The spindle assembly checkpoint controls proper chromosome segregation during mitosis and prevents aneuploidy-an important feature of cancer cells. We performed genome-wide and targeted copy number and mutation analyses of germline DNA from 208 patients with familial or early-onset (40 years of age or younger) colorectal cancer; we identified haploinsufficiency or heterozygous mutations in the spindle assembly checkpoint genes BUB1 and BUB3 in 2.9% of them. Besides colorectal cancer, these patients had variegated aneuploidies in multiple tissues and variable dysmorphic features. These results indicate that mutations in BUB1 and BUB3 cause mosaic variegated aneuploidy and increase the risk of colorectal cancer at a young age.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1053/j.gastro.2013.06.001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Predictive value of preoperative circulating tumor cells combined with hematological indexes for liver metastasis after radical resection of colorectal cancer.
Medicine (Baltimore)
January 2025
Department of General Surgery, The Second Hospital of Hebei Medical University, Shijiazhuang City, Hebei Province, China.
Colorectal cancer is one of the most common malignant tumors in the world, and about 50% of its advanced patients will have liver metastasis. Preoperative assessment of the risk of liver metastasis in patients with colorectal cancer is of great significance for making individualized treatment plans. Traditional imaging examinations and tumor markers have some limitations in predicting the risk of liver metastasis.
View Article and Find Full Text PDFHepatocellular Carcinoma Cells in Humans Exhibit Resistance to Suberoylanilide Hydroxamic Acid (SAHA) Owing to the Diminished Level of Hsa-miR-125a-5p.
Chem Biol Drug Des
January 2025
Cardiovascular and Mitochondrial Related Disease Research Center, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.
Hepatocellular carcinoma (HCC) presents an escalating public health challenge globally. However, drug resistance has emerged as a major impediment to successful HCC treatment, limiting the efficacy of curative interventions. Despite numerous investigations into the diverse impacts of hsa-miR-125a-5p on tumor growth across different cancer types, its specific involvement in chemotherapy resistance in HCC remains elusive.
View Article and Find Full Text PDFProtocol for applying Tumor Treating Fields in mouse models of cancer using the inovivo system.
STAR Protoc
January 2025
Department of Medicine, Division of Hematology, Oncology, and Transplantation, University of Minnesota Medical School, Minneapolis, MN, USA; Masonic Cancer Center, University of Minnesota Medical School, Minneapolis, MN, USA. Electronic address:
Tumor Treating Fields (TTFields) are electric fields clinically approved for cancer treatment, delivered via arrays attached to the patient's skin. Here, we present a protocol for applying TTFields to torso orthotopic and subcutaneous mouse tumor models using the inovivo system. We guide users on proper system component connections, study protocol design, mouse fur depilation, array application, and treatment condition adjustment and monitoring.
View Article and Find Full Text PDFIntegrin α6 and integrin β4 in exosomes promote lung metastasis of colorectal cancer.
J Cancer Res Ther
December 2024
Department of Gastrointestinal Surgery, Guangxi Medical University Cancer Hospital, Nanning, China.
Background: Colorectal cancer (CRC) is one of the most common cancers worldwide. The mechanisms underlying metastasis, which contributes to poor outcomes, remain elusive.
Methods: We used the Cancer Genome Atlas dataset to compare mRNA expression patterns of integrin α6 (ITGA6) and integrin β4 (ITGB4) in patients with CRC.
Long-term outcomes of endoscopic submucosal dissection for T1b colorectal cancer.
J Cancer Res Ther
December 2024
Department of Gastroenterology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, P. R. China.
Background: Endoscopic submucosal dissection (ESD) is a standardized procedure for intramucosal and slightly invasive submucosal colorectal cancers (CRC). However, the role of ESD for T1b (depth of submucosal invasion: ≥1,000 μm) CRC remains unclear. This study aimed to investigate the long-term efficacy and safety of ESD for T1b CRC.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!