More BRCA-positive patients should be screened for pancreatic cancer, according to new practice guidelines. While screening was formerly restricted to those individuals with BRCA-1 or BRCA-2 with a family history of pancreatic cancer, the new guidelines expand the recommendation to anyone with the gene variations regardless of family history.
“Because less than 25 percent of patients with BRCA 1/2 who develop pancreatic cancer have family history of pancreatic cancer, most cancers will be missed if screening is restricted to those with a family history” said first author of the guidelines Mandeep S. Sawhney, MD, MS, a gastroenterologist at BIDMC and associate professor of medicine at Harvard Medical School.
The guidelines were issued recently by the American Society for Gastrointestinal Endoscopy (ASGE) Standards of Practice Committee.
Diagnosis at earlier stages of pancreatic cancer is associated with improved survival, with 93% 10-year survival among stage 0 cancers and 34% to 39% 5-year survival among stage I cancers.
However, by the time patients develop symptoms, almost 80% have advanced disease that is inoperable.
The new guidelines aim to shift the time to diagnosis.
Pancreatic cancer is a rare but lethal cancer with a lifetime incidence of approximately 1.6% and 5-year survival of 10%. Pancreatic cancer accounts for 3% of all newly diagnosed cancers and 8% of all cancer-related deaths in the United States in 2020, and the incidence is anticipated to rise over the next decade.
“Biologically aggressive behavior, advanced stage at the time of diagnosis, and poor response to oncologic therapies have been proposed as reasons for dismal outcomes in pancreatic cancer,” the guideline authors write.
By the year 2030, pancreatic cancer is expected to become the second most common cause of cancer deaths for both men and women in the United States, they also noted.
This American Society for Gastrointestinal Endoscopy (ASGE) guideline, the authors say, provides evidence-based recommendations on screening for pancreatic cancer in individuals with genetic susceptibility.
“Although pathogenic germline variants in several genes have been associated with increased risk for pancreatic cancer,” they write, “these guidelines focus on BRCA1 and BRCA2 because of their higher prevalence in the population.”
This type of cancer has also been more strongly tied to BRCA mutations recently, including through a recent study of almost 3,200 families with one or more members with the BRCA1 mutation and almost 2,200 families carrying the BRCA2 mutation These researchers found that carrying a defective copy of either BRCA1 or BRCA2 more than doubled an individual’s risk of pancreatic cancer to 2.5–3% by age 80.
While considered uncommon, inherited gene mutations can increase a person’s risk of developing pancreatic cancer. Early detection of cancer is key to a greater chance of survival, but it is difficult to catch pancreatic cancer early as people usually have no symptoms until the cancer has advanced and hard to treat.
Noted Sawhney, “Although screen-detected pancreatic cancers are more likely to be diagnosed at an earlier and more treatable stage, it is important to acknowledge the potential downsides of screening. These guidelines are the first to quantify harms from pancreatic cancer screening resulting from false-positive screening tests results and encourage care providers to carefully counsel their patients before enrolling in a screening program.”