Federico Monzon

Familial pancreatic cancer: an inheritable disease

Federico A. Monzon, MD, Invitae Medical Director of Oncology

This week, Invitae representatives will be on hand at the annual Seena Magowitz Foundation Golf Classic, which raises awareness and funds to help fight the battle against pancreatic cancer. By taking part in this event, we hope to help raise awareness of hereditary pancreatic cancer and support the foundation’s efforts to enable early detection, increased survival rate, awareness, and an eventual cure for pancreatic cancer.

Although most people do not think of pancreatic cancer as a hereditary condition, it’s estimated that as many as 5 to 10 percent of cases could be due to an inherited predisposition.1, 2 Familial pancreatic cancer is identified when two or more close relatives in a family, such as a parent and child, are affected by pancreatic cancer. In these cases, the genetic change associated with an increased risk for cancer can be passed down through the family from one generation to the next.3, 4

According to recent recommendations5 from the American College of Gastroenterology, individuals should be considered to be at risk for familial pancreatic adenocarcinoma, the most common type of pancreatic cancer, if they

  • have a known genetic syndrome associated with pancreatic cancer, including hereditary breast and ovarian cancer syndrome (HBOC), familial atypical multiple melanoma and mole (FAMMM) syndrome, Peutz-Jeghers syndrome (PJS), Lynch syndrome (LS), or other gene mutations associated with an increased risk of pancreatic adenocarcinoma; or
  • have two relatives with pancreatic adenocarcinoma, where one is a first-degree relative (parent/child or siblings); or
  • have three or more relatives with pancreatic cancer on the same side of the family; or
  • have a history of hereditary pancreatitis.

Most inherited causes of pancreatic cancer are associated with increased cancer risk in other parts of the body as well, including breast, ovary, colon, and skin. If your family history is suggestive of inherited pancreatic cancer based on the guidelines above, genetic testing could be helpful in identifying the cause. Genetic testing can also help develop an appropriate medical management plan focused on cancer prevention or early detection, and can also help clarify the risk for other family members. Talk to your healthcare provider if you are concerned about hereditary cancer.

Genetic counselors, specially trained healthcare providers skilled at explaining complex genetic concepts and analyzing family histories to understand disease risk, can also provide guidance as to whether genetic testing could be useful for you or your family. To locate a genetic counselor, visit the National Society of Genetic Counselors website and click on Find a Genetic Counselor. If a local genetic counselor is not available, Invitae offers telephone genetic counseling services.

More information is available on Invitae’s hereditary pancreatic cancer webpage and in this hereditary pancreatic cancer Q&A flyer, developed for the Seena Magowitz Foundation Golf Classic.


1 Hruban, RH, et al., Adv Surg. 2010; 44:293-311.
2 Permuth-Wey, J & Egan, KM, Fam Cancer. 2009: 8:109-117.
3 Brand, R.E, et al., Gut. 2007; 56:1460-1469.
4 European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer Entry Criteria. https://www.lctu.org.uk/LCTU_NET/Frontend/Default.aspx?Data=W1tRMjl1ZEdWdWRFbEVdXVtNakl6XVtbYkc5allXeGxdXVtPUT09XQ%3d%3d. Accessed May 2015.
5 Syngal, S, et al., Am J Gastroenterol. 2015; 110:223-262.