Medical Oncology Unit, University Hospital and University of Cagliari, Cagliari, Italy.
Medical Oncology Unit, Sapienza University of Rome, Rome, Italy.
Br J Cancer. 2021 Nov;125(10):1321-1332. doi: 10.1038/s41416-021-01469-9. Epub 2021 Jul 14.
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.
尽管不断有研究，但胰腺导管腺癌 (PDAC) 仍然是癌症死亡的主要原因之一。人们对肿瘤抑制因子乳腺癌 1 (BRCA1) 和 BRCA2 的作用越来越感兴趣——它们通常与乳腺癌和卵巢癌有关——在 PDAC 的发病机制中。事实上，BRCA1/2 的种系和散发性突变已被发现与 PDAC 的发展有关。然而，关于 BRCA1/2 突变型 PDAC 的数据仍然缺乏。在这篇综述中，我们旨在概述 BRCA 突变型 PDAC 的特定特征，重点关注遗传性、临床特征、BRCA1 和 2 突变之间以及种系和散发性改变之间的差异，以及已确立的治疗策略和仍在评估中的策略。
