Hereditary Cancer Panel Study Suggests Germline Mutations Missed in Some Pancreatic Cancers

CHICAGO (GenomeWeb) – Early results from a prospective study by investigators at Ambry Genetics, Beth Israel Deaconess Medical Center, the University of Pittsburgh, and HonorHealth/TGen suggest that the suite of genes that carry risky mutations in some pancreatic cancer patients may be broader than generally appreciated.

At the American Society of Clinical Oncology annual meeting this week, Beth Israel Deaconess Medical Center’s Mary Linton Bounetheau Peters presented findings for the first 239 individuals with pancreatic ductal adenocarcinoma (PDAC) who were evaluated for the study. The team ultimately plans to search for cancer-related germline mutations in 300 unselected individuals with PDAC diagnoses and wrapped up enrollment for the study.

In an effort to uncover new germline risk variants associated with PDAC, researchers are using Ambry’s CancerNext hereditary cancer gene sequencing panel to profile 32 genes previously implicated in pancreatic cancer and/or other cancer types in the PDAC patients using DNA extracted from blood or saliva samples. The resulting gene panel profiles are then considered alongside multi-generation pedigrees for the affected individuals, Peters explained.

“From a clinical standpoint, it’s helpful because we don’t know what we don’t know about pancreatic cancer and genetics,” she said. “So much of the work done to

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