This page was reviewed under our medical and editorial policy by
Eric Fowler, MS, LCGC, Manager, Clinical Genetics, Western Region & Licensed Certified Genetic Counselor
This page was reviewed on September 21, 2022.
Genetic conditions that increase cancer risks are called hereditary cancer syndromes. How much these conditions increase the risk of cancer and where in the body the cancer develops are different, depending on which syndrome you have.
Most pancreatic cancers are not inherited. In 2022, an estimated 62,210 adults (32,970 men and 29,240 women) in the United States will be diagnosed with pancreatic cancer, according to the American Cancer Society. About 10 percent, or one of every 10 of these people, will have hereditary or familial pancreatic cancer.
Familial pancreatic cancer (FPC) refers to families with a high rate of pancreatic cancer. Specifically, those with at least two first-degree relatives with pancreatic cancer or three members of the family who have pancreatic cancer are thought to have a genetic or familial link to the disease.
These genetic syndromes are caused by hereditary errors, called mutations, in the genetic code or DNA. Sometimes these mutations lead to cells growing uncontrollably and becoming cancerous tumors.
The pancreas is an organ in the abdomen that plays a vital role in metabolism. It releases hormones that help the body regulate how much sugar is in the blood and tells the body when to turn energy into fat and store it, or when to burn calories for fuel from stored fat. It also creates and releases digestive juices, which helps the body digest carbohydrates and fats.
About 60,430 new cases of pancreatic cancer will be diagnosed in 2021, and about 48,220 pancreatic cancer patients will die in 2021, according to the National Cancer Institute (NCI) Surveillance, Epidemiology, and End Results (SEER) database. About 11 percent of patients with pancreatic cancer are still alive five years after diagnosis, according to the SEER five-year relative survival rate. Remember that survival rates don’t predict how long any one person may live, but look at overall rates in large groups of people.
More than half of pancreatic cancer patients are first diagnosed with cancer when the tumor has already spread to distant parts of the body. If the cancer is found early, before it has spread, the five-year survival rate is much higher. About 42 percent of pancreatic cancer patients whose tumors haven’t spread out of the pancreas when they are first diagnosed are still alive five years later, according to SEER data.
For this reason, it’s important for people with a hereditary increased risk of developing pancreatic cancer to have their doctor regularly look for any developing tumors. Regular imaging of the pancreas may help detect these cancers early.
Inherited mutations in some genes have been linked to an increased risk for pancreatic cancer. These genes include:
These are germline mutations, which means they are found in the genetic material or DNA of every cell in the body of offspring. A variant from the germline can be passed from parent to child. Other types of genetic defects are acquired over the course of a lifetime and are not passed down from parent to child.
There is a wide variety of hereditary cancer syndromes linked to increased risk of developing pancreatic cancer, including those below.
Ataxia-telangiectasia, also called Louis-Bar syndrome, is a rare inherited disorder caused by inheriting two mutations in the ATM gene (one from each parent) that affects:
Symptoms of ataxia-telangiectasia often start before age 5. A person with this syndrome has trouble coordinating their movements, including experiencing problems walking and maintaining their balance.
People with ataxia-telangiectasia have tangles of tiny blood vessels that show up in the eyes and the surface of the skin. These patients are at an increased risk for several cancers. According to GeneReviews, the most common types of cancers that people with ataxia-telangiectasia develop are cancers of the blood cells and immune system, including lymphomas and leukemias.
People with ataxia-telangiectasia are more sensitive to X-rays and other types of radiation. As they’re living longer, researchers are seeing that these patients are at a higher risk of ovarian cancer, breast cancer, gastric cancer, melanoma, leiomyomas and sarcomas.
People with a single mutation in the ATM gene have increased risks for breast cancer and pancreatic cancer.
Inherited mutations in the BRCA1 and BRCA2 genes lead to a condition called hereditary breast and ovarian cancer (HBOC) syndrome. These genes usually work to suppress cells in certain organs and tissues that may become cancerous. When they’re broken (mutated), a person is more likely to develop breast, ovarian, and some other types of cancers.
People with mutations in the BRCA genes have up to a 65 percent risk of developing breast cancer by the age of 70, and up to a 39 percent risk of developing ovarian cancer by the age of 70, according to the U.S. Centers for Disease Control and Prevention.
Risks of developing other cancers are also increased, including pancreatic cancer, melanoma skin cancer, and, in men, prostate and male breast cancers.
Another type of hereditary breast cancer, caused by mutations in the PALB2 gene, is also linked to an increased risk of developing pancreatic cancer. The PALB2 gene works with the BRCA2 gene and the risks of breast, ovarian and pancreatic cancer are higher for people who have a PALB2 mutation.
An inherited condition typically linked to skin and eye cancers, Familial atypical multiple mole melanoma syndrome (FAMMM) is an inherited condition that, in addition to being associated with an increased risk of pancreatic cancer, causes an increased risk for melanomas to the skin and eyes.
This condition is sometimes caused by mutations in genes called the CDKN2A or CDK4 genes. But in many cases—about 60 percent, according to the Genetic and Rare Diseases Information Center—researchers haven’t found the specific mutations that cause the syndrome.
People with FAMMM usually have many atypical moles with irregular shape, color and size. The moles themselves aren’t cancerous, but people with FAMMM are more likely to develop melanoma.
People with mutations in the CDKN2A and CDK4 genes may have a higher risk of developing pancreatic cancer.
Hereditary pancreatitis causes inflammation of the pancreas (pancreatitis) that keeps recurring. It’s a rare genetic condition caused by mutations in the CASR, CFTR, CPA1, CTRC, PRSS1 and SPINK1 genes. These episodes of pancreatitis often come on suddenly, last up to three days, and cause abdominal pain, nausea, fever and vomiting.
Symptoms begin in late childhood and tend to worsen over time, developing into chronic pancreatitis by early adulthood. Inflammation creates scar tissue, which may affect how the pancreas works, leading to type 1 diabetes and other conditions. Having hereditary pancreatitis increases the risk for pancreatic cancer.
Lynch syndrome is a condition typically linked to colorectal cancer. It’s also known as hereditary non-polyposis colorectal cancer (HNPCC). It’s the most common inherited cause of colorectal cancer, and it also increases the risk of developing other cancers, including pancreatic cancer.
Several genes have been linked to Lynch syndrome, but it’s most often caused by a mutation in the MLH1 or MSH2 genes. The defective genes linked to Lynch syndrome normally play a role in fixing DNA that gets broken when it is copied before cells divide. When the DNA is broken and not repaired, cells may divide and grow uncontrollably, which can lead to cancer.
Peutz-Jeghers syndrome (PJS) is an inherited genetic condition that causes a certain type of polyp to grow in the digestive tract. These polyps are called hamartomatous polyps. They can be benign, but they can cause other health problems like GI blockages or bleeding. People with Peutz-Jeghers syndrome have an increased risk of developing cancer. The more common cancers are those of the:
Another symptom of this disorder that typically shows up in childhood is dark spots on the fingers, mouth and lips, and near the eyes and nose.
Peutz-Jeghers syndrome is caused by a broken STK11 gene. This gene typically stops cells from growing uncontrollably and developing into cancer. When the gene is broken, a person is more likely to get cancer.
This is a rare condition that causes tumors and fluid-filled cysts to grow in different parts of the body. These growths are typically benign, but some may be cancerous. They tend to develop in early adulthood and may lead to serious or even life-threatening health problems.
People with von Hippel-Lindau syndrome have an increased risk of developing cancer, particularly kidney cancer and pancreatic neuroendocrine tumors, which can be benign or cancerous.
The syndrome is relatively rare. It affects about 1 in 36,000 people, according to the National Library of Medicine (NLM). It’s caused by a mutation in the VHL gene, which normally would keep cells from growing out of control and becoming these tumors.
Patients with multiple endocrine neoplasia type 1 syndrome, also called MEN1 and Werner’s syndrome, develop multiple tumors. These tumors tend to be benign and show up in many of the endocrine glands, such as the pancreas and pituitary gland. They may also appear on the skin. These tumors can cause health problems even when they are benign.
MEN1 is a rare genetic disorder. About 1 in 30,000 people have MEN1, according to the National Institute of Diabetes and Digestive and Kidney Diseases. Approximately 40 percent of people with MEN1 develop cancers in the digestive tract, which can include pancreatic neuroendocrine tumors.
Li-Fraumeni syndrome is an inherited genetic condition that greatly increases a person's risk of getting several kinds of cancer. Breast cancer, brain cancer, leukemia, adrenal cancer and sarcomas are the ones often associated with the syndrome, but it’s also linked to an increased risk of pancreatic cancer, among others.
People with Li-Fraumeni syndrome can develop cancer at a young age and may have more than one cancer in their lifetime. They may also be more at risk to develop cancer from radiation therapy.
A person with LFS has a much greater lifetime risk of developing cancer. More than 70 percent of men and more than 90 percent of women with this syndrome develop cancer in their lifetime, according to GeneReviews. About 1 in 5,000 to 1 in 20,000 people worldwide have Li-Fraumeni syndrome, according to the NLM.
Li-Fraumeni syndrome is most often caused by mutations in the TP53 gene, which normally helps keep cells from dividing and growing out of control. When the gene is broken or mutated, cells grow uncontrollably and form tumors.
People with familial adenomatous polyposis (FAP) develop tens to hundreds, and sometimes thousands, of polyps in their gastrointestinal systems. The polyps grow most frequently in the colon and rectum. These polyps may become cancerous if not removed.
People with FAP often develop polyps at younger ages, sometimes as early as 10 or 12 years old. Most people with classic FAP, which triggers the formation of hundreds to thousands of colon polyps, will develop colon or rectal cancer unless they undergo surgery to remove the colon. They’re also at an increased risk of developing other cancers, including:
This syndrome is rare, affecting between 1 in 7,000 to 1 in 22,000 people, according to the NLM. FAP, and certain associated conditions like Gardner syndrome, are usually caused by changes or mutations in the APC gene, while related syndromes are linked to other genes.
A genetic mutation is found in, at most, 20 percent of families with familial pancreatic cancer, according to American Society of Clinical Oncology, but those with a family history of other cancers may be more likely to have an inherited risk. However, anyone diagnosed with pancreatic cancer should undergo genetic testing to look for inherited mutations as soon as possible after diagnosis. If such testing reveals inherited mutations, this is powerful information to share with family members.
If pancreatic cancer runs in your family, the suggested approach is to undergo annual imaging scans starting at age 50 or when you’re 10 years younger than your youngest relative was when diagnosed. These tests may spot pancreatic cancer early, when more treatment options are typically available.
Participation in genetic or family pancreatic cancer registries is also important. This will help researchers identify genetic mutations linked to familial pancreatic cancer and potentially develop a screening test in the future.