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Article

BRCA 1/2 Germline Mutation Predicts the Treatment Response of FOLFIRINOX with Pancreatic Ductal Adenocarcinoma in Korean Patients

1
Department of Internal Medicine, Division of Gastroenterology, Yonsei University College of Medicine, Seoul 03722, Korea
2
Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea
*
Authors to whom correspondence should be addressed.
Academic Editors: Vincenza Barresi and Robert C. Bast
Cancers 2022, 14(1), 236; https://doi.org/10.3390/cancers14010236
Received: 2 November 2021 / Revised: 28 December 2021 / Accepted: 28 December 2021 / Published: 4 January 2022
(This article belongs to the Special Issue Inside Cancer Genomics: From Structure to Therapy)
In pancreatic ductal adenocarcinoma, FOLFIRINOX and nab-paclitaxel are recommended as first-line chemotherapy regimens. However, there are limited data to predict the efficacy of the FOLFIRINOX regimen in patient outcomes. Platinum-based chemotherapy is tolerable and responsible in patients with DNA damage repair gene mutations. However, data are still limited, and no Asian data are available yet. Here, we sought to investigate the proportion of germline BRCA 1/2 mutations in patients with germline blood tests. Finally, we investigated the treatment response of FOLFIRINOX in patients with BRCA 1/2 mutations. We found that the presence of germline BRCA 1/2 mutations was associated with an improved overall response rate in pancreatic ductal adenocarcinoma patients treated with FOLFIRINOX. The high response rate in this analysis supports the preferential use of FOLFIRINOX therapy for patients harboring a BRCA germline mutation, and supports the need for early germline testing in order to select the best therapy.
We evaluated the proportion of BRCA 1/2 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, BRCA 1/2 pathogenic mutations were found in nine patients (9/66, 13%, BRCA 1, n = 3; BRCA 2, n = 5; and BRCA 1/2, n = 1). There was no significant difference in the baseline characteristics according to BRCA mutation positivity. Among patients who underwent FOLFIRINOX chemotherapy, patients with a BRCA 1/2 mutation showed a higher overall response rate than those without a BRCA 1/2 mutation (71.4% vs. 13.9%, p = 0.004). Patients with a germline BRCA 1/2 mutation showed longer progression-free survival than those without a BRCA 1/2 mutation, without a significant time difference (18 months vs. 10 months, p = 0.297). Patients with a BRCA 1/2 mutation in the germline blood test had a higher response rate to FOLFIRINOX chemotherapy in PDAC. The high proportion of BRCA 1/2 germline mutations and response rate supports the need for germline testing in order to predict better treatment response. View Full-Text
Keywords: breast cancer gene; BRCA; FOLFIRINOX; pancreatic ductal adenocarcinoma breast cancer gene; BRCA; FOLFIRINOX; pancreatic ductal adenocarcinoma
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MDPI and ACS Style

Park, J.H.; Jo, J.H.; Jang, S.I.; Chung, M.J.; Park, J.Y.; Bang, S.; Park, S.W.; Song, S.Y.; Lee, H.S.; Cho, J.H. BRCA 1/2 Germline Mutation Predicts the Treatment Response of FOLFIRINOX with Pancreatic Ductal Adenocarcinoma in Korean Patients. Cancers 2022, 14, 236. https://doi.org/10.3390/cancers14010236

AMA Style

Park JH, Jo JH, Jang SI, Chung MJ, Park JY, Bang S, Park SW, Song SY, Lee HS, Cho JH. BRCA 1/2 Germline Mutation Predicts the Treatment Response of FOLFIRINOX with Pancreatic Ductal Adenocarcinoma in Korean Patients. Cancers. 2022; 14(1):236. https://doi.org/10.3390/cancers14010236

Chicago/Turabian Style

Park, Ji H., Jung H. Jo, Sung I. Jang, Moon J. Chung, Jeong Y. Park, Seungmin Bang, Seung W. Park, Si Y. Song, Hee S. Lee, and Jae H. Cho. 2022. "BRCA 1/2 Germline Mutation Predicts the Treatment Response of FOLFIRINOX with Pancreatic Ductal Adenocarcinoma in Korean Patients" Cancers 14, no. 1: 236. https://doi.org/10.3390/cancers14010236

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