Germline Testing for Individuals With Pancreatic Cancer: The Benefits and Challenges to Casting a Wider Net

Prospective study of germline genetic testing in incident cases of pancreatic adenocarcinoma

“…30,31 Our findings confirm the limitations of current genetic testing criteria for identifying mutations in patients with PDAC and lend support for universal germline genetic testing in this population; this is analogous to the approach currently recommended for BRCA1 and BRCA2 testing in patients with epithelial ovarian cancer. The detection of clinically actionable mutations may inform therapeutic options as well as future cancer risks for family members.…”

“…Some have raised the question whether universal germline genetic testing for patients with PDAC is optimal. 30,31 Our findings confirm the limitations of current genetic testing criteria for identifying mutations in patients with PDAC and lend support for universal germline genetic testing in this population; this is analogous to the approach currently recommended for BRCA1 and BRCA2 testing in patients with epithelial ovarian cancer. 14…”

Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer

“…Diagnosing such germline variants can facilitate cancer prevention and increase early detection by signaling the need for enhanced surveillance and risk-reducing interventions in mutation carriers and their healthy relatives. 9 Furthermore, germline testing has growing therapeutic implications for individuals with advanced cancer, given the effectiveness of poly(ADP) ribose polymerase (PARP) inhibitors in patients with inherited mutations in dsDDR genes 10–12 and anti-PD-1 antibodies in patients with Lynch syndrome-associated cancers. 13,14…”

Family communication and patient distress after germline genetic testing in individuals with pancreatic ductal adenocarcinoma

“…Germline pathogenic variants have been identified in 4% to 19% of patients with pancreatic ductal adenocarcinoma (PDAC) . This finding has sparked robust discussion regarding the potential role of more frequent germline genetic testing in this population, and the National Comprehensive Cancer Network recently updated its BRCA1/2 testing criteria to include any individual diagnosed with pancreatic cancer, regardless of personal or family history . The American Society of Clinical Oncology recently published a provisional clinical guideline recommending the assessment of hereditary risk for all patients newly diagnosed with pancreatic cancer, a discussion of germline testing even for patients with an unremarkable family history, and panel testing for those individuals who choose to undertake germline testing .…”

“…[1][2][3][4][5][6][7] This finding has sparked robust discussion regarding the potential role of more frequent germline genetic testing in this population, and the National Comprehensive Cancer Network recently updated its BRCA1/2 testing criteria to include any individual diagnosed with pancreatic cancer, regardless of personal or family history. [8][9][10] The American Society of Clinical Oncology recently published a provisional clinical guideline recommending the assessment of hereditary risk for all patients newly diagnosed with pancreatic cancer, a discussion of germline testing even for patients with an unremarkable family history, and panel testing for those individuals who choose to undertake germline testing. 11 As genetic testing is more routinely used for patients with PDAC, it is important to consider the emotional impact of this process on patients and their families, and the potential for cascade testing of relatives to broaden the impact of test results.…”