Hereditary Cancer Program, BC Cancer, part of Provincial Health Services Authority, Vancouver, BC, Canada.
Pancreas Centre BC, Vancouver, BC, Canada.
Cancer Med. 2020 Jun;9(11):4004-4013. doi: 10.1002/cam4.2973. Epub 2020 Apr 7.
Recent guidelines recommend consideration of germline testing for all newly diagnosed pancreatic ductal adenocarcinoma (PDAC). The primary aim of this study was to determine the burden of hereditary cancer susceptibility in PDAC. A secondary aim was to compare genetic testing uptake rates across different modes of genetic counselling.
All patients diagnosed with PDAC in the province of British Columbia, Canada referred to a population-based hereditary cancer program were eligible for multi-gene panel testing, irrespective of cancer family history. Any healthcare provider or patients themselves could refer.
A total of 305 patients with PDAC were referred between July 2016 and January 2019. Two hundred thirty-five patients attended a consultation and 177 completed index germline genetic testing. 25/177 (14.1%) of unrelated patients had a pathogenic variant (PV); 19/25 PV were in known PDAC susceptibility genes with cancer screening or risk-reduction implications. PDAC was significantly associated with PV in ATM (OR, 7.73; 95% CI, 3.10 to 19.33, P = 6.14E-05) when comparing age and gender and ethnicity-matched controls tested on the same platform. The overall uptake rate for index testing was 59.2% and was significantly higher with 1-on-1 consultations and group consultations compared to telehealth consultations (88.9% vs 82.9% vs 61.8%, P < .001).
In a prospective clinic-based cohort of patients with PDAC referred for testing irrespective of family history, germline PV were detected in 14.1%. PV in ATM accounted for half of all PVs and were significantly associated with PDAC. These findings support recent guidelines and will guide future service planning in this population.
最近的指南建议对所有新诊断的胰腺导管腺癌（PDAC）患者考虑进行种系检测。本研究的主要目的是确定 PDAC 中遗传性癌症易感性的负担。次要目的是比较不同遗传咨询模式下基因检测的采用率。
在加拿大不列颠哥伦比亚省，所有被诊断为 PDAC 并被转介到一个基于人群的遗传性癌症计划的患者都有资格进行多基因面板检测，无论其癌症家族史如何。任何医疗保健提供者或患者本人都可以转介。
2016 年 7 月至 2019 年 1 月期间，共有 305 名 PDAC 患者被转介。235 名患者参加了咨询，177 名患者完成了指数种系基因检测。177 名无关患者中有 25 名（14.1%）携带致病性变异（PV）；25 名 PV 中有 19 名位于已知的 PDAC 易感性基因中，具有癌症筛查或降低风险的意义。在比较基于同一平台测试的年龄、性别和种族匹配的对照时，ATM 中的 PDAC 与 PV 显著相关（OR，7.73；95%CI，3.10 至 19.33，P=6.14E-05）。指数检测的总体采用率为 59.2%，1 对 1 咨询和小组咨询的采用率明显高于远程医疗咨询（88.9%比 82.9%比 61.8%，P<.001）。
在一个基于前瞻性诊所的 PDAC 患者队列中，无论家族史如何，都检测到 14.1%的种系 PV。ATM 中的 PV 占所有 PV 的一半，与 PDAC 显著相关。这些发现支持最近的指南，并将指导该人群的未来服务规划。
