Background: Mucins are the major components of mucus and their genes share a common, centrally-located region of sequence that encodes tandem repeats. Mucins are well known genes with respect to their specific expression levels; however, their genomic levels are unclear because of complex genomic properties. In this study, we identified eight novel minisatellites from the entire MUC2 region and investigated how allelic variation in these minisatellites may affect susceptibility to gastrointestinal cancer.
Methodology/principle Findings: We analyzed genomic DNA from the blood of normal healthy individuals and multi-generational family groups. Six of the eight minisatellites exhibited polymorphism and were transmitted meiotically in seven families, following Mendelian inheritance. Furthermore, a case-control study was performed that compared genomic DNA from 457 cancer-free controls with DNA from individuals with gastric (455), colon (192) and rectal (271) cancers. A statistically significant association was identified between rare exonic MUC2-MS6 alleles and the occurrence of gastric cancer: odds ratio (OR), 2.56; 95% confidence interval (CI), 1.31-5.04; and p = 0.0047. We focused on an association between rare alleles and gastric cancer. Rare alleles were divided into short (40, 43 and 44) and long (47, 50 and 54), according to their TR (tandem repeats) lengths. Interestingly, short rare alleles were associated with gastric cancer (OR = 5.6, 95% CI: 1.93-16.42; p = 0.00036). Moreover, hypervariable MUC2 minisatellites were analyzed in matched blood and cancer tissue from 28 patients with gastric cancer and in 4 cases of MUC2-MS2, minisatellites were found to have undergone rearrangement.
Conclusions/significance: Our observations suggest that the short rare MUC2-MS6 alleles could function as identifiers for risk of gastric cancer. Additionally, we suggest that minisatellite instability might be associated with MUC2 function in cancer cells.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2065792 | PMC |
| http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0001163 | PLOS |
Publication Analysis
Top Keywords
Similar Publications
Comparative genomic analysis unveiling the mutational landscape associated with premalignant lesions and early-stage gastric cardia cancer.
Medicine (Baltimore)
January 2025
Department of Endoscopy, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
This study enrolled 10 patients diagnosed with premalignant lesions and early-stage gastric cardia adenocarcinoma (GCA), confirmed through endoscopic examination. These patients were subjected to next-generation sequencing (NGS) using a customized 1123-gene panel to identify genetic alterations and signaling pathways. The results were compared to stage IIB to IV GCA samples from the cancer genome atlas (TCGA) and a cohort of Hong Kong patients.
View Article and Find Full Text PDFPrimary solitary fibrous tumor of the stomach: A case report and a review of literature.
Medicine (Baltimore)
January 2025
Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA.
Rationale: Solitary fibrous tumors (SFTs) are spindle cell tumors that typically occur in the pleura and peritoneum, but very rarely in the stomach. To our best knowledge, there are only 10 cases reported in English literature. We reported a case of primary stomach SFT and summarized the characteristics of all previous cases, suggesting that pathologists and surgeons should include this disease in the differential diagnosis list of primary mesenchymal tumor of the stomach.
View Article and Find Full Text PDFArtificial Intelligence for Predicting HER2 Status of Gastric Cancer Based on Whole-Slide Histopathology Images: A Retrospective Multicenter Study.
Adv Sci (Weinh)
January 2025
Department of Pathology, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
Human epidermal growth factor receptor 2 (HER2) positive gastric cancer (GC) shows a robust response to the combined therapy based HER2-targeted therapy. The application of these therapies is highly dependent on the evaluation of tumor HER2 status. However, there are many risks and challenges in HER2 assessment in GC.
View Article and Find Full Text PDFA comparison of the clinicopathological features and genetic alterations in stage II/III gastric cancer with no recurrence, early recurrence and late recurrence after curative surgery.
J Chin Med Assoc
November 2024
School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan, ROC.
Background: Few studies have explored the genetic changes and clinicopathological features of stage II/III gastric cancer (GC) patients with no tumor recurrence, early recurrence, or late recurrence after curative surgery.
Methods: In this study, 376 patients who underwent curative surgery for stage II/III GC were analyzed. The clinical and genetic features of patients with no recurrence, early recurrence (<2 years), and late recurrence (≥2 years) were compared.
Gastric and Esophageal Cancer in Pregnancy: A Review.
Obstet Gynecol Surv
December 2024
Professor, Obstetrics and Gynecology, University of Arkansas for the Medical Sciences, Little Rock, AR; Professor, Obstetrics and Gynecology, Virginia Tech Carilion School of Medicine, Roanoke, VA.
Importance: Upper gastrointestinal cancers such as gastric and esophageal cancers are rare malignancies with poor prognosis because it is usually diagnosed in latter stages. Presenting symptoms are frequently presumed pregnancy related rather than malignancy related. This review will raise awareness to consider these aggressive cancers in evaluating gastrointestinal complaints during pregnancy.
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!