文章：

确定患胰腺癌的高风险人群

Identifying people at a high risk of developing pancreatic cancer

原文发布日期：2012-12-06

DOI: 10.1038/nrc3420

类型: Review Article

开放获取: 否

要点：

1. Familial cancer registries have had a key role in our understanding of the aetiology of many cancer types, such as breast and colon cancer.
2. As pancreatic cancer is a leading cause of cancer death and because it has the poorest prognosis of any major tumour type, familial pancreatic cancer registries are an important tool for investigating the genetic aetiology of this devastating disease.
3. By studying the families that are enrolled in our familial pancreatic cancer registry we have been able to identify several familial pancreatic cancer susceptibility genes, conduct some of the first early detection screening trials for pancreatic cancer and have begun to understand the potential of personalized treatment for this disease.
4. Registries also allow for the prospective follow-up of a population at a high risk of pancreatic cancer, a disease that is traditionally difficult to study owing to its rarity.
5. The adaptive nature of family registries has allowed for the rapid adoption of new technologies, such as genome sequencing for gene discovery.

要点翻译：

1. 家族性癌症登记对我们理解多种癌症类型的病因学起到了关键作用，例如乳腺癌和结肠癌。
2. 由于胰腺癌是癌症死亡的主要原因，并且其预后在所有主要肿瘤类型中最差，家族性胰腺癌登记便成为研究这种破坏性疾病遗传病因学的重要工具。
3. 通过研究我们家族性胰腺癌登记中注册的家庭，我们已经能够识别出几个家族性胰腺癌易感基因，开展了首批胰腺癌早期检测筛查试验，并开始了解这种疾病个性化治疗的潜力。
4. 登记还使得对胰腺癌高风险人群进行前瞻性随访成为可能，而胰腺癌由于罕见性，传统上一直难以研究。
5. 家族性登记的适应性使得快速采用新技术成为可能，例如用于基因发现的全基因组测序。

英文摘要：

Pancreatic cancer is a leading cause of cancer death, and it has the poorest prognosis of any major tumour type. Familial pancreatic cancer registries are important for investigating the genetic aetiology of this devastating disease. Using data from our familial pancreatic cancer registry and other registries, this Review discusses the usefulness of family registries in the study of pancreatic and other cancers, and also how such registries provide a unique opportunity for laboratory, population and clinical research.

摘要翻译： 

胰腺癌是癌症死亡的主要原因，在所有主要肿瘤类型中预后最差。家族性胰腺癌登记对于研究这种毁灭性疾病的遗传病因具有重要意义。本文通过结合我们的家族性胰腺癌登记数据及其他登记信息，探讨了家族登记在胰腺癌及其他癌症研究中的价值，并阐述了此类登记为实验室、人群和临床研究提供的独特机遇。

原文链接：

Identifying people at a high risk of developing pancreatic cancer