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Clinical Implications of Germline Testing in Pancreatic Cancer
DELRAY BEACH, FL – According to the National Cancer Institute (NCI), there will be almost 65,000 new cases of pancreatic cancer diagnosed this year within the United States. Unfortunately, NCI also reports an approximate five-year survival rate of 12.5% for those pancreatic cancer patients. Many researchers are now focused on how to improve the overall survival rate and, “as we move into an era of precision medicine, germline testing for all individuals with newly diagnosed PDAC [pancreatic ductal adenocarcinoma] is becoming an integral part of the initial workup at the time of diagnosis.”1
Germline pathogenic variants (PVs) are found in approximately 10% of PDAC patients, and sometimes as high as 19%.1 PVs in PDAC patients are most often found in BRCA1, BRCA2, ATM, PALB2, MLH1, MSH6, PMS2, CDKN2A, TP53, and EPCAM.1 Identification of germline PVs are vital to understanding the therapeutic benefit of new targeted treatments, such as platinum-based, PARPi, and checkpoint inhibitor therapy, and the cascade effects on family members. Researchers from Dana Farber Cancer Institute, Harvard Medical School and Yale School of Medicine, “identified statistically significant and superior overall survival in carriers of DNA damage response gene mutations when compared with non-carriers, with median overall survival of 34.4 versus 19.1 months, respectively, suggesting that germline testing might carry prognostic benefit.”1
Due to bettered prognosis and availability of targeted treatment, both the “American Society of Clinical Oncology [ASCO] and the National Comprehensive Cancer Network [NCCN] guidelines recommend risk assessment [including germline genetic testing] for all individuals with PDAC irrespective of personal or family history or ethnicity.”1
- Rainone M, Singh I, Salo-Mullen EE, Stadler ZK, O’Reilly EM. An Emerging Paradigm for Germline Testing in Pancreatic Ductal Adenocarcinoma and Immediate Implications for Clinical Practice: A Review. JAMA Oncol. 2020;6(5):764-771. doi:10.1001/jamaoncol.2019.5963