Study: Benefit of pancreatic cancer screening

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

Relevance Rating Details

What is this study about?

This research study looked at how well screening for pancreatic cancer found cancer in people with an inherited BRCA1 or BRCA2 mutation. It also looked at the health outcomes for people who were diagnosed with pancreatic cancer during the study.

Why is this study important?

Expert guidelines outline screening recommendations for people at high-risk for pancreatic cancer.  Guidelines created by different expert groups may sometimes differ slightly. Currently, four organizations have guidelines related to pancreatic cancer screening. These guidelines are frequently updated based on new research. 

The National Comprehensive Cancer Network (NCCN) guidelines recommend screening for pancreatic cancer for all people with an inherited mutation in an STK11 or CDKN2A gene, regardless of their family history.  For people with other inherited mutations, including BRCA1 or BRCA2, the NCCN recommends screening only when a close family member (a first-degree relative or second-degree relative) has been diagnosed with pancreatic cancer. However, the American Society for Gastrointestinal Endoscopy (ASGE) guidelines suggest screening for people with an inherited BRCA1 or BRCA2 mutation regardless of family history.

Guidelines may conflict when research evidence is insufficient for all experts to agree on the best approach to care.

This study focused on BRCA1 and BRCA2 mutation carriers. The findings may help clarify whether pancreatic cancer screening improves outcomes, specifically for people with inherited mutations in BRCA1 and BRCA2.

Study findings

This study included 180 people. Fifty-seven (32%) had a BRCA1 mutation and 121 (67%) had a BRCA2 mutation. Two (1%) had both a BRCA1 and BRCA2 mutation. Twelve participants (7%) had an inherited mutation in another gene (APC, MSH6 or MSH2) that increased risk in addition to a mutation in BRCA1 or BRCA2. Of the 180 participants, sixty-four participants (35%) did not have a family history of pancreatic cancer.

Most (82%) of the participants were Ashkenazi Jewish. Almost 70% of these participants had one of the three common BRCA1 and BRCA2 Ashkenazi Jewish mutations. 

Participants were screened every year with one of two types of pancreatic cancer screening:

• Endoscopic ultrasound (EUS): A special procedure done under conscious sedation using a small ultrasound attached to an endoscope.
• MRCP (magnetic resonance cholangiopancreatography): A special type of MRI imaging test to look at the pancreas and surrounding structures. 

Screening was done at six large academic centers in Israel from 2011 to 2021:

At the first screening and follow-up screening, 48 participants (27%) had an abnormal finding. Of these:

• 40 had pancreatic cysts. While pancreatic cysts are not cancer, some are precancerous, which means that they could develop into pancreatic cancer.
• 8 had cancer found with pancreatic screening (and all 8 had a BRCA2 mutation):
  • 4 had pancreatic cancer.
  • 4 had pancreatic neuroendocrine tumors (NETs).
     

The results of the screenings were as follows:

Pancreatic neuroendocrine tumors (NETs), also called islet cell tumors, are less common types of pancreatic cancers. They make up less than 2 percent of pancreatic cancers but tend to have a better outlook (prognosis) than the more common type.

While few pancreatic cancers were detected in this study, most (75 percent) were at an early stage when they could be surgically removed. Only 15-20 percent of pancreatic cancers in the US are detected at an early stage.

Among people with a BRCA2 mutation, screening detected cancer at an early stage when the cancer could be removed by surgery.

What does this mean for me?

If you have an inherited mutation in a gene that increases your risk for pancreatic cancer or if someone in your family has such a mutation or has been diagnosed with pancreatic cancer, you should discuss with your healthcare provider or genetic counselor whether or not to have pancreatic cancer screening. Pancreatic cancer screening is highly specialized, so if you do decide to have screening, experts recommend having your screening done at a hospital with considerable experience in screening for pancreatic cancer.

While a family history is important in determining an individual’s cancer risk, not all people know their family history. Research is ongoing to identify those who are most at risk and in need of screening, but  results from this study show that having screening for individuals with BRCA1 or BRCA2 mutations can lead to successful earlier detection of pancreatic cancer.

Reference

Laish I, Schechter M, Dancour A, Lieberman S, et al. The benefit of pancreatic cancer surveillance in carriers of germline BRCA1/2 pathogenic variants. Cancer. 2023 Oct 20. doi: 10.1002/cncr.35052. Epub ahead of print. PMID: 37861363.

Sawhney M, Calderwood A, Thosani C, et al. ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations. Gastrointestinal Endoscopy Online; 2022; 5(95).

Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. American Journal of Gastroenterology: 2015; 110(2), 223-263.

Disclosure: FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.

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