| Summary: | We evaluated the proportion of <i>BRCA 1</i>/<i>2</i> germline mutations in Korean patients with sporadic pancreatic ductal adenocarcinoma (PDAC) and its effect on the chemotherapeutic response of FOLFIRINOX. This retrospective study included patients who were treated at two tertiary hospitals between 2012 and 2020, were pathologically confirmed to have PDAC, and had undergone targeted next-generation sequencing-based germline genetic testing. Sixty-six patients were included in the study (24 men; median age 57.5 years). In the germline test, <i>BRCA 1</i>/<i>2</i> pathogenic mutations were found in nine patients (9/66, 13%, <i>BRCA 1</i>, <i>n</i> = 3; <i>BRCA 2</i>, <i>n</i> = 5; and <i>BRCA 1</i>/<i>2</i>, <i>n</i> = 1). There was no significant difference in the baseline characteristics according to <i>BRCA</i> mutation positivity. Among patients who underwent FOLFIRINOX chemotherapy, patients with a <i>BRCA 1</i>/<i>2</i> mutation showed a higher overall response rate than those without a <i>BRCA 1</i>/<i>2</i> mutation (71.4% vs. 13.9%, <i>p</i> = 0.004). Patients with a germline <i>BRCA 1</i>/<i>2</i> mutation showed longer progression-free survival than those without a <i>BRCA 1</i>/<i>2</i> mutation, without a significant time difference (18 months vs. 10 months, <i>p</i> = 0.297). Patients with a <i>BRCA 1</i>/<i>2</i> mutation in the germline blood test had a higher response rate to FOLFIRINOX chemotherapy in PDAC. The high proportion of <i>BRCA 1</i>/<i>2</i> germline mutations and response rate supports the need for germline testing in order to predict better treatment response.
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