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Impact of BRCA1/2 gene mutations on survival of patients with pancreatic cancer: A case-series analysis
Ann Hepatobiliary Pancreat Surg 2019 May;23(2):200-5
Published online May 31, 2019;  https://doi.org/10.14701/ahbps.2019.23.2.200
Copyright © 2019 Korean Association of Hepato-Biliary-Pancreatic Surgery.

Ernesto Barzola Navarro1, Emilio Vicente L?pez1, Yolanda Quijano1, Riccardo Caruso1, Valentina Ferri1, Hipolito Durand1, Isabel Fabra Cabrera1, Eduardo Diaz Reques1, Benedetto Ielpo1, Anastasiia Yuriyivna Glagolieva2, Carlos Plaza3

1Department of General and Digestive Surgery, Hospital Universitario Madrid Sanchinarro, Madrid, Spain, 2Department of Surgery and General Surgery, Shupyk National Medical Academy of Postgraduate Education, Kyiv, Ukraine, 3Department of Pathology, Hospital Universitario Madrid Sanchinarro, Madrid, Spain
Received September 3, 2018; Revised December 10, 2018; Accepted December 14, 2018.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
 Abstract
BRCA gene mutations are found in up to 10% of pancreatic adenocarcinoma cases. We present a description of 4 cases along with a review of the current literature regarding pathogenesis, target treatment, response and survival rates in these types of malignancies. We describe four cases of pancreatic adenocarcinoma, in three of which the BRCA2 mutation was identified, in one - BRCA1 gene alteration. Two patients underwent surgery following the neoadjuvant treatment with Folfirinox and radiotherapy; in the first case, a distal pancreatectomy with splenectomy was performed and in the second one - the Whipple’s procedure. In both cases, a complete pathological response was reported. Other 2 patients were treated with Folfirinox after BRCA mutation identification and acceptable life expectancy was obtained. The association of pathologic complete response (PCR) with lower rates of local recurrence and better survival in patients with various types of adenocarcinomas is well known. Identification of such patients carrying BRCA mutations could provide an application of better personalized treatment. In some patients with pancreatic cancer, especially when there is clinical or demographic reason to suspect a genetic predisposition, a confirmation of the presence of BRCA mutations could provide an opportunity to use target treatment with beneficial outcomes regarding survival.
Keywords : Pancreatic adenocarcinoma; BRCA mutations; Cisplatin; Folfirinox; Pathologic complete response