Liu Jakub, Mroczek Magdalena, Mach Anna, Stępień Maria, Aplas Angelika, Pronobis-Szczylik Bartosz, Bukowski Szymon, Mielczarek Magda, Gajewska Ewelina, Topolski Piotr, Król Zbigniew J, Szyda Joanna, Dobosz Paula
Biostatistics Group, Wroclaw University of Environmental and Life Sciences, 51-631 Wroclaw, Poland.
Centre for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Wagistrasse 25, 8952 Schlieren, Switzerland.
Cancers (Basel). 2023 Jan 27;15(3):779. doi: 10.3390/cancers15030779.
The number of cases of pancreatic cancers in 2019 in Poland was 3852 (approx. 2% of all cancers). The course of the disease is very fast, and the average survival time from the diagnosis is 6 months. Only <2% of patients live for 5 years from the diagnosis, 8% live for 2 years, and almost half live for only about 3 months. A family predisposition to pancreatic cancer occurs in about 10% of cases. Several oncogenes in which somatic changes lead to the development of tumours, including genes BRCA1/2 and PALB2, TP53, CDKN2A, SMAD4, MLL3, TGFBR2, ARID1A and SF3B1, are involved in pancreatic cancer. Between 4% and 10% of individuals with pancreatic cancer will have a mutation in one of these genes. Six percent of patients with pancreatic cancer have NTRK pathogenic fusion. The pathogenesis of pancreatic cancer can in many cases be characterised by homologous recombination deficiency (HRD)-cell inability to effectively repair DNA. It is estimated that from 24% to as many as 44% of pancreatic cancers show HRD. The most common cause of HRD are inactivating mutations in the genes regulating this DNA repair system, mainly BRCA1 and BRCA2, but also PALB2, RAD51C and several dozen others.
2019年波兰胰腺癌病例数为3852例（约占所有癌症病例的2%）。该疾病发展迅速，确诊后的平均存活时间为6个月。只有不到2%的患者从确诊起能存活5年，8%能存活2年，近一半患者仅存活约3个月。约10%的胰腺癌病例存在家族易感性。一些原癌基因的体细胞变化会导致肿瘤发生，包括BRCA1/2和PALB2、TP53、CDKN2A、SMAD4、MLL3、TGFBR2、ARID1A和SF3B1基因，这些基因都与胰腺癌有关。4%至10%的胰腺癌患者会在这些基因中的某一个发生突变。6%的胰腺癌患者存在NTRK致病性融合。在许多情况下，胰腺癌的发病机制可表现为同源重组缺陷（HRD）——细胞无法有效修复DNA。据估计，24%至多达44%的胰腺癌存在HRD。HRD最常见的原因是调节该DNA修复系统的基因发生失活突变，主要是BRCA1和BRCA2，还有PALB2、RAD51C以及其他几十种基因。
