Pancreatic ductal adenocarcinoma (PDAC) is the most common type of pancreatic cancer,
characterized by high tumor heterogeneity and a poor prognosis. Inter-and intra-tumoral …

We report that~ 1.8% of all mesothelioma patients and 4.9% of those younger than 55, carry
rare germline variants of the BRCA1 associated RING domain 1 (BARD1) gene that were …

Simple Summary The aim of this study was to explore the utility of cascade family testing
(CFT) in families of breast cancer patients who carry specific genetic variations. We …

Background/Aim: The application of next-generation sequencing (NGS) technology in the
genetic investigation of hereditary cancer is important for clinical surveillance, therapeutic …

Simple Summary In patients with epithelial ovarian cancer, the gold standard Myriad
MyChoice® CDx assay is used to assess homologous recombination deficiency (HRD), as a …

Breast cancer (BC) is the most prominent tumor type among women, accounting for 32% of
newly diagnosed cancer cases. BC risk factors include inherited germline pathogenic gene …

遗传变异是导致癌症发生和发展的重要因素之一. 拷贝数变异是遗传多样性的重要来源,
在结构上表现为基因的扩增或缺失, 与肿瘤的发生和发展有关. 采用高通量测序和基因芯片技术 …

Background: Hereditary cancer predisposition syndromes are responsible for approximately
5–10% of all diagnosed cancer cases. In order to identify individuals at risk in a costefficient …

Pancreatic cancer stands out as one of the most lethal forms of malignancies, representing
2% of all cancer cases and contributing to 5% of cancer-related fatalities. Therefore, early …

Methods In total, 7,787 individuals were referred for multi gene genetic testing, in the period
2020-2023, to the Genekor laboratory and genetic testing using NGS was performed (Figure …