mutation
- Improve patient and their family member's compliance with tailored screening recommendations and preventive measures
- Improve outcomes through prevention, earlier diagnosis and treatment of specific cancers, should they develop
- Counsel patients and their family members on the underlying cause of mutation-related cancers in their family
- Avoid unnecessary interventions for family members who do not test positive for the mutation known to be in the family
Managing Patients with Hereditary Pancreatic CancerIf PANEXIA® testing confirms the presence of a BRCA2 or PALB2 mutation, the following medical management options may help reduce cancer risk and may either delay the onset of cancer, detect cancer at an earlier, more treatable stage or even prevent it. Positive PALB2 Gene Mutation Results:
- Increased surveillance for pancreatic cancer in mutation carriers Positive BRCA2 Gene Mutation Results:
- Increased surveillance for pancreatic cancer in mutation carriers
- Increased surveillance for ovarian cancer in mutation carriers
- Risk reducing medications for mutation carriers
- Prophylactic surgery in mutation carriers