意大利胰腺癌高危家庭登记处(IRFARPC):高危人群胰腺癌监测国家计划的实施与发展。

IF 1.8 4区 医学 Q3 GENETICS & HEREDITY Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-03-16 DOI:10.1007/s10689-024-00366-3
Livia Archibugi, Fabio Casciani, Silvia Carrara, Erica Secchettin, Massimo Falconi, Gabriele Capurso, Salvatore Paiella
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引用次数: 0

摘要

为了降低疾病的致死率,全世界越来越多地实施了胰腺癌(PC)及其前驱病变的早期检测和治疗筛查计划。鉴于胰腺癌的发病率相对较低,此类筛查方法的理想目标是筛选出终生罹患胰腺癌的风险明显高于普通人群的人群,这些人群要么是家族中有大量胰腺癌病例(即家族性胰腺癌),要么是基因组中富含与胰腺癌发生相关的致病变异(即突变携带者)。意大利于 2015 年启动了一项国家登记计划,对胰腺癌高危人群进行普查和监测,截至目前共登记了约 1200 名受试者。从这个角度概述了 IRFARPC 的科学背景、多层次结构和演变,以及其长期成果、未来发展和有待改进的领域。
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The Italian registry of families at risk for pancreatic cancer (IRFARPC): implementation and evolution of a national program for pancreatic cancer surveillance in high-risk individuals.

Screening programs for early detection and treatment of pancreatic cancer (PC) and its precursor lesions are increasingly implemented worldwide to reduce disease-specific lethality. Given the relatively low prevalence of the disease, the ideal target of such approaches is an enriched cohort of individuals harboring a lifetime risk of developing PC significantly higher compared to the general population, given either a substantial aggregation of PC cases in their family (i.e. familial pancreatic cancer) or a genomic landscape enriched with pathogenic variants associated with pancreatic carcinogenesis (i.e. mutation carriers). In Italy, a national registry for the census and surveillance of high-risk individuals for PC was launched in 2015, enrolling some 1200 subjects as of today. In this perspective, the scientific background, multi-level structure, and evolution of IRFARPC are outlined, as well as its long-term results, future developments, and areas for improvement.

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来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
期刊最新文献
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