People of Ashkenazi Jewish descent have a higher risk of developing pancreatic cancer because they are more likely to have the BRCA1 or BRCA2 mutation than other groups. These mutations increase a person’s lifetime risk of developing pancreatic cancer and some other types of cancer.

Knowing your risk can help lead to early diagnosis and better outcomes for those diagnosed. Here we take a closer look at BRCA1 and BRCA2 mutations and strategies to manage risk.

What is the connection between pancreatic cancer and Ashkenazi Jewish ancestry?

Ashkenazi Jews have a higher mutation rate in BRCA1 and BRCA2. These mutations, often called “breast cancer genes,” increase the risk of both men and women developing various types of cancer, including pancreatic, throughout their lives.

Data show that approximately one in 40 people of Ashkenazi Jewish descent carry a BRCA1 or BRCA2 mutation. According to recent studies, this rate is estimated to be 10 to 20 times higher than that of the general non-Ashkenazi Jewish population. research.

What are the BRCA1 and BRCA2 genes?

The BRCA1 and BRCA2 genes belong to a class of genes known as tumor suppressors that help control the growth of cells. Their job is to help correct any errors that may be present in DNA. When these genes are mutated, cells can grow uncontrollably, leading to the development of tumors.

Although the majority of BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population are inherited, they can also develop during a person’s lifetime due to modifiable risk factors such as smoking.

How are BRCA1 and BRCA2 mutations inherited?

Each person has two copies of the BRCA1 and BRCA2 genes; one copy from each parent. If a person’s parent has a BRCA1 or BRCA2 mutation, the child has a 50% chance of inheriting the same mutation.

If a person inherits two mutated copies of BRCA1 or BRCA2, they may develop a rare blood disorder known as Fanconi anemia. Fanconi anemia is very rare and can cause bone marrow failure as well as increase the risk of some types of cancer, including pancreatic.

What does it mean if I inherit a BRCA1 or BRCA2 mutation?

Having a mutated or defective copy of the BRCA1 or BRCA2 gene does not mean that a person will get pancreatic cancer. However, the risk is approximately 2 to 6 times higher than in those without the mutation. Additionally, people with a BRCA1 or BRCA2 mutation may develop pancreatic cancer at an earlier age than the general population.

Approximately 4-7% of patients with pancreatic adenocarcinoma (the most common type of pancreatic cancer) have a BRCA1 or BRCA2 mutation. Among Ashkenazi Jewish individuals with pancreatic cancer, studies show that approximately 5.5-19% have a BRCA1 or BRCA2 mutation.

The risk of developing pancreatic cancer varies depending on the mutated BRCA gene. The increased risk for BRCA1 mutations is estimated to be less than 5%, while BRCA2 mutations can increase a person’s risk of developing pancreatic cancer by approximately 5-10%. Screening is now recommended for those with germline mutations in ATM or BRCA2, even if they have no family history of the disease.

How can I find out if I inherited the BRCA1 or BRCA2 mutation?

Anyone concerned about the risk of inheriting BRCA1, BRCA2, or any genetic mutation that may increase the risk of developing pancreatic cancer should consult a genetic counselor. A genetic counselor is a healthcare professional who evaluates a person’s risk of developing inherited (inherited) diseases over time and can provide information on genetic testing. Depending on a person’s family history, a genetic counselor may recommend genetic testing to identify mutations that may be present. Genetic testing used to identify BRCA1 and BRCA2 mutations typically involves the person providing a blood or saliva sample to be tested.

Why is it useful for pancreatic cancer patients to know whether they have a BRCA1 or BRCA2 mutation?

Knowing whether a person with pancreatic cancer has inherited a BRCA1 or BRCA2 mutation is important to make the treatment plan as effective as possible because research has shown that pancreatic cancer patients with a BRCA1 or BRCA2 mutation may benefit from specific treatments.

It is also helpful for family members of pancreatic cancer patients to know their family medical history. High-risk individuals may need active surveillance/screening. Screening recommendations for each person usually depend on combined factors, such as a family medical history of pancreatic or other cancers, whether the person has any genetic mutations, and their age. Doctors will also consider the individual’s specific type of BRCA mutation, which should determine which screening may be appropriate. For example, according to National Comprehensive Cancer Network guidelines, those with a BRCA2 mutation are now recommended for screening even if they have no family history of the disease.

What if I have the BRCA1 or BRCA2 mutation and someone in my family has been diagnosed with pancreatic cancer?

If you are a first-degree relative (parent, child, or sibling) of someone diagnosed with pancreatic cancer, you may be at increased risk of developing pancreatic cancer. It is highly recommended that your family member with pancreatic cancer undergo genetic testing for inherited mutations. Negative results usually mean you don’t need to have genetic testing. If the results are positive, unknown, or if you have a close family member with cancer, PanCAN recommends consulting with a genetic counselor to determine whether you should undergo genetic testing for hereditary cancer risk and discuss surveillance options.

For more information about BRCA1 and BRCA2 mutations, how to find a genetic counselor in your area, genetic testing, and pancreatic cancer treatments, contact PanCAN Patient Services.

Contact PanCAN Patient Services for free, in-depth information about pancreatic cancer risk factors, genetic testing, genetic counseling, and screening and surveillance programs.