BRCA-mutant pancreatic ductal adenocarcinoma

Lai E.;Ziranu P.;Spanu D.;Dubois M.;Pretta A.;Tolu S.;Camera S.;Liscia N.;Mariani S.;Persano M.;Migliari M.;Donisi C.;Demurtas L.;Pusceddu V.;Puzzoni M.;Scartozzi M.

2021-01-01

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Abstract

Despite continued research, pancreatic ductal adenocarcinoma (PDAC) remains one of the main causes of cancer death. Interest is growing in the role of the tumour suppressors breast cancer 1 (BRCA1) and BRCA2—typically associated with breast and ovarian cancer—in the pathogenesis of PDAC. Indeed, both germline and sporadic mutations in BRCA1/2 have been found to play a role in the development of PDAC. However, data regarding BRCA1/2-mutant PDAC are lacking. In this review, we aim to outline the specific landscape of BRCA-mutant PDAC, focusing on heritability, clinical features, differences between BRCA1 and 2 mutations and between germline and sporadic alterations, as well as established therapeutic strategies and those that are still under evaluation.