Related Experiment Video
Updated: Feb 22, 2026
Integration of Bioinformatics Approaches and Experimental Validations to Understand the Role of Notch Signaling in Ovarian Cancer
Published on: January 12, 2020
Interaction Between Rare Variants in NOTCH1 and Betel Quid Chewing in Oral Squamous Cell Carcinoma
Chia-Min Chung1,2, Chien-Hung Lee3, Mu-Kuan Chen4
11 Graduate Institute of Clinical Medical Science, China Medical University , Taichung, Taiwan .
Background:
In this study, we investigated rare variants of the NOTCH1 gene located near somatic mutations as surrogate markers, as well as the relationship of these rare variants with betel quid (BQ) chewing and the occurrence of oral squamous cell carcinoma (OSCC).
Materials And Methods:
A total of 410 patients diagnosed with OSCC and 282 unrelated, healthy subjects without cancer were recruited from two medical centers in Taiwan. Odds ratios (OR) and 95% confidence intervals (CI) were assessed by logistic regression. The Cox proportional hazard model was used to assess the interaction between rare NOTCH1 variants and BQ chewing in OSCC.
Results:
The genetic variant rs139994842 in exon15 of NOTCH1 was significantly associated with an increased risk of OSCC (OR = 2.88 95% CI: 1.07-7.79), and the association between rs202133782 in exon13 of NOTCH1 with OSCC was borderline significant (p = 0.0627). Moreover, a combination of four rare variants was significantly associated with OSCC (p = 0.012). Patients who carried these NOTCH1 variants were at a higher risk of recurrence (OR = 18.95; 95% CI, 1.01-326.74; p = 0.0428). Furthermore, of the mean 24-year BQ exposure period, the OSCC incidence rate was significantly higher in OSCC patients who chewed BQ and had a NOTCH1 variant (p < 0.0001).
Conclusion:
This information is applicable to prevention; the surveillance of patients at risk; and for early detection to reduce morbidity and mortality from OSCC.
Related Concept Videos
03:14Notch Signaling Pathway
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
01:12Role Of Notch Signalling In Intestinal Stem Cell Renewal
Direct cell-to-cell contact is needed for the activation of Notch signaling. The signal is initiated when a notch ligand binds to a receptor on an adjacent cell, also...
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:12Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
01:05Single Nucleotide Polymorphisms-SNPs
01:20Mismatch Repair
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...