Malats Núria, Molina-Montes Esther, La Vecchia Carlo
Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Center (CNIO), and CIBERONC, Madrid, Spain.
Public Health Genomics. 2017;20(2):92-99. doi: 10.1159/000477234. Epub 2017 Jul 8.
Pancreatic cancer (PC) is one of the deadliest cancers worldwide for which little clinical progress has been made in the last decades. Furthermore, increased trends of PC mortality rates have been reported in Westernised countries. PC is usually diagnosed in advanced stages, precluding patients of an effective treatment. Identifying high-risk populations and early detection markers is the first and crucial step to impact on these figures and change the PC horizon.
AIMS/OBJECTIVES: To discuss the published body of evidence on host and tumor genomics promising markers for primary and/or secondary personalised PC prevention, as well as the future perspectives in the field.
A review of the literature was performed to identify germline and tumor DNA and RNA markers that showed potential usefulness in defining the high-risk population, diagnosing the disease early, and identifying new carcinogens associated with PC.
Only high-penetrance inherited mutations are used, at present, to define the high-risk PC population. Although there are some promising genomics markers to be used as early detection tests, none has been validated adequately to be integrated into the clinics routine.
Despite of important efforts made in the recent time, little progress has been made to better characterise high-risk PC populations and to identify genomics-based markers for its early diagnosis. PC rates continue to rise, and this disease is becoming a real public health problem in the Westernised world. International and multidisciplinary strategies to identify new markers and properly validate the promising ones are urgently needed to implement cost-efficient primary and secondary prevention interventions in PC.
胰腺癌（PC）是全球致死率最高的癌症之一，在过去几十年里临床进展甚微。此外，西方国家报告了胰腺癌死亡率上升的趋势。胰腺癌通常在晚期才被诊断出来，患者无法接受有效治疗。识别高危人群和早期检测标志物是影响这些数据并改变胰腺癌现状的首要关键步骤。
讨论已发表的关于宿主和肿瘤基因组学的证据，这些证据有望为原发性和/或继发性个性化胰腺癌预防提供标志物，以及该领域的未来前景。
对文献进行综述，以识别在定义高危人群、早期诊断疾病以及识别与胰腺癌相关的新致癌物方面显示出潜在用途的种系和肿瘤DNA及RNA标志物。
目前仅使用高外显率的遗传性突变来定义高危胰腺癌人群。尽管有一些有前景的基因组学标志物可用于早期检测试验，但尚无一个经过充分验证可纳入临床常规。
尽管最近做出了重要努力，但在更好地表征高危胰腺癌人群以及识别基于基因组学的早期诊断标志物方面进展甚微。胰腺癌发病率持续上升，在西方世界，这种疾病正成为一个真正的公共卫生问题。迫切需要国际和多学科战略来识别新的标志物并对有前景的标志物进行适当验证，以实施具有成本效益的胰腺癌一级和二级预防干预措施。
