It’s All in the Genes: Pathogenic Variants Prevalence in Pancreatic Cancer

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Holly Magliochetti

Genetics Institute of America

Genetics Institute of America (GIA) is a national laboratory dedicated to heightening the awareness of early intervention and genetic screening to promote the longevity and quality of life outcomes.  


It’s All in the Genes:

Prevalence of Pathogenic Variants in Pancreatic Cancer Patients

Pancreatic Cancer
How prevalent are germline variants in pancreatic cancer and how do they affect your patient’s overall survival?
February 16, 2022

DELRAY BEACH, FL – Pancreatic cancer (PC) has one of the worst overall survival rates compared to other cancer types.1 With approximately 58,000 new cases diagnosed in the United States in 2020, the 5-year survival rate is lower than 10%.

A new study from researchers at Mayo Clinic, published by the American College of Gastroenterology, showed that 1 in 6 patients with pancreatic cancer have a germline pathogenic variant (PGV) that could affect their treatment plan and overall survival.2 Data from this multi-center study suggests that, “overall, 68% of PGV carriers had mutations in homologous recombination repair (HRR) genes, including BRCA1, BRCA2, PALB2, ATM, CHEK2, NBN, and RAD51C.”2 This is of high interest, because new targeted therapies for HRR PGV carriers, like PARP inhibitors and the use of platinum-based therapies, have shown promising positive results. Researchers from this study noticed a better trend in overall survival in PGV carriers, when compared to non-carriers.2 They attribute this improved trend to increased response to specific therapies used during the patient’s course of treatment.

Data analysis showed that the earlier positive PGVs are identified, the higher the average 5-year survival rate. Additionally, the early discovery survival rate increases over 50% versus positive PGVs discovered late in treatment.

The study concluded saying, “multi-gene germline testing should be offered to all patients with Pancreatic cancer (regardless of stage, family history, or age at onset) the findings of which can be used for disease prognosis, treatment selection, and familial cancer counseling.”2

  1. American Cancer Society. Cancer facts & figures 2019. Published 2019. Accessed February 11, 2022.
  2. Uson PLS Jr, Samadder NJ, Riegert-Johnson D, et al. Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study. Clin Transl Gastroenterol. 2021;12(10):e00414. Published 2021 Oct 8. doi:10.14309/ctg.0000000000000414
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