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Germline mutations common among patients with pancreatic cancer, previous cancer history
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Nearly one in five patients with pancreatic cancer and a history of Lynch syndrome-related or hereditary breast or ovarian cancers tested positive for a genetic mutation that made them susceptible to pancreatic cancer, according to recently published findings.
Mutations in a number of genes, including APC, ATM, BRCA1, BRCA2, CDKN2A and mismatch repair genes, as well as PALB2, STK11 and TP53 have previously been linked with an increased risk for pancreatic cancer.
“Historically, individuals with [pancreatic adenocarcinoma] have been seldom referred to genetic counseling for several reasons,” Beth Dudley, MS, MPH, adjunct instructor of human genetics in the department of medicine at University of Pittsburgh, and colleagues wrote in Cancer.
These reasons included the fact that single gene testing produced a relatively low yield, because many genes associated with pancreatic cancer were responsible for just a small portion of cases. Further, genetic testing would not change the course of cancer treatment, the researchers wrote.
“With the advent of multigene panel tests, the ability to quickly and cost-effectively analyze all of the genes associated with [pancreatic cancer] risk has increased the yield of genetic testing,” Dudley and colleagues wrote.
The researchers selected 1,296 patients with pancreatic cancer from a previous University of Pittsburgh study. Of these, 149 had a relevant cancer history. The researchers performed multigene panel tests on patients who had available banked DNA, and who had not previously had a mutation identified in testing.
Of 124 patients who underwent genetic testing and had a history of pancreatic cancer and another Lynch syndrome-related or hereditary breast or ovarian cancer, 18% (n = 22) had mutations that made them susceptible to pancreatic cancer.
When the researchers excluded prostate cancer from the analysis, the prevalence of these mutations rose to 23% (n = 21 of 93).
Patients with mutations appeared more likely to have multiple previous cancer diagnoses (P = .001), and to have undergone genetic testing (P = .001). They also appeared more likely to meet genetic testing criteria as defined by the National Comprehensive Cancer Network (P < .001).
Nearly one-fourth (23%) of patients who carried mutations did not meet the NCCN’s criteria for genetic testing for hereditary breast or ovarian cancer or Lynch syndrome based either on their own cancer history or that of their first-degree relatives.
“When taken into account with data from previous studies, our results suggest it is reasonable to consider multigene panel testing for any individual with [pancreatic cancer] who has a personal history of another [hereditary breast or ovarian cancer or Lynch syndrome-related cancer], although further prospective studies need to be performed to validate these findings,” Dudley and colleagues wrote. – by Andy Polhamus
Disclosures: Dudley and other authors reports nonfinancial support from Invitae in the form of gratis genetic test results. Please see the study for a full list of all other authors’ relevant financial disclosures.
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