Abstract：
The Spanish Familial Pancreatic Cancer Registry (PANGENFAM) was established in 2009 and aims to characterize the genotype and phenotype of familial pancreatic cancer (FPC). Furthermore, an early detection screening program for pancreatic ductal adenocarcinoma (PDAC) is provided to healthy high-risk individuals from FPC and hereditary pancreatic cancer families (first-degree relatives). This article describes our experience over the last 10 years in high-risk screening. Hereditary and familial pancreatic cancer families were identified through the oncology and gastroenterology units. High-risk individuals underwent annual screening with endoscopic ultrasound (EUS) and magnetic resonance (MRI) from age 40 or 10 years younger than the youngest affected family member. Results: PANGENFAM has enrolled 290 individuals from 143 families, including 52 PDAC cases and 238 high-risk individuals. All high-risk individuals eligible for screening were offered to enter the surveillance program, with 143 currently participating. Pancreatic abnormalities were detected in 94 individuals (median age 53 years (29-83), with common findings including cystic lesions and inhomogeneous parenchyma. Imaging test concordance was 66%. Surgical intervention was performed in 4 high-risk individuals following highly suspicious lesions detected by imaging. PANGENFAM is a valuable resource for science innovation, such as biobanking, with clinical and imaging data available for analysis. For high-risk families, it may offer a potential for early diagnosis. Collaboration with other national and international registries is needed to increase our understanding of the disease biology and to standardize criteria for inclusion and follow-up, optimizing cost-effectiveness and efficacy.
摘要：
西班牙家族性胰腺癌注册中心（PANGENFAM）成立于2009年，旨在表征家族性胰腺癌（FPC）的基因型和表型。此外，我们为来自FPC和遗传性胰腺癌家族(一级亲属)的健康高危人群提供了胰腺导管腺癌(PDAC)的早期检测筛查计划.本文介绍了我们过去10年在高风险筛查方面的经验。通过肿瘤学和胃肠病学部门确定了遗传性和家族性胰腺癌家族。高危人群每年接受内窥镜超声（EUS）和磁共振（MRI）筛查，年龄比最年轻的患病家庭成员小40岁或10岁。结果：PANGENFAM招募了来自143个家庭的290人，包括52例PDAC病例和238例高危人群。所有符合筛查条件的高危人群都可以进入监测项目，目前有143人参加。在94名个体中检测到胰腺异常(中位年龄53岁(29-83)，常见发现包括囊性病变和薄壁组织不均匀。影像学检查符合率为66%。在影像学检测到高度可疑的病变后，对4名高风险个体进行了手术干预。PANGENFAM是科学创新的宝贵资源，比如生物缓冲，临床和影像学数据可供分析。对于高危家庭，它可能提供早期诊断的潜力。需要与其他国家和国际注册管理机构合作，以增加我们对疾病生物学的了解，并标准化纳入和后续行动的标准，优化成本效益和功效。
