Department of Medical Oncology, IRCCS Istituto Romagnolo per lo Studio dei Tumori "Dino Amadori" - IRST, 47014, Meldola, Italy.
Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori "Dino Amadori" - IRST, 47014, Meldola, Italy.
BMC Cancer. 2021 May 26;21(1):611. doi: 10.1186/s12885-021-08368-5.
Pancreatic cancer (PC) is a major cause of cancer death. In an effort to improve treatment strategies and outcomes, DNA damage repair (DDR) pathways have been introduced as a new target in PC and in other cancers, through the exploitation of synthetic lethality. Furthermore, genes involved in DDR are among the major determinants of cancer susceptibility. In addition to the well-known BRCA1 and BRCA2 genes, a plethora of other targets in the same pathways are now emerging.
We analyzed samples from 60 patients, affected by PC and already tested for BRCA, using a panel with 24 other cancer susceptibility genes.
We detected 8 pathogenic or likely pathogenic mutations (13.3% of samples analyzed), 4 of which were found in non-BRCA genes (2 in ATM, 1 each in PALB2 and RAD50). Furthermore, 4 pathogenic or likely pathogenic mutations were found in patients without a personal or familial history of cancer.
Our results suggest that genetic testing with a comprehensive gene panel should be perfomed in all patients with PC, in order to allow screening for PC and other gene-related cancers in all at risk family members and to assess patients' eligibility for emerging therapeutic options.
胰腺癌（PC）是癌症死亡的主要原因。为了改善治疗策略和结果，通过利用合成致死性，已经将 DNA 损伤修复（DDR）途径作为 PC 和其他癌症的新靶点引入。此外，参与 DDR 的基因是癌症易感性的主要决定因素之一。除了众所周知的 BRCA1 和 BRCA2 基因外，同一途径中的许多其他靶标现在也正在出现。
我们使用包含 24 个其他癌症易感性基因的panel 分析了 60 名已接受 BRCA 检测的 PC 患者的样本。
我们检测到 8 个致病性或可能致病性突变（分析样本的 13.3%），其中 4 个位于非 BRCA 基因中（2 个在 ATM 中，1 个在 PALB2 中，1 个在 RAD50 中）。此外，在没有癌症个人或家族史的患者中发现了 4 个致病性或可能致病性突变。
我们的研究结果表明，应在所有 PC 患者中进行全面基因panel 的基因检测，以便对所有高危家族成员进行 PC 和其他基因相关癌症的筛查，并评估患者对新兴治疗选择的资格。
