There are approximately 43,000 new cases of pancreatic cancer diagnosed in the United States each year,151 some of which are hereditary and caused by a gene mutation that can be passed from generation to generation. Pancreatic cancer can be seen in different hereditary cancer syndromes; therefore, it is important to take a complete family history and evaluate which genetic syndrome is most appropriate. When predominantly pancreatic cancer is seen, the most common known causes are mutations in the PALB2 and BRCA2 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 BRCA2and 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.