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Ernesto Barzola Navarro,Emilio Vicente Lopez,Yolanda Quijano,Riccardo Caruso,Valentina Ferri,Hipolito Durand,Isabel Fabra Cabrera,Eduardo Diaz Reques,Benedetto Ielpo,Anastasiia Yuriyivna Glagoliev,Car 한국간담췌외과학회 2019 Annals of hepato-biliary-pancreatic surgery Vol.23 No.2
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.