Pancreatic cancer develops when abnormal cells in the pancreas grow uncontrollably, forming tumors. The pancreas, located behind the stomach, plays a key role in digestion and blood sugar regulation.
Hereditary pancreatic cancer occurs when genetic mutations increase the risk of developing the disease within a family. Having two or more first-degree relatives with pancreatic cancer significantly raises an individual’s risk. Genetic factors include mutations in genes such as BRCA1, BRCA2, PALB2, ATM, CDKN2A, MLH1, among others, as well as syndromes like Peutz-Jeghers, Lynch syndrome, and hereditary pancreatitis.
There are currently no reliable early detection methods for pancreatic cancer. However, genetic testing can provide valuable information about an individual’s risk by identifying specific DNA changes associated with an increased likelihood of developing the disease.
Individuals found to carry a pathogenic variant associated with hereditary pancreatic cancer can benefit from enhanced surveillance and preventive strategies to better manage their risk. The information gathered may also guide future clinical management decisions. Additionally, if a hereditary predisposition is identified, close relatives (such as children, siblings, or parents) could have up to a 50% chance of carrying the same risk, and testing may be recommended even from childhood.
By identifying genetic susceptibility early, patients and their families can make informed, proactive choices regarding risk management and prevention of pancreatic cancer.