Olakowski Marek, Bułdak Łukasz
Department of Gastrointestinal Surgery, Medical University of Silesia, Medyków 14, 40-752, Katowice, Poland.
Department of Internal Medicine and Clinical Pharmacology, Medical University of Silesia, Medyków 18, 40-752, Katowice, Poland.
Hered Cancer Clin Pract. 2022 Jun 27;20(1):26. doi: 10.1186/s13053-022-00224-2.
It is estimated that about 10% of pancreatic cancer cases have a genetic background. People with a familial predisposition to pancreatic cancer can be divided into 2 groups. The first is termed hereditary pancreatic cancer, which occurs in individuals with a known hereditary cancer syndrome caused by germline single gene mutations (e.g., BRCA1/2, CDKN2A). The second is considered as familial pancreatic cancer, which is associated with several genetic factors responsible for the more common development of pancreatic cancer in certain families, but the precise single gene mutation has not been found.
This review summarizes the current state of knowledge regarding the risk of pancreatic cancer development in hereditary pancreatic cancer and familial pancreatic cancer patients. Furthermore, it gathers the latest recommendations from the three major organizations dealing with the prevention of pancreatic cancer in high-risk groups and explores recent guidelines of scientific societies on screening for pancreatic cancers in individuals at risk for hereditary or familial pancreatic cancer.
In order to improve patients' outcomes, authors of current guidelines recommend early and intensive screening in patients with pancreatic cancer resulting from genetic background. The screening should be performed in excellence centers. The scope, extent and cost-effectiveness of such interventions requires further studies.
据估计，约10%的胰腺癌病例具有遗传背景。有胰腺癌家族易感性的人可分为两组。第一组称为遗传性胰腺癌，发生在具有由种系单基因突变引起的已知遗传性癌症综合征的个体中（例如，BRCA1/2、CDKN2A）。第二组被认为是家族性胰腺癌，它与某些家族中胰腺癌更常见发生相关的几种遗传因素有关，但尚未发现确切的单基因突变。
本综述总结了遗传性胰腺癌和家族性胰腺癌患者发生胰腺癌风险的当前知识状态。此外，它收集了处理高危人群胰腺癌预防的三大组织的最新建议，并探讨了科学协会关于对遗传性或家族性胰腺癌风险个体进行胰腺癌筛查的最新指南。
为了改善患者的预后，当前指南的作者建议对具有遗传背景的胰腺癌患者进行早期和强化筛查。筛查应在优秀中心进行。此类干预措施的范围、程度和成本效益需要进一步研究。
